Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KLHL4	56062	broad.mit.edu	37	X	86919798	86919798	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:86919798G>C	uc004efa.2	+	9	2142	c.1960G>C	c.(1960-1962)Gca>Cca	p.A654P	KLHL4_uc004efb.2_Missense_Mutation_p.A654P	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	654						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTCAACTGTGGCACCTCTGAG	0.418000													10	7					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72244228	72244228	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr15:72244228T>C	uc002atl.4	-	14	2665	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G	MYO9A_uc010biq.3_Missense_Mutation_p.D326G|MYO9A_uc002atn.1_Missense_Mutation_p.D712G	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	731					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGCGCTGTATCATCATGTCC	0.378000													20	37					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30688488	30688488	+	Missense_Mutation	SNP	T	T	C	rs61730760	byFrequency	TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr22:30688488T>C	uc010gvu.3	-	8	1509	c.1424A>G	c.(1423-1425)cAt>cGt	p.H475R	TBC1D10A_uc003ahd.3_5'Flank|TBC1D10A_uc003ahf.3_Intron|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_5'Flank|TBC1D10A_uc010gvs.2_5'Flank|TBC1D10A_uc003ahk.4_Missense_Mutation_p.H468R	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	468						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGGGGGCACATGCTGTGGGGG	0.637000													10	139					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136221497	136221497	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr3:136221497C>G	uc003era.1	-	7	1093	c.801G>C	c.(799-801)ttG>ttC	p.L267F	STAG1_uc003erb.1_Missense_Mutation_p.L267F|STAG1_uc003erc.1_Missense_Mutation_p.L41F|STAG1_uc010hua.1_Missense_Mutation_p.L130F	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	267					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTAGTAACTCCAACCTTTCAT	0.348000													9	49					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885841	180885841	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:180885841C>T	uc001gok.2	+	1	669	c.602C>T	c.(601-603)cCg>cTg	p.P201L		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	201										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GACAGAGGTCCGCTGCTGGGG	0.612000													6	105					0	0	1	0	0
TATDN3	128387	broad.mit.edu	37	1	212985626	212985626	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:212985626A>G	uc001hjo.2	+	8	731	c.637A>G	c.(637-639)Ata>Gta	p.I213V	TATDN3_uc010ptj.1_Missense_Mutation_p.I220V|TATDN3_uc010ptk.1_Missense_Mutation_p.I220V|TATDN3_uc001hjp.2_Missense_Mutation_p.I212V|TATDN3_uc010ptl.1_Missense_Mutation_p.I192V|TATDN3_uc010ptm.1_Missense_Mutation_p.I160V	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN	Homo sapiens TatD DNase domain containing 3 (TATDN3), transcript variant 1, mRNA.	213						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		TTTAACTTCTATATGCTTAGA	0.294000													11	21					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43372351	43372351	+	Missense_Mutation	SNP	C	C	T	rs150536125		TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr19:43372351C>T	uc002ovd.1	-	4	1283	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Missense_Mutation_p.R289H|PSG3_uc002ova.2_Missense_Mutation_p.R289H|PSG3_uc002ouz.2_Missense_Mutation_p.R382H|PSG3_uc002ovb.3_Missense_Mutation_p.R382H	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	382	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGTAATATGGCGGATAAAGAG	0.463000													64	103					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60456420	60456420	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:60456420G>C	uc001czs.2	-	11	1674	c.1566C>G	c.(1564-1566)gaC>gaG	p.D522E	C1orf87_uc001czr.1_Missense_Mutation_p.D114E	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	522							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAAGGCCTGGTCGATTTTCT	0.488000													50	158					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052835	90052835	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr5:90052835C>T	uc003kju.3	+	56	11893	c.11797C>T	c.(11797-11799)Ccc>Tcc	p.P3933S	GPR98_uc003kjt.3_Missense_Mutation_p.P1639S|GPR98_uc003kjv.3_Missense_Mutation_p.P1533S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3933					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGTGCCTCCACCCTTGAACGT	0.443000													6	35					0	0	1	0	0
ZWINT	11130	broad.mit.edu	37	10	58118485	58118485	+	Splice_Site	SNP	C	C	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:58118485C>A	uc001jjx.1	-	7	661	c.624_splice	c.e7-1	p.R208_splice	ZWINT_uc001jjy.1_Intron|ZWINT_uc001jka.1_Splice_Site_p.R208_splice|ZWINT_uc009xoy.1_Splice_Site	NM_007057	NP_127490	O95229	ZWINT_HUMAN	Homo sapiens ZW10 interactor (ZWINT), transcript variant 1, mRNA.	208					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						AGGTCTGATACCTACAAAGAG	0.517000													15	25					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73836336	73836336	+	Silent	SNP	G	G	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr17:73836336G>A	uc002jpp.3	-	9	1208	c.828C>T	c.(826-828)tgC>tgT	p.C276C	UNC13D_uc010wsk.1_Silent_p.C276C|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Silent_p.C73C	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	276	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTGGAGGTGGCACTGGCCTC	0.672000									Familial Hemophagocytic Lymphohistiocytosis				11	35					0	0	1	0	0
