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
SDK2	54549	broad.mit.edu	37	17	71354323	71354323	+	Missense_Mutation	SNP	C	T	T	rs146597384		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:71354323C>T	uc010dfm.3	-	39	5488	c.5488G>A	c.(5488-5490)Gtg>Atg	p.V1830M	SDK2_uc002jjt.4_Missense_Mutation_p.V970M|SDK2_uc010dfn.2_Missense_Mutation_p.V1509M	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1830	Fibronectin type-III 13.				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						ATGATGGGCACGCCAGGCGGT	0.652000														778			81		0	0	0.003610	0	0
FLT1	2321	broad.mit.edu	37	13	28908198	28908198	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr13:28908198G>T	uc001usb.3	-	17	2842	c.2557C>A	c.(2557-2559)Cct>Act	p.P853T	FLT1_uc001usa.3_Missense_Mutation_p.P71T	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.	853	Protein kinase.				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)	CGGCACGTAGGTGATTTCTTA	0.428000														700			96		1.90545e-35	2.09826e-35	0.003610	1	0
SEPT6	23157	broad.mit.edu	37	X	118763358	118763358	+	Silent	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:118763358C>T	uc004erv.3	-	8	1468	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Silent_p.T401T|SEPT6_uc004ert.3_Silent_p.T401T|SEPT6_uc004eru.3_Silent_p.T401T|SEPT6_uc004erw.3_Silent_p.T343T|SEPT6_uc011mtv.1_Silent_p.T343T|SEPT6_uc011mtw.1_Silent_p.T431T	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	401					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						GCTCAGCCGCCGTCTTTCTTT	0.507000			T	MLL	AML									551			8		0	0	0.003080	0	0
CCT8	10694	broad.mit.edu	37	21	30435800	30435800	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:30435800C>T	uc002ynb.3	-	7	913	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	CCT8_uc011acp.2_Missense_Mutation_p.E253K|CCT8_uc002yna.3_Missense_Mutation_p.E221K|CCT8_uc011acq.2_Missense_Mutation_p.E199K	NM_006585	NP_006576	P50990	TCPQ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta) (CCT8), mRNA.	272					'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						AGGTTTTCTTCTCCCTTACTA	0.398000														428			6		0	0	0.001168	0	0
SPZ1	84654	broad.mit.edu	37	5	79617205	79617205	+	RNA	SNP	G	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:79617205G>T	uc011ctk.1	-	0		c.454C>A			SPZ1_uc003kgn.3_Missense_Mutation_p.D391Y			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTGGAAAAAAGACAGATCCTG	0.363000														333			30		4.74835e-14	5.13711e-14	0.010818	1	0
DLGAP4	22839	broad.mit.edu	37	20	35060245	35060245	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:35060245G>A	uc002xff.3	+	2	560	c.125G>A	c.(124-126)cGc>cAc	p.R42H	DLGAP4_uc010zvp.2_Missense_Mutation_p.R42H	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	42					cell-cell signaling	membrane	protein binding	p.R42C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCCTTCGCCCGCGAGGCCCGC	0.697000														330			52		0	0	0.003610	0	0
PRDM15	63977	broad.mit.edu	37	21	43256271	43256271	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:43256271C>T	uc002yzq.1	-	16	2438	c.2327G>A	c.(2326-2328)cGc>cAc	p.R776H	PRDM15_uc002yzo.3_Missense_Mutation_p.R447H|PRDM15_uc002yzp.3_Missense_Mutation_p.R447H|PRDM15_uc002yzr.1_Missense_Mutation_p.R447H	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	776					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						GCTCTCTTTGCGGCTGAACAA	0.493000														222			5		0	0	0.000602	0	0
PI4KAP2	375133	broad.mit.edu	37	22	21829555	21829555	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:21829555T>G	uc002zuv.4	-	13	3847	c.1588A>C	c.(1588-1590)Atc>Ctc	p.I530L	PI4KAP2_uc002zuw.3_Intron|PI4KAP2_uc011aid.2_Intron					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 (PI4KAP2), non-coding RNA.									p.I530L(8)		endometrium(3)|urinary_tract(1)	4						TCCAACATGATAGTGACCAGG	0.607000														109			5		0	0	0.010729	0	0
SARDH	1757	broad.mit.edu	37	9	136529088	136529088	+	Missense_Mutation	SNP	C	G	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:136529088C>G	uc004cep.4	-	20	2814	c.2680G>C	c.(2680-2682)Ggg>Cgg	p.G894R	SARDH_uc004ceo.3_Missense_Mutation_p.G894R|SARDH_uc011mdo.2_Missense_Mutation_p.G726R|SARDH_uc011mdn.2_Missense_Mutation_p.G894R|SARDH_uc004cen.3_Missense_Mutation_p.G344R	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	894					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TAGGTCACCCCCATTCTCTCC	0.577000														411			19		0	0	0.006122	0	0
SMAD4	4089	broad.mit.edu	37	18	48591918	48591918	+	Missense_Mutation	SNP	C	T	T	rs80338963		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:48591918C>T	uc010xdp.2	+	8	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_uc002lfb.4_Missense_Mutation_p.R206C	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	361	MH2.		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361H(12)|p.R361C(10)|p.R361S(4)|p.?(2)|p.D360fs*24(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413000														333			35		0	0	0.002836	0	0
MYH4	4622	broad.mit.edu	37	17	10360755	10360755	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:10360755C>T	uc002gmn.3	-	15	1990	c.1879G>A	c.(1879-1881)Gca>Aca	p.A627T	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	627	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						GCAGTTTGTGCCCCAGAGAAG	0.458000														304			5		0	0	0.000602	0	0
ASB16	92591	broad.mit.edu	37	17	42255678	42255678	+	Missense_Mutation	SNP	C	T	T	rs75035743	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:42255678C>T	uc002ifl.1	+	4	1366	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	ASB16_uc002ifm.1_Non-coding_Transcript|C17orf65_uc002ifn.3_Intron|C17orf65_uc021tyb.1_5'Flank	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 16 (ASB16), mRNA.	428	SOCS box.				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)		AAGCCGCTGCCGGCAGGGTGC	0.677000														131			7		0	0	0.003080	0	0
PDE1C	5137	broad.mit.edu	37	7	31890287	31890287	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:31890287G>A	uc003tcm.2	-	7	1280	c.819C>T	c.(817-819)acC>acT	p.T273T	PDE1C_uc003tcn.1_Silent_p.T273T|PDE1C_uc003tco.2_Silent_p.T333T|PDE1C_uc003tcr.3_Silent_p.T273T|PDE1C_uc003tcs.3_Silent_p.T273T	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	273	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	p.T273T(3)|p.T333T(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)			TGGTGGTTCCGGTATGCTCGT	0.448000														519			58		0	0	0.003610	0	0
AX747417	0	broad.mit.edu	37	3	95374591	95374591	+	RNA	SNP	G	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:95374591G>T	uc003dro.1	-	4		c.1271C>A								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		CCAAAATGCCGTGCTGTGGAA	0.488000														40			4		0.00909568	0.00929669	0.009096	1	0
SENP7	57337	broad.mit.edu	37	3	101177867	101177867	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:101177867G>A	uc003dut.3	-	3	327	c.216C>T	c.(214-216)atC>atT	p.I72I	SENP7_uc003duu.3_Silent_p.I72I|SENP7_uc003duv.3_Silent_p.I39I|SENP7_uc003duw.3_Silent_p.I72I|SENP7_uc003dux.3_Silent_p.I39I	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	72					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						GGTCTAGAGAGATGACTTTAT	0.333000														613			20		0	0	0.004656	0	0
FBN1	2200	broad.mit.edu	37	15	48780430	48780430	+	Missense_Mutation	SNP	C	T	T	rs137854478		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr15:48780430C>T	uc001zwx.2	-	26	3612	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1073	EGF-like 16; calcium-binding.		E -> K (in MFS; severe neonatal).		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			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)		ATGCGGCATTCGTCAATGTCT	0.453000														296			31		0	0	0.008361	0	0
KIF21B	23046	broad.mit.edu	37	1	200969692	200969692	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:200969692C>T	uc001gvs.2	-	10	1828	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	KIF21B_uc009wzl.2_Missense_Mutation_p.R504H|KIF21B_uc001gvr.2_Missense_Mutation_p.R504H|KIF21B_uc010ppn.2_Missense_Mutation_p.R504H	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	504					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						TGAGAGGCTGCGGCGCAGGGA	0.667000														392			5		0	0	0.000602	0	0
CPPED1	55313	broad.mit.edu	37	16	12875067	12875067	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:12875067G>A	uc002dca.4	-	1	375	c.264C>T	c.(262-264)tgC>tgT	p.C88C	CPPED1_uc002dcb.4_Silent_p.C88C	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	88							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGAGGTCGCCGCACAGAACGA	0.532000														127			4		0	0	0.000602	0	0
LILRB1	10859	broad.mit.edu	37	19	55147979	55147979	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:55147979C>T	uc002qgj.3	+	14	2022	c.1682C>T	c.(1681-1683)aCg>aTg	p.T561M	LILRB1_uc010erp.1_3'UTR|LILRB1_uc002qgl.3_Missense_Mutation_p.T562M|LILRB1_uc002qgk.3_Missense_Mutation_p.T562M|LILRB1_uc002qgm.3_Missense_Mutation_p.T563M|LILRB1_uc010erq.3_Missense_Mutation_p.T545M|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.	561					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)		CAGGCAGTGACGTATGCCGAG	0.567000										HNSCC(37;0.09)				319			7		0	0	0.001984	0	0
