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
DCHS1	8642	broad.mit.edu	37	11	6643302	6643302	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:6643302G>A	ENST00000299441.3	-	21	10016	c.9605C>T	c.(9604-9606)cCa>cTa	p.P3202L	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3202					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGAGGGGTGGTGGGTCGAT	0.632000													4	18					0	0	0.00024832	0	0
SCML2	10389	broad.mit.edu	37	X	18276320	18276320	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:18276320G>A	ENST00000251900.4	-	10	1276	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	SCML2_ENST00000398048.3_Missense_Mutation_p.P109S	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	373					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					ATTCTCTTGGGATCCAGATGA	0.478000													21	44					0	0	0.000375601	0	0
PLG	5340	broad.mit.edu	37	6	161123349	161123349	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:161123349G>A	ENST00000308192.9	+	1	76	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	PLG_ENST00000366924.2_Missense_Mutation_p.E5K|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	5					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGAACATAAGGAAGTGGTTCT	0.368000													38	17					0	0	0.000147903	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840402	27840402	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:27840402C>T	ENST00000356790.2	+	3	1224	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	327										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AGCCAAGGCTCGCGTTAGTGC	0.483000													11	16					0	0	0.000219431	0	0
ATMIN	23300	broad.mit.edu	37	16	81077159	81077159	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:81077159C>T	ENST00000566488.1	+	3	1551	c.588C>T	c.(586-588)atC>atT	p.I196I	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Silent_p.I352I|ATMIN_ENST00000564241.1_Silent_p.I196I			O43313	ATMIN_HUMAN	ATM interactor	352					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GAACCCTGATCCTCGGCCTAG	0.512000													21	28					0	0	0.000229342	0	0
FZD8	8325	broad.mit.edu	37	10	35928727	35928727	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:35928727G>A	ENST00000374694.1	-	1	1635	c.1631C>T	c.(1630-1632)gCc>gTc	p.A544V		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	544					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CACCACCGCGGCGGGCACGGT	0.677000													4	5					0	0	0.000602214	0	0
UBR5	51366	broad.mit.edu	37	8	103357695	103357695	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:103357695G>A	ENST00000520539.1	-	8	1421	c.815C>T	c.(814-816)tCt>tTt	p.S272F	UBR5_ENST00000521922.1_Missense_Mutation_p.S272F|UBR5_ENST00000220959.4_Missense_Mutation_p.S272F	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	272					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATGTCTTCAGAAAACATGGC	0.373000													16	2					0	0	7.07596e-05	0	0
TDRD1	56165	broad.mit.edu	37	10	115963932	115963932	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:115963932G>A	ENST00000251864.2	+	9	1235	c.1082G>A	c.(1081-1083)aGa>aAa	p.R361K	TDRD1_ENST00000369282.1_Missense_Mutation_p.R361K|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.R361K|TDRD1_ENST00000369280.1_Missense_Mutation_p.R361K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	361	Tudor 1.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCATTAAACAGAATTTACCAC	0.353000													16	14					0	0	0.000308642	0	0
CD1B	910	broad.mit.edu	37	1	158298032	158298032	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:158298032G>A	ENST00000368168.3	-	6	1103	c.996C>T	c.(994-996)atC>atT	p.I332I		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	332					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGGCTCATGGGATATTCTGAT	0.348000													8	86					0	0	0.000274275	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309722	22309722	+	RNA	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:22309722C>T	ENST00000390433.1	+	0	106																											CTTCAATGTTCCAGAGGGAGC	0.488000													7	9					0	0	8.12818e-05	0	0
C1orf194	127003	broad.mit.edu	37	1	109650609	109650609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:109650609C>T	ENST00000369949.4	-	2	275	c.96G>A	c.(94-96)tgG>tgA	p.W32*	C1orf194_ENST00000369948.3_Nonsense_Mutation_p.W44*|C1orf194_ENST00000369945.3_Intron	NM_001122961.1	NP_001116433.1	Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	44										large_intestine(2)|lung(2)|ovary(2)	6						TGAGCCGACTCCAGGGTTCCT	0.473000													101	6					0	0	0.000147903	0	0