SMOX	54498	broad.mit.edu	37	20	4155731	4155731	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr20:4155731G>T	uc002wkp.2	+	1	230	c.29G>T	c.(28-30)aGt>aTt	p.S10I	SMOX_uc010zqo.1_Missense_Mutation_p.S10I|SMOX_uc002wkk.1_Missense_Mutation_p.S10I|SMOX_uc002wkl.1_Missense_Mutation_p.S10I|SMOX_uc002wkm.1_Missense_Mutation_p.S10I|SMOX_uc002wkn.1_Missense_Mutation_p.S10I|SMOX_uc002wko.1_Missense_Mutation_p.S10I	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	10					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGTGGTGACAGTGCGGATGAC	0.607000													38	134					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67632038	67632038	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr2:67632038A>C	uc002sdz.1	+	4	2363	c.2224A>C	c.(2224-2226)Atc>Ctc	p.I742L		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	742						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GTATTCTAAGATCTCAAACTG	0.348000													4	32					0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115917401	115917401	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:115917401A>G	uc001lbb.1	-	2	1323	c.671T>C	c.(670-672)gTa>gCa	p.V224A	C10orf118_uc009xye.1_Non-coding_Transcript|C10orf118_uc001lbc.1_Missense_Mutation_p.V224A	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	Homo sapiens chromosome 10 open reading frame 118 (C10orf118), mRNA.	224										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ACAAATGTCTACGAAGAGCTC	0.284000													7	10					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3778981	3778981	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr16:3778981G>C	uc002cvv.3	-	30	6271	c.6067C>G	c.(6067-6069)Cag>Gag	p.Q2023E	CREBBP_uc002cvw.3_Missense_Mutation_p.Q1985E	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2023					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGGGCGCCTGCTGCCACTGC	0.721000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	5					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70162938	70162938	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr16:70162938C>A	uc002eyf.1	+	5	1477	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.L74M|PDPR_uc002eyg.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	174					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CGTGCACGACCTGGTGGGGGC	0.552000													37	241					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594258	123594258	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr7:123594258C>A	uc003vle.3	+	2	1073	c.634C>A	c.(634-636)Cca>Aca	p.P212T	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.P212T|SPAM1_uc022aks.1_Missense_Mutation_p.P212T|SPAM1_uc003vlf.4_Missense_Mutation_p.P212T|SPAM1_uc010lku.3_Missense_Mutation_p.P212T	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	212					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R211R(1)|p.R211W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ATTACTTCGGCCAAATCACTT	0.378000													4	26					0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62904819	62904819	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr20:62904819C>T	uc002yil.4	+	5	1152	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	PCMTD2_uc002yim.4_Missense_Mutation_p.R291W	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	318						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.R318L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAAGAGGAACGGAGGGAAGA	0.532000													33	54					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109377557	109377557	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:109377557G>A	uc001dwa.3	-	7	1927	c.1658C>T	c.(1657-1659)cCg>cTg	p.P553L	AKNAD1_uc010ovb.2_Missense_Mutation_p.P260L|AKNAD1_uc001dwb.3_Intron	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	553								p.P553L(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCACGTCTGCGGGGCCAGCTC	0.657000													8	31					0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16142274	16142274	+	Silent	SNP	T	T	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:16142274T>C	uc004cxj.3	+	0	851	c.198T>C	c.(196-198)tgT>tgC	p.C66C		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	66					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					AGATCTTCTGTACAGTCAAGT	0.493000											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	57					0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499891	66499891	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr9:66499891T>C	uc004aee.1	+	0	701	c.701T>C	c.(700-702)aTg>aCg	p.M234T	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		ACCATCGCCATGTACATGAAG	0.572000													3	22					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70462164	70462164	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:70462164A>C	uc004dzh.2	-	22	3837	c.3658T>G	c.