CXXC1	30827	broad.mit.edu	37	18	47809356	47809356	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:47809356G>A	uc002leq.4	-	13	2425	c.1692C>T	c.(1690-1692)tgC>tgT	p.C564C	MBD1_uc002leg.3_5'Flank|MBD1_uc010dow.2_5'Flank|MBD1_uc010xdi.2_5'Flank|MBD1_uc010xdj.2_5'Flank|MBD1_uc002lel.4_5'Flank|MBD1_uc002len.3_5'Flank|MBD1_uc002leh.4_5'Flank|MBD1_uc002lei.4_5'Flank|MBD1_uc002lej.4_5'Flank|MBD1_uc002lek.4_5'Flank|MBD1_uc002lem.4_5'Flank|MBD1_uc021ukd.1_5'Flank|MBD1_uc021uke.1_5'Flank|MBD1_uc010xdk.2_5'Flank|MBD1_uc010dox.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.4_Silent_p.C421C|CXXC1_uc002ler.4_Silent_p.C568C|CXXC1_uc010doy.3_Missense_Mutation_p.A552V	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	564					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GGGGGCACCCGCATACCTCGT	0.592000														227			5		0	0	0.001168	0	0
AMPD1	270	broad.mit.edu	37	1	115222920	115222920	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:115222920C>T	uc001efe.2	-	5	874	c.826G>A	c.(826-828)Gat>Aat	p.D276N	AMPD1_uc001eff.2_Missense_Mutation_p.D272N	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	243					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)	AAATTCATATCGTCTAAGAAG	0.393000														535			14		0	0	0.006122	0	0
LOC441666	441666	broad.mit.edu	37	10	42832015	42832015	+	RNA	SNP	A	C	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:42832015A>C	uc010qey.2	-	2		c.1960T>G								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		TATGTACATTAAGGTCTAAAG	0.343000														22			4		0	0	0.009096	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373804	373804	+	Silent	SNP	C	T	T	rs149327151	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:373804C>T	uc001lpb.3	+	7	768	c.759C>T	c.(757-759)cgC>cgT	p.R253R		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	253						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)		AGGACGACCGCGGCTCGGACC	0.642000														329			10		0	0	0.008291	0	0
CAPN12	147968	broad.mit.edu	37	19	39227921	39227921	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:39227921G>C	uc002ojd.1	-	9	1546	c.1237C>G	c.(1237-1239)Cgg>Ggg	p.R413G	CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	413	Domain III.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCTGGGCCCCGTGCCCCTGCA	0.682000														12			4		0	0	0.001984	0	0
RNF220	55182	broad.mit.edu	37	1	45111155	45111155	+	Silent	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:45111155C>T	uc001clv.1	+	11	1800	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	RNF220_uc001clw.1_Silent_p.I480I|RNF220_uc010oky.1_Silent_p.I267I|RNF220_uc010okz.2_Silent_p.I222I|RNF220_uc001clx.2_Silent_p.I196I|RNF220_uc001cma.1_Silent_p.I159I	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	480					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						ACAGCGACATCGAGAAGTAAG	0.592000														225			6		0	0	0.001984	0	0
PYGB	5834	broad.mit.edu	37	20	25259058	25259058	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:25259058G>A	uc002wup.3	+	7	1068	c.959G>A	c.(958-960)cGg>cAg	p.R320Q		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	320					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TTCGGCTGCCGGGACCCTGTG	0.622000														359			9		0	0	0.004482	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28213219	28213219	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:28213219C>T	uc003nks.1	-	4	1557	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.G283D	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	438					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AAAGGCTTTGCCACACATATT	0.483000														606			7		0	0	0.001984	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:106820987C>T	uc001tlp.3	+	12	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_uc001tlq.3_Missense_Mutation_p.L314F	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000														88			11		0	0	0.002450	0	0
CCDC170	80129	broad.mit.edu	37	6	151936716	151936716	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:151936716G>A	uc003qol.3	+	9	1938	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	617																	TGAGGCTAAGGAGAATAAAGA	0.403000														473			34		0	0	0.002836	0	0
SAMD10	140700	broad.mit.edu	37	20	62607110	62607110	+	Missense_Mutation	SNP	A	C	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:62607110A>C	uc002yhm.2	-	3	696	c.521T>G	c.(520-522)gTg>gGg	p.V174G	SAMD10_uc002yhn.2_Non-coding_Transcript	NM_080621	NP_542188	Q9BYL1	SAM10_HUMAN	Homo sapiens sterile alpha motif domain containing 10 (SAMD10), mRNA.	174	SAM.							p.V174V(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTGCTGCAGCACCTCCTGCCT	0.692000														319			24		0	0	0.003610	0	0
ABLIM2	84448	broad.mit.edu	37	4	8021973	8021973	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:8021973G>A	uc003gko.3	-	11	1369	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	ABLIM2_uc003gkk.3_Missense_Mutation_p.P72L|ABLIM2_uc003gkl.3_Intron|ABLIM2_uc003gkm.4_Intron|ABLIM2_uc003gkp.3_Intron|ABLIM2_uc003gkq.3_Missense_Mutation_p.P409L|ABLIM2_uc003gkr.3_Intron|ABLIM2_uc003gkj.4_Missense_Mutation_p.P442L|ABLIM2_uc003gks.3_Intron	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	409					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGTGGAGGGGGGCGGCTTGCT	0.632000														207			6		0	0	0.003080	0	0
LRTM2	654429	broad.mit.edu	37	12	1943539	1943539	+	Silent	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:1943539C>T	uc001qjt.2	+	4	1571	c.765C>T	c.(763-765)gaC>gaT	p.D255D	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.D255D|LRTM2_uc010sdx.1_Silent_p.D255D|LRTM2_uc001qjv.2_Silent_p.D17D	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	255						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)			AGCTGGAGGACGAGAATAGCT	0.637000														237			23		0	0	0.002299	0	0
FMN2	56776	broad.mit.edu	37	1	240374520	240374520	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:240374520G>A	uc010pye.2	+	6	4287	c.4062G>A	c.(4060-4062)aaG>aaA	p.K1354K	FMN2_uc010pyd.2_Silent_p.K1350K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1350	FH2.				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)			CTATCTCAAAGACGAAGGCTA	0.328000														545			18		0	0	0.006122	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109670416	109670416	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:109670416G>A	uc003hzc.3	-	7	1086	c.905C>T	c.(904-906)tCt>tTt	p.S302F	AGXT2L1_uc010imc.3_Missense_Mutation_p.S296F|AGXT2L1_uc011cfm.2_Missense_Mutation_p.S262F|AGXT2L1_uc011cfn.2_Missense_Mutation_p.S229F|AGXT2L1_uc011cfo.2_Missense_Mutation_p.S244F	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	302					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TTCCATCCCAGAGCTGCTGAA	0.408000														301			20		0	0	0.002299	0	0
ATG16L1	55054	broad.mit.edu	37	2	234182379	234182379	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:234182379G>A	uc002vty.3	+	7	1064	c.807G>A	c.(805-807)tcG>tcA	p.S269S	ATG16L1_uc021vyl.1_Silent_p.S153S|ATG16L1_uc002vub.3_Intron|ATG16L1_uc002vtz.3_Silent_p.S125S|ATG16L1_uc002vud.4_Silent_p.S185S|ATG16L1_uc002vua.3_Intron|ATG16L1_uc002vtx.2_Intron|SCARNA5_uc002vue.1_5'Flank	NM_030803	NP_001177196	Q676U5	A16L1_HUMAN	Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 1, mRNA.	269					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AGCGACTCTCGCAGCCTGCTG	0.383000														415			10		0	0	0.010729	0	0
NEFL	4747	broad.mit.edu	37	8	24813396	24813396	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:24813396G>A	uc003xee.3	-	0	736	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	212	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)		CTGTCGATGCGCTTCTCGAGC	0.627000														195			13		0	0	0.004007	0	0
OR2J3	442186	broad.mit.edu	37	6	29080438	29080438	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:29080438G>A	uc011dll.2	+	0	771	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	257					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						TTTTCATTCCGGCCATGTGCA	0.458000														397			52		0	0	0.003610	0	0
SEMA6C	10500	broad.mit.edu	37	1	151112146	151112146	+	Missense_Mutation	SNP	C	T	T	rs143410634		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:151112146C>T	uc001ewv.3	-	4	601	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	SEMA6C_uc001ewu.3_Missense_Mutation_p.E89K|SEMA6C_uc001eww.3_Missense_Mutation_p.E89K|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	89	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	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)			CCTTCTTCTTCGGCTTGAAGA	0.572000														231			9		0	0	0.006214	0	0
BC139719	0	broad.mit.edu	37	16	90160812	90160812	+	Silent	SNP	C	T	T	rs8050190	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:90160812C>T	uc002fqq.3	+	1	120	c.120C>T	c.(118-120)agC>agT	p.S40S	BC139719_uc002fqp.3_Silent_p.S95S					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		ACGGGGACAGCCACCTGCCGC	0.706000														37			3		0	0	0.001984	0	0
PCSK4	54760	broad.mit.edu	37	19	1487059	1487059	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:1487059G>A	uc002ltb.1	-	7	923	c.861C>T	c.(859-861)cgC>cgT	p.R287R	PCSK4_uc002lta.2_Silent_p.R99R	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	287	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		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)		CCAGCCCGCCGCGGCCCTGGG	0.697000														226			19		0	0	0.012319	0	0
VSTM1	284415	broad.mit.edu	37	19	54544289	54544289	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:54544289C>T	uc002qcw.4	-	8	813	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Missense_Mutation_p.A125T|VSTM1_uc002qcx.4_Missense_Mutation_p.A182T|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Missense_Mutation_p.A93T	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	213						integral to membrane		p.S212S(1)		breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCAGACAGGGCGCTGGTGCTT	0.517000														190			6		0	0	0.001168	0	0
ZFHX3	463	broad.mit.edu	37	16	72830460	72830460	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:72830460G>T	uc002fck.3	-	8	6794	c.6121C>A	c.(6121-6123)Cca>Aca	p.P2041T	ZFHX3_uc002fcl.3_Missense_Mutation_p.P1127T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2041	Poly-Pro.				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)				GGGGGAGGTGGTGGTGGCTCT	0.617000														277			21		2.89027e-11	3.09075e-11	0.002299	1	0
DOLPP1	57171	broad.mit.edu	37	9	131849065	131849065	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:131849065G>A	uc004bxc.3	+	6	696	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	DOLPP1_uc004bxd.3_Missense_Mutation_p.R180Q|DOLPP1_uc004bxe.3_Non-coding_Transcript	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	Homo sapiens dolichyl pyrophosphate phosphatase 1 (DOLPP1), transcript variant 1, mRNA.	223					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity	p.R223R(1)		endometrium(3)|kidney(2)|lung(7)|skin(1)	13						ACGGTAACCCGGGCAGAAGCC	0.597000														414			11		0	0	0.001368	0	0
STAP2	55620	broad.mit.edu	37	19	4329963	4329963	+	Silent	SNP	T	G	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:4329963T>G	uc002mab.3	-	4	641	c.450A>C	c.(448-450)acA>acC	p.T150T	STAP2_uc002mac.3_Silent_p.T150T|STAP2_uc021unb.1_Silent_p.T150T|STAP2_uc021unc.1_Silent_p.T150T|STAP2_uc002mad.3_Silent_p.T43T	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	150	SH2.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACGAGGGTGTCTCCAGTG	0.642000														103			15		0	0	0.013114	0	0
ZNF799	90576	broad.mit.edu	37	19	12502559	12502559	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:12502559G>A	uc010dyt.3	-	3	857	c.653C>T	c.(652-654)aCg>aTg	p.T218M	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TCCAGTGTGCGTTCTCTCATG	0.403000														682			94		0	0	0.003610	0	0
HLA-J	3137	broad.mit.edu	37	6	29857360	29857360	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:29857360G>A	uc021ytx.1	+	0	256	c.238G>A	c.(238-240)Gag>Aag	p.E80K	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Missense_Mutation_p.E80K|HLA-G_uc021ytv.1_3'UTR|HLA-G_uc010jro.3_3'UTR					Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.																		GGGTCTGCCCGAGCCCCTCAC	0.612000														157			7		0	0	0.001984	0	0
SLIT3	6586	broad.mit.edu	37	5	168244314	168244314	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:168244314C>T	uc010jjg.3	-	7	1204	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	SLIT3_uc003mab.3_Missense_Mutation_p.V262M|SLIT3_uc010jji.2_Missense_Mutation_p.V262M|SLIT3_uc003mac.1_Missense_Mutation_p.V59M	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	262	LRRCT 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			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)			CCTGGGCACACGTACTCCTTC	0.572000														235			18		0	0	0.004990	0	0
CCDC6	8030	broad.mit.edu	37	10	61666066	61666066	+	Silent	SNP	T	C	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:61666066T>C	uc001jks.4	-	0	349	c.117A>G	c.(115-117)ggA>ggG	p.G39G		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.	39	Poly-Gly.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		cgccgccgcctcccccgccgc	0.726000			T	RET	NSCLC									186			13		0	0	0.003610	0	0
LRCH3	84859	broad.mit.edu	37	3	197562601	197562601	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:197562601G>T	uc011bul.1	+	8	1164	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*	LRCH3_uc003fyj.1_Nonsense_Mutation_p.E387*|LRCH3_uc011bum.1_Nonsense_Mutation_p.E387*|LRCH3_uc011bun.1_Nonsense_Mutation_p.E261*|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.	387	Poly-Glu.					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)		AGAGGAAGAGGAGGCCGAGGT	0.507000														296			37		9.80977e-26	1.07385e-25	0.004289	1	0
C5orf49	134121	broad.mit.edu	37	5	7835544	7835544	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:7835544C>T	uc003jea.4	-	1	345	c.215G>A	c.(214-216)cGa>cAa	p.R72Q		NM_001089584	NP_001083053	A4QMS7	CE049_HUMAN	Homo sapiens chromosome 5 open reading frame 49 (C5orf49), mRNA.	72										large_intestine(3)|lung(5)|skin(1)	9						TCTGTCATCTCGGTGCAACTT	0.353000														604			89		0	0	0.003610	0	0
NUP54	53371	broad.mit.edu	37	4	77065403	77065403	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:77065403G>C	uc003hjs.3	-	2	322	c.194C>G	c.(193-195)aCt>aGt	p.T65S	NUP54_uc010ije.3_5'UTR|NUP54_uc011cbs.2_5'UTR|NUP54_uc011cbt.2_Intron|NUP54_uc003hjt.3_5'UTR	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	65	9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich.				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						GCCAAAACCAGTACCAAATCC	0.393000														797			120		0	0	0.003610	0	0
IGFBP4	3487	broad.mit.edu	37	17	38612726	38612726	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:38612726G>A	uc002hus.3	+	3	980	c.668G>A	c.(667-669)cGt>cAt	p.R223H		NM_001552	NP_001543	P22692	IBP4_HUMAN	Homo sapiens insulin-like growth factor binding protein 4 (IGFBP4), mRNA.	223	Thyroglobulin type-1.				DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GATGGGCAGCGTGGCAAGTGC	0.627000														443			9		0	0	0.008291	0	0
HTR6	3362	broad.mit.edu	37	1	20005583	20005583	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:20005583G>T	uc001bcl.3	+	2	1512	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S		NM_000871	NP_000862	P50406	5HT6R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	349					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GGCCAGCCTGGCCTCGCCATC	0.687000														179			13		6.31663e-08	6.63964e-08	0.003163	1	0
C12orf39	80763	broad.mit.edu	37	12	21680123	21680123	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:21680123G>A	uc001rfa.1	+	2	293	c.142G>A	c.(142-144)Gca>Aca	p.A48T	C12orf39_uc009ziv.1_5'Flank|C12orf39_uc009ziw.1_5'Flank	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	Homo sapiens chromosome 12 open reading frame 39 (C12orf39), mRNA.	48						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CCTGAAAGGGGCACGTAAGTT	0.458000														443			18		0	0	0.006122	0	0
CHEK2	11200	broad.mit.edu	37	22	29083951	29083951	+	Silent	SNP	G	A	A	rs142890589	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:29083951G>A	uc003adu.1	-	14	1638	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P	CHEK2_uc010gvj.1_Non-coding_Transcript|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Silent_p.P301P|CHEK2_uc010gvh.1_Silent_p.P431P|CHEK2_uc010gvi.1_Silent_p.P371P|CHEK2_uc003adt.1_Silent_p.P565P|CHEK2_uc003adv.1_Silent_p.P493P|CHEK2_uc003adx.1_Silent_p.P301P	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	522					DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCCTTCACGGGGCCGCTTTC	0.453000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						163			4		0	0	0.001168	0	0
SHKBP1	92799	broad.mit.edu	37	19	41089528	41089528	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:41089528G>A	uc002oob.3	+	11	1119	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	SHKBP1_uc002ooc.3_Missense_Mutation_p.R332H|SHKBP1_uc010xvl.1_Missense_Mutation_p.R280H|SHKBP1_uc002ooe.3_Missense_Mutation_p.R194H|SHKBP1_uc010xvm.2_Missense_Mutation_p.R194H|SHKBP1_uc010xvn.2_Missense_Mutation_p.R235H	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	357						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCCCCTTGCGCATGAAAGAC	0.622000														615			54		0	0	0.003610	0	0
KCNT1	57582	broad.mit.edu	37	9	138683989	138683989	+	Silent	SNP	C	T	T	rs141521745	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:138683989C>T	uc011mdq.2	+	30	3764	c.3690C>T	c.(3688-3690)cgC>cgT	p.R1230R	KCNT1_uc011mdr.2_Silent_p.R1078R|KCNT1_uc010nbf.3_Silent_p.R1206R	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1230						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCGAGACTCGCGACGAGACAC	0.667000														112			12		0	0	0.001368	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914427	147914427	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:147914427C>T	uc003weu.2	+	18	3574	c.3058C>T	c.(3058-3060)Cag>Tag	p.Q1020*		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1020					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)			ATATAACTTTCAGGCACCAGC	0.493000										HNSCC(39;0.1)				606			15		0	0	0.002450	0	0
SRP72	6731	broad.mit.edu	37	4	57333839	57333839	+	Missense_Mutation	SNP	C	G	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:57333839C>G	uc003hbv.3	+	0	78	c.38C>G	c.(37-39)gCg>gGg	p.A13G	SRP72_uc010ihe.3_Missense_Mutation_p.A13G	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	13					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	p.A13T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TCAGTACCTGCGCTGTGGAGT	0.667000														122			16		0	0	0.004007	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38133932	38133932	+	Silent	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:38133932C>T	uc003xli.3	-	22	4472	c.3954G>A	c.(3952-3954)caG>caA	p.Q1318Q	WHSC1L1_uc011lbm.2_Silent_p.Q1307Q|WHSC1L1_uc010lwe.3_Silent_p.Q1269Q|WHSC1L1_uc003xlh.3_Silent_p.Q97Q	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	1318					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTTCATGCATCTGCTTTGGTT	0.423000			T	NUP98	AML									226			22		0	0	0.010504	0	0