(3658-3660)Ttt>Gtt	p.F1220V	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.F1220V|ZMYM3_uc004dzj.2_Missense_Mutation_p.F1208V	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	1220					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGCAGCCCAAAAAACTTAGTG	0.562000													11	6					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													5	36					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45433155	45433155	+	Silent	SNP	G	G	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr15:45433155G>A	uc001zus.1	+	13	1798	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G	DUOX1_uc001zut.1_Silent_p.G484G|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	484	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCTCCCTGGGGGACTCCTGG	0.572000													33	50					0	0	1	0	0
AK097701	0	broad.mit.edu	37	4	120299375	120299375	+	RNA	SNP	A	A	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr4:120299375A>T	uc003icx.1	+	0		c.89A>T								Homo sapiens cDNA FLJ40382 fis, clone TESTI2035775.																		CAAGGCCAACACCTATGCAGG	0.448000													8	21					0	0	1	0	0
OR11H1	81061	broad.mit.edu	37	22	16449624	16449624	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr22:16449624C>T	uc011agd.2	-	0	181	c.181G>A	c.(181-183)Gct>Act	p.A61T		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 1 (OR11H1), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		AGGACAAAAGCAATGGCTCCA	0.428000													15	65					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr2:95522727C>A	uc010fhp.3	-	0		c.94G>T						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.R64L(2)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CTGCTTGTCCCGGGCGTCCAG	0.731000													5	43					0	0	1	0	0
IFIT2	3433	broad.mit.edu	37	10	91066539	91066539	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:91066539T>A	uc009xts.3	+	1	1001	c.826T>A	c.(826-828)Tac>Aac	p.Y276N	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.	276					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	p.E275G(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GGCTTTAGAATACATACCAAA	0.418000													12	45					0	0	1	0	0
C11orf57	55216	broad.mit.edu	37	11	111948994	111948994	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr11:111948994A>G	uc001pmw.4	+	2	248	c.125A>G	c.(124-126)gAt>gGt	p.D42G	C11orf57_uc001pmu.2_Missense_Mutation_p.D42G|C11orf57_uc001pmr.4_Missense_Mutation_p.D42G|C11orf57_uc001pmt.4_Missense_Mutation_p.D42G|C11orf57_uc001pmv.4_Missense_Mutation_p.D42G|C11orf57_uc001pms.4_Missense_Mutation_p.D13G	NM_001082969	NP_060665	Q6ZUT1	CK057_HUMAN	Homo sapiens chromosome 11 open reading frame 57 (C11orf57), transcript variant 2, mRNA.	42										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		CAGATGGAAGATGCTTACCGG	0.338000													6	16					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432441	140432441	+	Silent	SNP	A	A	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr5:140432441A>C	uc003lik.1	+	0	1463	c.1386A>C	c.(1384-1386)cgA>cgC	p.R462R		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	462	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACTGTTCGAGAAAACAACA	0.418000													17	31					0	0	1	0	0
PSMC6	5706	broad.mit.edu	37	14	53173992	53173992	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr14:53173992C>T	uc010tqx.2	+	0	97	c.97C>T	c.(97-99)Cac>Tac	p.H33Y	PSMC6_uc010tqv.2_Missense_Mutation_p.H33Y|PSMC6_uc010tqw.2_Silent_p.N25N	NM_002806	NP_002797	P62333	PRS10_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 6 (PSMC6), mRNA.	19					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GTTGCTTGAACACAAGGAGAT	0.532000													16	29					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83016314	83016314	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr7:83016314C>G	uc003uhy.2	-	14	2341	c.1720G>C	c.(1720-1722)Gga>Cga	p.G574R	SEMA3E_uc022agy.1_Missense_Mutation_p.G514R	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	574					axon guidance	extracellular space|membrane	receptor activity	p.G574R(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AACTGTTGTCCAAAGCACTGC	0.358000													7	9					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542611	55542611	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr8:55542611C>G	uc003xsd.1	+	3	6317	c.6169C>G	c.(6169-6171)Cag>Gag	p.Q2057E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2057					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.G2056S(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTCAGCGGTCAGACAAATGA	0.348000													10	34					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	804	804	+	RNA	SNP	A	A	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrGL000237.1:804A>T	uc011mgu.1	-	1		c.414T>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		CCACCCTCCAAGGATCCTACC	0.592000													3	4					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478680	14478680	+	RNA	SNP	C	C	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr18:14478680C>G	uc010xai.2	-	2		c.884G>C								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		CAGATATAAACAGATGAAGTC	0.413000													8	10					0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	88540	88540	+	Silent	SNP	A	A	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrGL000209.1:88540A>G	uc002quk.1	+	2	355	c.300A>G	c.(298-300)ccA>ccG	p.P100P	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	100							receptor activity										GTTCACACCCACGCTCCCCCA	0.572000													3	18					0	0	1	0	0