DHX30	22907	broad.mit.edu	37	3	47888007	47888007	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:47888007C>T	uc003cru.3	+	10	1871	c.1445C>T	c.(1444-1446)gCc>gTc	p.A482V	DHX30_uc003crt.3_Missense_Mutation_p.A443V	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	482	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGCCGAGGTGCCCGCTGCAAT	0.652000														755			8		0	0	0.004482	0	0
FAM83A	84985	broad.mit.edu	37	8	124219708	124219708	+	Missense_Mutation	SNP	A	C	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:124219708A>C	uc003ypv.3	+	4	3099	c.1085A>C	c.(1084-1086)cAc>cCc	p.H362P	FAM83A_uc003ypw.3_Intron|FAM83A_uc003ypx.3_Missense_Mutation_p.H362P|FAM83A_uc003ypy.3_Intron|FAM83A_uc003ypz.3_Intron	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	362	Pro-rich.									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)			GCGGCCCCACACCCGCCTCCA	0.766000														63			7		0	0	0.012319	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887547	12887547	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:12887547G>A	uc001auk.2	-	2	506	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	104								p.R104W(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AAGGGCTGCCGTTCTCTCATC	0.498000														696			107		0	0	0.003610	0	0
NOS1	4842	broad.mit.edu	37	12	117768312	117768312	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:117768312G>A	uc001twn.2	-	1	1274	c.563C>T	c.(562-564)gCg>gTg	p.A188V	NOS1_uc001twm.2_Missense_Mutation_p.A188V	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)	TGCTTTCTTCGCGGGGTCCTG	0.632000														738			29		0	0	0.008361	0	0
SDPR	8436	broad.mit.edu	37	2	192701269	192701269	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:192701269C>T	uc002utb.3	-	1	1013	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	220						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)	ACCTTTTCCTCGGCACTGTCT	0.493000														723			58		0	0	0.003610	0	0
FOXI2	399823	broad.mit.edu	37	10	129536923	129536923	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:129536923G>A	uc009yas.2	+	1	651	c.651G>A	c.(649-651)gcG>gcA	p.A217A	BC132944_uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	Homo sapiens forkhead box I2 (FOXI2), mRNA.	217					epidermal cell fate specification|otic placode formation|pattern specification process|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			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				GGGCCGAGGCGCCAGCGCTGG	0.687000														44			12		0	0	0.010729	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133958614	133958614	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:133958614C>T	uc001lkx.4	+	10	1606	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	JAKMIP3_uc009yba.1_5'UTR	NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCTACAGACCCGTGAGCAGCT	0.572000														86			8		0	0	0.004482	0	0
AL117485	0	broad.mit.edu	37	22	18846006	18846006	+	RNA	SNP	A	G	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:18846006A>G	uc002zoe.3	+	4		c.2368A>G			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCGCAGGCCGACACTCACTGA	0.617000														361			6		0	0	0.001168	0	0
ACR	49	broad.mit.edu	37	22	51183206	51183206	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:51183206G>T	uc003bnh.4	+	4	849	c.837G>T	c.(835-837)tgG>tgT	p.W279C		NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	279	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCCACCTGGCCCTATCTGA	0.597000														107			7		2.0095e-06	2.10032e-06	0.001984	1	0
COL6A2	1292	broad.mit.edu	37	21	47532319	47532319	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:47532319G>A	uc002zia.1	+	2	624	c.542G>A	c.(541-543)cGc>cAc	p.R181H	COL6A2_uc002zhz.1_Missense_Mutation_p.R181H|COL6A2_uc002zhy.1_Missense_Mutation_p.R181H	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	181	Nonhelical region.|VWFA 1.				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)		GAGCGGGCCCGCGAGGAGGGC	0.711000														142			7		0	0	0.001984	0	0
SOX8	30812	broad.mit.edu	37	16	1035280	1035280	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:1035280G>A	uc002ckn.3	+	2	1350	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_014587	NP_055402	P57073	SOX8_HUMAN	Homo sapiens SRY (sex determining region Y)-box 8 (SOX8), mRNA.	412					Sertoli cell development|adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CACTCGCCGCGCCGGCCCTAC	0.692000														137			23		0	0	0.002299	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085557	64085557	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:64085557G>A	uc003dmf.3	-	7	2291	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	569						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)		ATGGAAAATCGGGATAGGTGC	0.537000														711			68		0	0	0.003610	0	0
SEC14L1	6397	broad.mit.edu	37	17	75205427	75205427	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:75205427G>A	uc010dhc.3	+	13	1800	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	SEC14L1_uc021udw.1_Missense_Mutation_p.E494K|SEC14L1_uc021udx.1_Missense_Mutation_p.E494K|SEC14L1_uc002jto.3_Missense_Mutation_p.E494K|SEC14L1_uc010wth.2_Missense_Mutation_p.E494K|SEC14L1_uc002jtm.3_Missense_Mutation_p.E494K|SEC14L1_uc010wti.2_Missense_Mutation_p.E460K|SEC14L1_uc010wtj.1_Missense_Mutation_p.E54K|SEC14L1_uc002jtr.2_5'UTR	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	494	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CTTCCAGTGCGAAGTGCCAGA	0.547000														171			6		0	0	0.001984	0	0
MTUS2	23281	broad.mit.edu	37	13	29598940	29598940	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr13:29598940G>A	uc001usl.4	+	0	193	c.135G>A	c.(133-135)acG>acA	p.T45T		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	35						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						TGGGAGATACGAATGCCAATC	0.438000														214			10		0	0	0.006214	0	0
CHST6	4166	broad.mit.edu	37	16	75512997	75512997	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:75512997C>T	uc021tlj.1	-	0	730	c.730G>A	c.(730-732)Gag>Aag	p.E244K	CHST6_uc002fef.3_Missense_Mutation_p.E244K|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.E244K	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	244					N-acetylglucosamine metabolic process|keratan sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGGCACACCTCGCGCACCACG	0.716000														198			28		0	0	0.007291	0	0
TNRC6C	57690	broad.mit.edu	37	17	76047044	76047044	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:76047044C>T	uc002jud.2	+	3	2501	c.1901C>T	c.(1900-1902)aCg>aTg	p.T634M	TNRC6C_uc002juf.2_Missense_Mutation_p.T634M|TNRC6C_uc002jue.2_Missense_Mutation_p.T634M	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	634	Sufficient for interaction with argonaute family proteins.				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)			AATGACACCACGAGATCTGGG	0.507000														270			9		0	0	0.004482	0	0
THAP2	83591	broad.mit.edu	37	12	72070632	72070632	+	Missense_Mutation	SNP	A	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:72070632A>T	uc001swq.3	+	2	1044	c.431A>T	c.(430-432)gAa>gTa	p.E144V		NM_031435	NP_113623	Q9H0W7	THAP2_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 2 (THAP2), mRNA.	144						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						CTGGAAAAAGAAATAGCAAGC	0.358000														248			33		0	0	0.012213	0	0
NPTX2	4885	broad.mit.edu	37	7	98254349	98254349	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:98254349C>A	uc003upl.2	+	2	936	c.759C>A	c.(757-759)tgC>tgA	p.C253*		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	253	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCACCATCTGCCTGTGGCTGC	0.597000														862			27		1.99505e-19	2.17109e-19	0.012213	1	0
NRBP1	29959	broad.mit.edu	37	2	27656328	27656328	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27656328G>A	uc002rko.3	+	2	1020	c.188G>A	c.(187-189)cGc>cAc	p.R63H	NRBP1_uc002rkp.3_Missense_Mutation_p.R63H|NRBP1_uc002rkr.3_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA.	63				R -> G (in Ref. 4; BAD96856).	ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCCTGTGGGCGCTGGCAGAAG	0.493000														163			28		0	0	0.004656	0	0
KANK2	25959	broad.mit.edu	37	19	11304177	11304177	+	Silent	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:11304177C>T	uc002mqm.3	-	1	658	c.579G>A	c.(577-579)gcG>gcA	p.A193A	KANK2_uc021upe.1_Silent_p.A193A|KANK2_uc002mqo.4_Silent_p.A193A|KANK2_uc002mqp.1_Silent_p.A2A|KANK2_uc002mqq.3_Silent_p.A193A	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	193										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCAGGGCACCCGCCATCTGCT	0.677000														233			11		0	0	0.008291	0	0
OBSCN	84033	broad.mit.edu	37	1	228467882	228467882	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:228467882C>T	uc009xez.1	+	28	7710	c.7666C>T	c.(7666-7668)Cgg>Tgg	p.R2556W	OBSCN_uc001hsn.3_Missense_Mutation_p.R2556W|OBSCN_uc001hsp.1_Missense_Mutation_p.R255W|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2556	Ig-like 24.				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)				TCTTGCAGCGCGGGAGGTGAC	0.642000														331			26		0	0	0.009535	0	0
MYO5B	4645	broad.mit.edu	37	18	47352977	47352977	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:47352977C>T	uc002leb.2	-	39	5699	c.5411G>A	c.(5410-5412)cGg>cAg	p.R1804Q	MYO5B_uc002ldz.3_Missense_Mutation_p.R374Q|MYO5B_uc002lea.2_Missense_Mutation_p.R919Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1804					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)		AGGGTCATTCCGCTCTTGTAG	0.408000														447			5		0	0	0.001168	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111150	7111150	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:7111150G>A	uc001mfc.2	+	0	986	c.799G>A	c.(799-801)Gac>Aac	p.D267N		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	267	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding	p.D267D(1)|p.R266H(1)		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)		CGGAGGTCGCGACCGTGACTA	0.672000														189			32		0	0	0.012213	0	0
KIF21A	55605	broad.mit.edu	37	12	39727027	39727027	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:39727027C>T	uc001rly.3	-	17	2894	c.2474G>A	c.(2473-2475)cGc>cAc	p.R825H	KIF21A_uc001rlv.3_5'Flank|KIF21A_uc001rlw.3_Missense_Mutation_p.R142H|KIF21A_uc001rlx.3_Missense_Mutation_p.R812H|KIF21A_uc001rlz.3_Intron|KIF21A_uc010skl.2_Missense_Mutation_p.R812H	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	825					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCAGTTTTGCGACGTAGAAC	0.338000														837			9		0	0	0.001168	0	0
POLR2A	5430	broad.mit.edu	37	17	7401054	7401054	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:7401054G>A	uc002ghf.4	+	6	1453	c.1067G>A	c.(1066-1068)gGc>gAc	p.G356D	POLR2A_uc002ghe.3_Missense_Mutation_p.G356D	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	356					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)				AACCTGATGGGCAAAAGAGTG	0.602000														423			5		0	0	0.001168	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516228	138516228	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:138516228G>A	uc010nbd.1	-	4	800	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	182					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TCTCCACCCCGAACTCATTCT	0.577000														366			31		0	0	0.010818	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790812	194790812	+	Missense_Mutation	SNP	T	C	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:194790812T>C	uc003fum.4	-	3	922	c.814A>G	c.(814-816)Aac>Gac	p.N272D	XXYLT1_uc003ful.3_Missense_Mutation_p.N69D|XXYLT1_uc003fuk.3_Missense_Mutation_p.N66D	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Homo sapiens xyloside xylosyltransferase 1 (XXYLT1), mRNA.	272						integral to membrane	transferase activity, transferring glycosyl groups										GTCTGGGGGTTCTCATGGCGG	0.672000														302			18		0	0	0.007413	0	0
ABCG5	64240	broad.mit.edu	37	2	44051560	44051560	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:44051560A>G	uc002rtn.3	-	7	1056	c.916T>C	c.(916-918)Tca>Cca	p.S306P	ABCG5_uc002rtm.3_Intron|ABCG5_uc002rto.3_Missense_Mutation_p.S135P|ABCG5_uc002rtp.3_Intron	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	306					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			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTATCCACTGACGTCAGGTCC	0.393000														670			56		0	0	0.003610	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559035	140559035	+	Missense_Mutation	SNP	G	A	A	rs149925643		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:140559035G>A	uc011dai.2	+	0	1665	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	474	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V474I(4)|p.S473R(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCGGCAGCGTCAGCGCCAC	0.662000														728			11		0	0	0.006214	0	0
POLG	5428	broad.mit.edu	37	15	89876526	89876526	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr15:89876526C>T	uc002bns.4	-	1	742	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	POLG_uc002bnr.4_Missense_Mutation_p.A154T|TRNA_Arg_uc021sue.1_5'Flank	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	154					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AGCAAGTTGGCCGCCTCCAGG	0.731000								DNA polymerases (catalytic subunits)						51			3		0	0	0.004672	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28337977	28337977	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:28337977G>A	uc002ymg.3	-	0	1463	c.734C>T	c.(733-735)tCg>tTg	p.S245L		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	245					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCCAGCGGGCGAGAGAGCGGA	0.741000														43			7		0	0	0.003080	0	0
ADRA1A	148	broad.mit.edu	37	8	26627800	26627800	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:26627800G>A	uc003xfc.1	-	1	1703	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.R423W|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.R423W|ADRA1A_uc003xfh.1_Missense_Mutation_p.R423W	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	423					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTCTCACCCGGGCTGTGGTA	0.507000														626			42		0	0	0.007835	0	0
LOC494141	494141	broad.mit.edu	37	11	18231799	18231799	+	RNA	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:18231799C>T	uc009yhh.3	+	1		c.823C>T			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		TTTTTTTTTTCGGCCTTCGAG	0.453000														283			5		0	0	0.001168	0	0
LRRN1	57633	broad.mit.edu	37	3	3888175	3888175	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:3888175C>T	uc003bpt.4	+	1	2611	c.1850C>T	c.(1849-1851)gCc>gTc	p.A617V	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.A617V	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	617						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACCAAAAATGCCGCCTTCGCA	0.473000														448			5		0	0	0.000602	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99325653	99325653	+	Silent	SNP	T	C	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:99325653T>C	uc003htw.4	+	6	856	c.666T>C	c.(664-666)agT>agC	p.S222S	RAP1GDS1_uc003htx.4_Silent_p.S221S|RAP1GDS1_uc003htv.4_Silent_p.S222S|RAP1GDS1_uc003htz.4_Silent_p.S172S|RAP1GDS1_uc003hty.4_Silent_p.S173S|RAP1GDS1_uc003hua.4_Silent_p.S130S	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	221							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AGTTTGCCAGTACAAACATTG	0.299000			T	NUP98	T-ALL									263			30		0	0	0.008361	0	0
LRP3	4037	broad.mit.edu	37	19	33696374	33696374	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:33696374G>A	uc010edh.3	+	4	791	c.698G>A	c.(697-699)cGc>cAc	p.R233H	LRP3_uc010xrp.1_Missense_Mutation_p.R107H|LRP3_uc002nuk.4_Missense_Mutation_p.R107H	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	233	LDL-receptor class A 2.				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)					GTGGAGCGGCGCTGTGACGGC	0.756000														46			3		0	0	0.004672	0	0
ZFAND4	93550	broad.mit.edu	37	10	46143814	46143814	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:46143814G>A	uc001jcp.4	-	4	739	c.497C>T	c.(496-498)cCg>cTg	p.P166L	ZFAND4_uc001jcl.4_5'UTR|ZFAND4_uc001jcm.4_Missense_Mutation_p.P166L|ZFAND4_uc009xmu.3_Missense_Mutation_p.P92L|ZFAND4_uc001jcn.4_Missense_Mutation_p.P92L|ZFAND4_uc001jco.4_Missense_Mutation_p.P166L|ZFAND4_uc001jcq.2_Non-coding_Transcript	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	166							zinc ion binding										GTCAGATAACGGTGTTAAAGT	0.378000														577			17		0	0	0.006122	0	0
ANK3	288	broad.mit.edu	37	10	61946485	61946485	+	Missense_Mutation	SNP	G	C	C	rs139111941		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:61946485G>C	uc001jky.3	-	16	2411	c.2073C>G	c.(2071-2073)aaC>aaG	p.N691K	ANK3_uc010qih.2_Missense_Mutation_p.N674K|ANK3_uc001jkz.4_Missense_Mutation_p.N685K|ANK3_uc001jlb.1_Missense_Mutation_p.N220K|ANK3_uc001jlc.1_Missense_Mutation_p.N352K	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	691					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						TATTGCTCAGGTTCACATTCG	0.502000														181			9		0	0	0.006214	0	0
ADCYAP1	116	broad.mit.edu	37	18	909573	909573	+	Silent	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:909573C>T	uc010dkg.3	+	4	587	c.468C>T	c.(466-468)gcC>gcT	p.A156A	ADCYAP1_uc010dkh.3_Silent_p.A156A	NM_001099733	NP_001108	P18509	PACA_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) (ADCYAP1), transcript variant 1, mRNA.	156	Important for receptor binding.				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ACTTGGCGGCCGTCCTAGGGA	0.527000														781			48		0	0	0.003610	0	0
PTPRU	10076	broad.mit.edu	37	1	29606569	29606569	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:29606569C>T	uc001bru.3	+	10	1913	c.1784C>T	c.(1783-1785)gCc>gTc	p.A595V	PTPRU_uc009vtq.3_Missense_Mutation_p.A595V|PTPRU_uc009vtr.3_Missense_Mutation_p.A595V|PTPRU_uc001brw.3_Missense_Mutation_p.A595V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	595	Fibronectin type-III 4.				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)		TTTGATTATGCCGACATGCCG	0.637000														203			4		0	0	0.001984	0	0
WDR17	116966	broad.mit.edu	37	4	177100634	177100634	+	Silent	SNP	C	T	T	rs142280699	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:177100634C>T	uc003iuj.3	+	30	4176	c.3873C>T	c.(3871-3873)gaC>gaT	p.D1291D	WDR17_uc003ium.4_Silent_p.D1252D|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Silent_p.D502D	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	1291										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)		TCCTTGAAGACGGGAAATCTG	0.393000														506			16		0	0	0.003163	0	0
LINGO2	158038	broad.mit.edu	37	9	27950456	27950456	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:27950456C>T	uc003zqv.1	-	6	864	c.214G>A	c.(214-216)Gtc>Atc	p.V72I	LINGO2_uc010mjf.1_Missense_Mutation_p.V72I|LINGO2_uc003zqu.1_Missense_Mutation_p.V72I|LINGO2_uc022bfc.1_Missense_Mutation_p.V72I	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	72						integral to membrane		p.S71N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCAGGGTTGACGCTTTTTAGC	0.438000														693			119		0	0	0.003610	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274020	39274020	+	Missense_Mutation	SNP	C	G	G	rs80129796	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:39274020C>G	uc002hvz.3	-	0	587	c.548G>C	c.(547-549)aGc>aCc	p.S183T		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	183						keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCGGGGGCAGCTGGAGATGAC	0.622000														48			3		0	0	0.001168	0	0