LRRC24	441381	broad.mit.edu	37	8	145747927	145747927	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr8:145747927C>A	uc003zdm.3	-	4	1606	c.1474G>T	c.(1474-1476)Ggc>Tgc	p.G492C	LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.	492						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGTTCCGGGCCGCAGTCAGCG	0.751000													2	2					0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29857360	29857360	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	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													3	24					0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	88561	88561	+	Silent	SNP	A	A	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrGL000209.1:88561A>G	uc002quk.1	+	2	376	c.321A>G	c.(319-321)tcA>tcG	p.S107S	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	107							receptor activity										TTGAGTGGTCAGCACCCAGCA	0.587000													3	15					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79713461	79713461	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr6:79713461T>C	uc011dyp.2	-	15	1865	c.1639A>G	c.(1639-1641)Agc>Ggc	p.S547G	PHIP_uc003pir.3_Missense_Mutation_p.S547G	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	547					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCATATTTGCTACTGGACCCA	0.383000													6	14					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647629	38647629	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr3:38647629G>T	uc021wvo.1	-	8	1203	c.1151C>A	c.(1150-1152)tCc>tAc	p.S384Y	SCN5A_uc021wvk.1_Missense_Mutation_p.S384Y|SCN5A_uc021wvl.1_Missense_Mutation_p.S384Y|SCN5A_uc021wvm.1_Missense_Mutation_p.S384Y|SCN5A_uc021wvn.1_Missense_Mutation_p.S384Y|SCN5A_uc021wvp.1_Missense_Mutation_p.S384Y|SCN5A_uc021wvq.1_Missense_Mutation_p.S384Y|SCN5A_uc021wvr.1_Missense_Mutation_p.S384Y|SCN5A_uc021wvs.1_Missense_Mutation_p.S384Y|SCN5A_uc021wvt.1_Missense_Mutation_p.S384Y|SCN5A_uc021wvu.1_Missense_Mutation_p.S384Y|SCN5A_uc021wvv.1_Missense_Mutation_p.S384Y|SCN5A_uc021wvj.1_Missense_Mutation_p.S250Y|SCN5A_uc021wvi.1_Missense_Mutation_p.S250Y|SCN5A_uc021wvw.1_5'UTR	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	384					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTCCCTGCGGACCTGAGGGT	0.572000													7	33					0	0	1	0	0
FNBP1L	54874	broad.mit.edu	37	1	94000419	94000419	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:94000419delT	uc010otk.2	+	8	1095	c.944delT	c.(943-945)gtafs	p.V315fs	FNBP1L_uc001dpv.3_Frame_Shift_Del_p.V315fs|FNBP1L_uc001dpw.3_Frame_Shift_Del_p.V315fs	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	315	Induction of membrane tubulation (By similarity).|Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AAAACCACAGTAGGAAAGGCC	0.388													2	4	---	---	---	---					
UBQLN4	56893	broad.mit.edu	37	1	156011291	156011292	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:156011291_156011292insA	uc001fna.3	-	9	1661_1662	c.1637_1638insT	c.(1636-1638)ggafs	p.G546fs	UBQLN4_uc010pgx.2_Frame_Shift_Ins_p.G526fs	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	546						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					AGTTTCCACTTCCAGCCAAAAG	0.569													12	29	---	---	---	---					
SLC4A3	6508	broad.mit.edu	37	2	220498620	220498621	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr2:220498620_220498621delGG	uc002vmo.4	+	10	1770_1771	c.1561_1562delGG	c.(1561-1563)gggfs	p.G521fs	SLC4A3_uc002vmp.4_Frame_Shift_Del_p.G494fs|SLC4A3_uc010fwm.3_Frame_Shift_Del_p.G44fs|SLC4A3_uc010fwn.1_Frame_Shift_Del_p.G3fs	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	494					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACATGCCTGGGGGAGATGGT	0.668													2	4	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89711886	89711887	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:89711886_89711887insC	uc001kfb.3	+	5	1536_1537	c.504_505insC	c.(502-507)attcccfs	p.I168fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	168	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.T167A(5)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.I168fs*15(2)|p.Y27_N212>Y(2)|p.P169H(1)|p.T167I(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.I168F(1)|p.T167S(1)|p.G165_K342del(1)|p.T167P(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAGTAACTATTCCCAGTCAGAG	0.361		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			13	20	---	---	---	---					
OASL	8638	broad.mit.edu	37	12	121476763	121476764	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr12:121476763_121476764insA	uc001tzj.1	-	0	17_18	c.11_12insT	c.(10-12)atgfs	p.M4fs	OASL_uc001tzk.1_Frame_Shift_Ins_p.M4fs	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	4					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACAGTTCCTGCATCAGTGCCAT	0.589													11	28	---	---	---	---					