TMEM214	54867	broad.mit.edu	37	2	27259447	27259447	+	Silent	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27259447C>T	uc002ria.4	+	5	923	c.813C>T	c.(811-813)acC>acT	p.T271T	TMEM214_uc002rib.4_Silent_p.T226T	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	271						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCAACCTCACCGAGGGACTGA	0.567000														660			62		0	0	0.003610	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:20414379G>A	uc003zoe.2	-	4	724	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_uc011lne.1_Silent_p.S123S|MLLT3_uc011lnf.1_Silent_p.S152S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(8)		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)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL									209			6		0	0	0.001984	0	0
ADAM23	8745	broad.mit.edu	37	2	207452819	207452819	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:207452819G>A	uc002vbq.3	+	19	2016	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	598	Cys-rich.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCCCAGGGCCGCTGCTACAAT	0.498000														321			40		0	0	0.003610	0	0
PPP1R18	170954	broad.mit.edu	37	6	30653408	30653408	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:30653408G>A	uc003nra.3	-	1	619	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	PPP1R18_uc003nrb.4_Missense_Mutation_p.R130W	NM_001134870	NP_597728	Q6NYC8	PHTNS_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA.	130						cytoplasm|cytoskeleton	actin binding										CTCTGATCCCGCATCTCCCCA	0.612000														800			8		0	0	0.003080	0	0
CHEK2	11200	broad.mit.edu	37	22	29083962	29083962	+	Missense_Mutation	SNP	G	C	C	rs138839489	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:29083962G>C	uc003adu.1	-	14	1627	c.1555C>G	c.(1555-1557)Cga>Gga	p.R519G	CHEK2_uc010gvj.1_Non-coding_Transcript|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.R298G|CHEK2_uc010gvh.1_Missense_Mutation_p.R428G|CHEK2_uc010gvi.1_Missense_Mutation_p.R368G|CHEK2_uc003adt.1_Missense_Mutation_p.R562G|CHEK2_uc003adv.1_Missense_Mutation_p.R490G|CHEK2_uc003adx.1_Missense_Mutation_p.R298G	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	519					DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R519G(2)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GGCCGCTTTCGACTAGTAGAA	0.463000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						165			4		0	0	0.001168	0	0
FSTL4	23105	broad.mit.edu	37	5	132534846	132534846	+	Missense_Mutation	SNP	G	A	A	rs150466282	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:132534846G>A	uc003kyn.1	-	15	2688	c.2470C>T	c.(2470-2472)Cgg>Tgg	p.R824W	FSTL4_uc003kym.1_Missense_Mutation_p.R473W	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	824						extracellular region	calcium ion binding			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)			ACCTCACACCGCAGCGTGTTT	0.577000														256			10		0	0	0.008291	0	0
RBBP8	5932	broad.mit.edu	37	18	20572961	20572961	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:20572961G>A	uc002kua.3	+	10	1294	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	RBBP8_uc002ktw.3_Missense_Mutation_p.G391R|RBBP8_uc002kty.3_Missense_Mutation_p.G391R|RBBP8_uc002ktz.3_Missense_Mutation_p.G391R|RBBP8_uc002ktx.1_Missense_Mutation_p.G391R	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	391					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)			TCACAGTCTTGGGTCTGAAGT	0.333000								Homologous recombination						719			103		0	0	0.003610	0	0
EP400	57634	broad.mit.edu	37	12	132466743	132466743	+	Missense_Mutation	SNP	T	C	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:132466743T>C	uc001ujn.3	+	4	1801	c.1649T>C	c.(1648-1650)tTg>tCg	p.L550S	EP400_uc021rgq.1_Missense_Mutation_p.L549S|EP400_uc001ujm.3_Missense_Mutation_p.L550S|EP400_uc001ujj.2_Missense_Mutation_p.L513S|EP400_uc001ujk.3_Missense_Mutation_p.L586S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	586					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)		GCTGCCAGCTTGCACACCCCA	0.697000														632			48		0	0	0.003610	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31859948	31859948	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:31859948G>A	uc003akz.2	-	4	502	c.304C>T	c.(304-306)Cga>Tga	p.R102*	EIF4ENIF1_uc003ala.2_Nonsense_Mutation_p.R102*|EIF4ENIF1_uc003alb.2_Intron	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	102						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACACGCTCTCGTGGATCTGGA	0.502000														310			14		0	0	0.001855	0	0
SETD2	29072	broad.mit.edu	37	3	47125634	47125634	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:47125634C>T	uc003cqv.3	-	12	5923	c.5837G>A	c.(5836-5838)cGc>cAc	p.R1946H	SETD2_uc003cqs.3_Missense_Mutation_p.R1879H|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1879					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)		TTTCAGTCTGCGAAACATTAG	0.443000			"""N, F, S, Mis"""		clear cell renal carcinoma									771			30		0	0	0.002836	0	0
EMR2	30817	broad.mit.edu	37	19	14862377	14862377	+	Missense_Mutation	SNP	G	A	A	rs45563436		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:14862377G>A	uc002mzp.1	-	15	2351	c.1895C>T	c.(1894-1896)aCg>aTg	p.T632M	EMR2_uc010dzs.1_Missense_Mutation_p.T91M|EMR2_uc010xnw.1_Missense_Mutation_p.T574M|EMR2_uc002mzo.1_Missense_Mutation_p.T621M|EMR2_uc002mzq.1_Missense_Mutation_p.T572M|EMR2_uc002mzr.1_Missense_Mutation_p.T583M|EMR2_uc002mzs.1_Missense_Mutation_p.T490M|EMR2_uc002mzt.1_Missense_Mutation_p.T528M|EMR2_uc002mzu.1_Missense_Mutation_p.T539M|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.	632					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						GTTGACCACCGTCAGGTTCCG	0.557000														344			46		0	0	0.011902	0	0
OR4K17	390436	broad.mit.edu	37	14	20585888	20585888	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr14:20585888C>T	uc001vwo.1	+	0	323	c.323C>T	c.(322-324)gCc>gTc	p.A108V		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A108V(2)		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)		GCTTCTTTTGCCACCCCTAAG	0.398000														947			7		0	0	0.000602	0	0
SLC45A4	57210	broad.mit.edu	37	8	142229763	142229763	+	Missense_Mutation	SNP	T	C	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:142229763T>C	uc003ywd.1	-	2	751	c.443A>G	c.(442-444)cAc>cGc	p.H148R	SLC45A4_uc003ywc.1_Missense_Mutation_p.H148R|SLC45A4_uc010meq.1_Missense_Mutation_p.H146R	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	199					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)			AGAGAAGGCGTGGATGTTGAG	0.667000														94			28		0	0	0.008361	0	0
LAS1L	81887	broad.mit.edu	37	X	64738237	64738237	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:64738237G>A	uc004dwa.2	-	11	1648	c.1557C>T	c.(1555-1557)ggC>ggT	p.G519G	LAS1L_uc004dwc.2_Silent_p.G502G|LAS1L_uc004dwd.2_Silent_p.G460G|LAS1L_uc004dvz.2_Silent_p.G32G|LAS1L_uc004dvy.1_Silent_p.G32G	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	519						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						AGGCCTCAGAGCCCTCCTGCA	0.582000														278			20		0	0	0.010504	0	0
RSBN1L	222194	broad.mit.edu	37	7	77379157	77379157	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:77379157C>T	uc010ldt.1	+	2	1164	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	374						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCACCTGTCTCCTATGGAGAT	0.453000														623			74		0	0	0.003610	0	0
PEX5L	51555	broad.mit.edu	37	3	179519804	179519804	+	Missense_Mutation	SNP	A	C	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:179519804A>C	uc003fki.1	-	14	1823	c.1693T>G	c.(1693-1695)Ttt>Gtt	p.F565V	PEX5L_uc011bqd.1_Missense_Mutation_p.F522V|PEX5L_uc011bqe.1_Missense_Mutation_p.F373V|PEX5L_uc011bqf.1_Missense_Mutation_p.F457V|PEX5L_uc003fkj.1_Missense_Mutation_p.F530V|PEX5L_uc010hxd.1_Missense_Mutation_p.F563V|PEX5L_uc011bqg.1_Missense_Mutation_p.F541V|PEX5L_uc011bqh.1_Missense_Mutation_p.F506V	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	565					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCAGTGAGAAAATTGCTGACC	0.393000														542			92		0	0	0.003610	0	0
OR8B12	219858	broad.mit.edu	37	11	124413511	124413511	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:124413511C>T	uc010sam.2	-	0	40	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L13L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GTTAAGCCTTCGAGGATAAAC	0.527000														341			46		0	0	0.003610	0	0
MMRN2	79812	broad.mit.edu	37	10	88702296	88702296	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:88702296G>A	uc001kea.3	-	5	2372	c.2245C>T	c.(2245-2247)Cgg>Tgg	p.R749W	MMRN2_uc010qmn.2_Missense_Mutation_p.R392W|MMRN2_uc009xtb.2_Missense_Mutation_p.R706W	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	749						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGGAAGAGCCGCTGGTGCTGC	0.652000														414			13		0	0	0.002450	0	0
C12orf51	283450	broad.mit.edu	37	12	112622141	112622141	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:112622141G>A	uc021reb.1	-	60	10623	c.10227C>T	c.(10225-10227)acC>acT	p.T3409T		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						ccaggctgccGGTGCTGCACA	0.677000														249			16		0	0	0.003163	0	0
FCGBP	8857	broad.mit.edu	37	19	40367824	40367824	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:40367824G>A	uc002omp.4	-	28	13144	c.13136C>T	c.(13135-13137)gCc>gTc	p.A4379V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4379	TIL 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCACATACGGCTGGCGTCGT	0.642000														197			4		0	0	0.009096	0	0
WDR33	55339	broad.mit.edu	37	2	128471489	128471489	+	Silent	SNP	A	C	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:128471489A>C	uc002tpg.2	-	17	3175	c.2976T>G	c.(2974-2976)ggT>ggG	p.G992G		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	992					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.R991L(1)		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)		AGTCCTGGCCACCCCGGAAAG	0.662000														576			30		0	0	0.003610	0	0
SPTB	6710	broad.mit.edu	37	14	65271700	65271700	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr14:65271700C>T	uc001xht.3	-	1	308	c.257G>A	c.(256-258)cGc>cAc	p.R86H	SPTB_uc001xhr.3_Missense_Mutation_p.R86H|SPTB_uc001xhs.3_Missense_Mutation_p.R86H|SPTB_uc001xhu.3_Missense_Mutation_p.R86H	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	86	Actin-binding.|CH 1.				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	p.R86C(2)		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)		GATGAGCATGCGCCCATCCCG	0.582000														474			7		0	0	0.003080	0	0
ZNF534	147658	broad.mit.edu	37	19	52942354	52942354	+	Silent	SNP	A	G	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:52942354A>G	uc002pzk.3	+	3	1747	c.1680A>G	c.(1678-1680)gaA>gaG	p.E560E	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.E547E	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	560					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						ATACTGGAGAAAAGCCTTACA	0.433000														66			3		0	0	0.009096	0	0
BEND2	139105	broad.mit.edu	37	X	18189251	18189251	+	Silent	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:18189251G>A	uc004cyj.4	-	12	2209	c.2055C>T	c.(2053-2055)tgC>tgT	p.C685C	BEND2_uc010nfb.2_Silent_p.C594C	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	685	BEN 2.							p.C685C(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACAGGCTTGCGCAAGACTTAG	0.428000														304			33		0	0	0.009535	0	0
BC101079	0	broad.mit.edu	37	15	102292770	102292770	+	Nonsense_Mutation	SNP	C	T	T	rs149751844	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr15:102292770C>T	uc010usj.2	+	3	417	c.358C>T	c.(358-360)Cga>Tga	p.R120*	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		AGCGGCGCGACGAGATGCTGC	0.597000														85			12		0	0	0.003163	0	0
NLRP14	338323	broad.mit.edu	37	11	7065142	7065142	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:7065142C>T	uc001mfb.1	+	3	2208	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	629					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)		CCGGTGTTTGCGGACCATCAG	0.423000														459			5		0	0	0.000602	0	0
ULBP2	80328	broad.mit.edu	37	6	150263283	150263283	+	Silent	SNP	T	G	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:150263283T>G	uc003qno.3	+	0	148	c.75T>G	c.(73-75)gcT>gcG	p.A25A	ULBP2_uc011eeh.1_Silent_p.A25A|ULBP2_uc010kij.3_Silent_p.A25A	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	Homo sapiens UL16 binding protein 2 (ULBP2), mRNA.	25					antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|cell surface|extracellular space	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GGTCCCGGGCTGGGCGAGCCG	0.657000														63			6		0	0	0.006999	0	0
ACSS1	84532	broad.mit.edu	37	20	24993297	24993297	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:24993297C>T	uc002wub.3	-	11	1791	c.1711G>A	c.(1711-1713)Gac>Aac	p.D571N	ACSS1_uc002wuc.3_Missense_Mutation_p.D569N|ACSS1_uc021wbm.1_Intron|ACSS1_uc010gdc.3_Missense_Mutation_p.D366N|ACSS1_uc002wua.3_Missense_Mutation_p.D488N|ACSS1_uc021wbl.1_Missense_Mutation_p.D450N|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	571					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCAGGGTGGTCGGCCTGTGTA	0.577000														664			22		0	0	0.002780	0	0
CHRNA1	1134	broad.mit.edu	37	2	175619033	175619033	+	Missense_Mutation	SNP	C	T	T	rs137852807		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:175619033C>T	uc002ujd.2	-	5	607	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.V152I|CHRNA1_uc002ujf.4_Missense_Mutation_p.V152I	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	177			V -> L (in FCCMS; mutant channel shows an approximately 30-fold decrease of ACh binding affinity for the second of 2 closed-state binding sites but only a 2- fold decrease in gating efficiency).		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						AAGTGGGTGACGATGATCTCA	0.527000														386			22		0	0	0.002780	0	0
OSBPL10	114884	broad.mit.edu	37	3	31725318	31725318	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:31725318G>A	uc021wuu.1	-	7	2205	c.1534C>T	c.(1534-1536)Cac>Tac	p.H512Y	OSBPL10_uc003ceu.1_Missense_Mutation_p.H269Y|OSBPL10_uc011axf.2_Missense_Mutation_p.H448Y	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	512					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GGGTGTTCGTGACAGCTGGCA	0.537000														539			45		0	0	0.003610	0	0
FMO2	2327	broad.mit.edu	37	1	171174741	171174741	+	Missense_Mutation	SNP	T	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:171174741T>A	uc001ghk.1	+	6	1268	c.1151T>A	c.(1150-1152)cTt>cAt	p.L384H	FMO2_uc010pmd.1_Missense_Mutation_p.L164H	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	384					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)					ACTGCTGAACTTCAAGCTCGT	0.453000														218			12		0	0	0.010729	0	0
AGBL5	60509	broad.mit.edu	37	2	27276415	27276415	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27276415C>T	uc002rie.3	+	2	578	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	AGBL5_uc002rid.3_Missense_Mutation_p.R121C|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	121					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGCTGGGAACGCATTCGAGA	0.502000														374			39		0	0	0.006230	0	0
C21orf2	755	broad.mit.edu	37	21	45753013	45753013	+	Silent	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:45753013C>T	uc002zeq.2	-	3	484	c.276G>A	c.(274-276)ctG>ctA	p.L92L	C21orf2_uc002zeo.1_Silent_p.L51L|C21orf2_uc002zep.2_Silent_p.L92L|C21orf2_uc002zer.2_Silent_p.L92L	NM_004928	NP_004919	O43822	CU002_HUMAN	Homo sapiens chromosome 21 open reading frame 2 (C21orf2), mRNA.	92										endometrium(2)	2				Colorectal(79;0.0806)		CGGCCAGCCACAGCACCCGCA	0.687000														107			12		0	0	0.001855	0	0
HCN1	348980	broad.mit.edu	37	5	45267329	45267329	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:45267329G>A	uc003jok.3	-	6	1670	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	549						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R548H(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGGCAGTACGACGTCCTTTG	0.408000														376			10		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179569435	179569435	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:179569435C>T	uc021vsy.1	-	101	26257	c.26032G>A	c.(26032-26034)Gac>Aac	p.D8678N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D5339N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9605	Ig-like 69.						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)			ATTTTAATGTCAATTTCAAAG	0.333000														133			13		0	0	0.001368	0	0
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:124418865C>T	uc003ehg.3	+	55	8108	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	KALRN_uc003ehk.3_Nonsense_Mutation_p.R964*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2660					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						GGAGTTTGTGCGACTTCCAGA	0.597000														620			6		0	0	0.003080	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	T	T	rs121913529		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				108			11		0	0	0.010729	0	0
TCHH	7062	broad.mit.edu	37	1	152085461	152085462	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:152085461_152085462insA	uc009wne.1	-	2	503_504	c.231_232insT	c.(229-234)tttattfs	p.F77fs	TCHH_uc001ezp.2_Frame_Shift_Ins_p.F77fs	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	77	EF-hand 2.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTTGAAAATAAATAGGAGGA	0.485													---	400	---	---	11	---					
NR1I3	9970	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	G	G	rs139473535	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:161202999_161203000insG	uc001fzx.3	-	3	570_571	c.367_368insC	c.(367-369)cgcfs	p.R123fs	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzm.3_Frame_Shift_Ins_p.R48fs|NR1I3_uc001fzn.3_Intron|NR1I3_uc001fzf.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Intron|NR1I3_uc001fzq.3_Intron|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzw.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzz.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzh.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001gab.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001gac.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzp.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzg.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001gaa.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzj.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzi.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzl.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzk.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc010pkm.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc010pkn.1_Frame_Shift_Ins_p.R123fs	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	123					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564													---	1430	---	---	8	---					
BIN1	274	broad.mit.edu	37	2	127808793	127808794	+	Frame_Shift_Ins	INS	-	CCCG	CCCG			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:127808793_127808794insCCCG	uc002tns.2	-	15	1781_1782	c.1397_1398insCGGG	c.(1396-1398)ggtfs	p.G466fs	BIN1_uc010yzf.2_Intron|BIN1_uc002tnt.2_Intron|BIN1_uc010yzg.2_Frame_Shift_Ins_p.G343fs|BIN1_uc002tnu.2_Intron|BIN1_uc002tnv.2_Frame_Shift_Ins_p.G423fs|BIN1_uc002tnw.2_Frame_Shift_Ins_p.G370fs|BIN1_uc002tnx.2_Frame_Shift_Ins_p.G327fs|BIN1_uc002tny.2_Frame_Shift_Ins_p.G379fs|BIN1_uc002tnz.2_Frame_Shift_Ins_p.G391fs|BIN1_uc002toa.2_Frame_Shift_Ins_p.G355fs|BIN1_uc002tob.2_Frame_Shift_Ins_p.G312fs|BIN1_uc002toc.2_Frame_Shift_Ins_p.G348fs	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	466					cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTTGGGTCCCACCCGCCACCTC	0.639													---	308	---	---	17	---					
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	-	-	rs72561774		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:14219966_14219968delCCT	uc011ave.2	-	1	207	c.103_splice	c.e1+1	p.D35_splice	XPC_uc011avf.2_Splice_Site|XPC_uc011avg.2_Splice_Site_p.D35_splice|LSM3_uc003byn.3_5'Flank	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	35	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				---	222	---	---	13	---					
CCKAR	886	broad.mit.edu	37	4	26483672	26483674	+	In_Frame_Del	DEL	CTG	-	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:26483672_26483674delCTG	uc003gse.1	-	4	1026_1028	c.873_875delCAG	c.(871-876)agcagg>agg	p.S291del		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	291					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GCGGTTGGCCCTGCTGCTGCTGC	0.606													---	737	---	---	9	---					
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:41648508_41648509delGA	uc003gvz.4	+	16	2835_2836	c.2418_2419delGA	c.(2416-2421)cggagafs	p.R806fs	LIMCH1_uc003gwe.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvu.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvv.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvw.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvx.4_Frame_Shift_Del_p.R409fs|LIMCH1_uc003gvy.4_Frame_Shift_Del_p.R250fs|LIMCH1_uc003gwa.4_Frame_Shift_Del_p.R262fs|LIMCH1_uc011byu.2_Frame_Shift_Del_p.R255fs|LIMCH1_uc003gwc.4_Frame_Shift_Del_p.R267fs|LIMCH1_uc003gwd.4_Frame_Shift_Del_p.R255fs|LIMCH1_uc011byv.2_Frame_Shift_Del_p.R172fs	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	421	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465													---	627	---	---	7	---					
FRG1	2483	broad.mit.edu	37	4	190881950	190881952	+	In_Frame_Del	DEL	AGA	-	-	rs56257823		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:190881950_190881952delAGA	uc003izs.3	+	6	776_778	c.585_587delAGA	c.(583-588)ccagaa>cca	p.E197del		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	197					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ATGACATTCCAGAAGAAGACAAA	0.340													---	227	---	---	8	---					
CD14	929	broad.mit.edu	37	5	140012532	140012534	+	In_Frame_Del	DEL	GCA	-	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:140012532_140012534delGCA	uc003lgi.2	-	1	414_416	c.35_37delTGC	c.(34-39)ctgccg>ccg	p.L12del	CD14_uc003lgj.2_In_Frame_Del_p.L12del|CD14_uc021yej.1_In_Frame_Del_p.L12del|CD14_uc021yek.1_In_Frame_Del_p.L12del|CD14_uc021yel.1_5'UTR	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	12					Toll signaling pathway|apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	p.P13S(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACCAGCGGCAGCAGCAGCAG	0.635													---	222	---	---	7	---					
DAXX	1616	broad.mit.edu	37	6	33287898	33287900	+	In_Frame_Del	DEL	TCC	-	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:33287898_33287900delTCC	uc003oec.3	-	4	1557_1559	c.1353_1355delGGA	c.(1351-1356)gaggaa>gaa	p.451_452EE>E	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_In_Frame_Del_p.451_452EE>E|DAXX_uc021ywo.1_In_Frame_Del_p.451_452EE>E|DAXX_uc011dre.2_In_Frame_Del_p.463_464EE>E|DAXX_uc003oed.3_In_Frame_Del_p.451_452EE>E|DAXX_uc011drd.2_In_Frame_Del_p.376_377EE>E	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	451	Asp/Glu-rich (acidic).|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	p.E451E(4)		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						ctcttcttcttcctcctcctcct	0.552			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								---	284	---	---	7	---					
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:6012690delT	uc003zjr.3	-	0	2951	c.2918delA	c.(2917-2919)aatfs	p.N973fs	RANBP6_uc011lmf.2_Frame_Shift_Del_p.N621fs|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	973					protein transport	cytoplasm|nucleus	binding	p.N973fs*12(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358													---	463	---	---	7	---					
ZFP37	7539	broad.mit.edu	37	9	115818910	115818912	+	In_Frame_Del	DEL	CTC	-	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:115818910_115818912delCTC	uc011lwz.1	-	0	85_87	c.57_59delGAG	c.(55-60)aggaga>aga	p.19_20RR>R	ZFP37_uc004bgm.1_In_Frame_Del_p.19_20RR>R|ZFP37_uc011lxa.1_In_Frame_Del_p.19_20RR>R	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	19						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R20K(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTCCGCACTTCTCCTCCGGTCCA	0.665													---	831	---	---	82	---					
ATM	472	broad.mit.edu	37	11	108141784	108141791	+	Splice_Site	DEL	ATCTTAGT	-	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:108141784_108141791delATCTTAGT	uc001pkb.1	+	19	3224	c.2839_splice	c.e19-1	p.Y947_splice	ATM_uc009yxr.1_Splice_Site_p.Y947_splice|ATM_uc009yxs.1_Intron	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	947					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCCTCCTACCATCTTAGTATCTAATGCT	0.389			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			---	203	---	---	23	---					
IFT46	56912	broad.mit.edu	37	11	118427683	118427685	+	In_Frame_Del	DEL	ATC	-	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:118427683_118427685delATC	uc001pto.2	-	4	693_695	c.274_276delGAT	c.(274-276)gatdel	p.D92del	IFT46_uc001ptp.2_In_Frame_Del_p.D41del	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	Homo sapiens intraflagellar transport 46 homolog (Chlamydomonas) (IFT46), transcript variant 1, mRNA.	41					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478													---	583	---	---	7	---					
ASIC1	41	broad.mit.edu	37	12	50452565	50452567	+	In_Frame_Del	DEL	GAG	-	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:50452565_50452567delGAG	uc001rvv.3	+	1	245_247	c.16_18delGAG	c.(16-18)gagdel	p.E9del	ASIC1_uc001rvw.3_In_Frame_Del_p.E9del|ASIC1_uc009zln.3_5'UTR|ASIC1_uc009zlo.3_In_Frame_Del_p.E9del	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	9					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACTGAAGGCCGAGGAGGAGGAGG	0.616													---	610	---	---	7	---					
KCNH5	27133	broad.mit.edu	37	14	63174626	63174626	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr14:63174626delT	uc001xfx.3	-	10	2618	c.2567delA	c.(2566-2568)aacfs	p.N856fs	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	856					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)		TCTTAGTGGGTTTTTGGTCAC	0.463													---	744	---	---	8	---					
DDX24	57062	broad.mit.edu	37	14	94517596	94517598	+	In_Frame_Del	DEL	TCT	-	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr14:94517596_94517598delTCT	uc001ycj.3	-	8	2618_2620	c.2519_2521delAGA	c.(2518-2523)aagaca>aca	p.K840del	DDX24_uc010twq.2_In_Frame_Del_p.K797del|DDX24_uc010twr.2_In_Frame_Del_p.K590del	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	840	Poly-Lys.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGCTTCTTTGTCTTCTTCTTCTT	0.512											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	468	---	---	7	---					
AK021876	0	broad.mit.edu	37	16	67295830	67295831	+	Splice_Site	INS	-	GTGTGT	GTGTGT	rs72211798	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:67295830_67295831insGTGTGT	uc002esn.1	+	1		c.1_splice	c.e1-1		SLC9A5_uc002esm.3_Intron|SLC9A5_uc010cee.3_Intron|SLC9A5_uc010vji.2_Intron					Homo sapiens cDNA FLJ11814 fis, clone HEMBA1006381.																		GATTTGGTGAGgtgtgtgtgtg	0.386													---	5	---	---	3	---					
ITSN1	6453	broad.mit.edu	37	21	35147045	35147046	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:35147045_35147046insA	uc002yta.1	+	12	1586_1587	c.1318_1319insA	c.(1318-1320)gaafs	p.E440fs	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Frame_Shift_Ins_p.E324fs|ITSN1_uc002ysy.3_Frame_Shift_Ins_p.E440fs|ITSN1_uc002ysx.3_Frame_Shift_Ins_p.E403fs|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Frame_Shift_Ins_p.E440fs|ITSN1_uc010gmg.3_Frame_Shift_Ins_p.E403fs|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Frame_Shift_Ins_p.E440fs|ITSN1_uc010gmi.3_Frame_Shift_Ins_p.E403fs|ITSN1_uc002ytb.1_Frame_Shift_Ins_p.E440fs|ITSN1_uc002ytc.1_Frame_Shift_Ins_p.E440fs|ITSN1_uc010gmk.3_Frame_Shift_Ins_p.E403fs|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Frame_Shift_Ins_p.E440fs|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Frame_Shift_Ins_p.E374fs|ITSN1_uc021wip.1_Frame_Shift_Ins_p.E334fs	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	440	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGCAAAACGGGAACTTGAAAGG	0.376													---	216	---	---	12	---					