RPH3A	22895	broad.mit.edu	37	12	113321127	113321127	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:113321127G>A	ENST00000389385.4	+	16	1853	c.1356G>A	c.(1354-1356)cgG>cgA	p.R452R	RPH3A_ENST00000420983.2_Silent_p.R452R|RPH3A_ENST00000551052.1_Silent_p.R448R|RPH3A_ENST00000548866.1_Silent_p.R403R|RPH3A_ENST00000543106.2_Silent_p.R452R|RPH3A_ENST00000447659.2_Silent_p.R403R|RPH3A_ENST00000415485.3_Silent_p.R452R|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	452	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AAACTCTGCGGAATACCCGGA	0.562000													10	20					0	0	3.86212e-05	0	0
IGHV4-39	28394	broad.mit.edu	37	14	106877770	106877770	+	RNA	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:106877770C>T	ENST00000390619.2	-	0	273																											ACTCCCAATCCACTCCAGCCC	0.562000													17	42					0	0	0.000422831	0	0
SEPP1	6414	broad.mit.edu	37	5	42808366	42808366	+	Silent	SNP	T	T	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:42808366T>C	ENST00000514985.1	-	2	346	c.90A>G	c.(88-90)caA>caG	p.Q30Q	SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_Silent_p.Q30Q|SEPP1_ENST00000506577.1_Silent_p.Q30Q|SEPP1_ENST00000511224.1_Silent_p.Q30Q	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	30					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						AGGCTGGGGGTTGCTTACATA	0.532000													32	4					0	0	0.000491102	0	0
C17orf66	256957	broad.mit.edu	37	17	34190533	34190533	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:34190533C>T	ENST00000311880.2	-	7	746	c.598G>A	c.(598-600)Gag>Aag	p.E200K	C17orf66_ENST00000592980.1_Missense_Mutation_p.E160K	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	200							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CGGTAGGCCTCGTACTTCACT	0.488000													13	45					0	0	0.000308642	0	0
NOC2L	26155	broad.mit.edu	37	1	892575	892575	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:892575G>A	ENST00000327044.6	-	3	307	c.258C>T	c.(256-258)ttC>ttT	p.F86F	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	86						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCTCCTGCAGGAACTTGTAGA	0.587000													65	4					0	0	0.000147903	0	0
TGM7	116179	broad.mit.edu	37	15	43571423	43571423	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:43571423C>T	ENST00000452443.2	-	11	1735	c.1731G>A	c.(1729-1731)acG>acA	p.T577T		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	577					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GCTTTTCGTCCGTTAGCTTGT	0.527000													13	16					0	0	0.000151284	0	0
SEMA4C	54910	broad.mit.edu	37	2	97529814	97529814	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:97529814G>A	ENST00000305476.5	-	11	1311	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	393	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCTTCTTGACGAAGTTGAGGA	0.647000													11	14					0	0	0.00010058	0	0
PAGE2	203569	broad.mit.edu	37	X	55116953	55116953	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:55116953G>A	ENST00000374968.4	+	3	207	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	PAGE2_ENST00000374965.1_Missense_Mutation_p.E35K	NM_207339.2	NP_997222.1			P antigen family, member 2 (prostate associated)											endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						GCCCACTGAGGAAAAACGTCA	0.418000													18	14					0	0	0.000229342	0	0
FSHR	2492	broad.mit.edu	37	2	49381554	49381554	+	Translation_Start_Site	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:49381554C>T	ENST00000406846.2	-	1	122	c.3G>A	c.(1-3)atG>atA	p.M1I	FSHR_ENST00000346173.3_Start_Codon_SNP_p.M1I|FSHR_ENST00000304421.4_Start_Codon_SNP_p.M1I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	1					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGAGCAGGGCCATAATTATGC	0.483000									Gonadal Dysgenesis, 46 XX				6	6					0	0	0.000274275	0	0
ROBO4	54538	broad.mit.edu	37	11	124766432	124766432	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:124766432C>T	ENST00000306534.3	-	3	1020	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.A34T	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	179	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGCTGGAGGGCCAGGGGTTTC	0.632000													44	8					0	0	0.000147903	0	0
ABCA3	21	broad.mit.edu	37	16	2329039	2329039	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:2329039C>T	ENST00000301732.5	-	29	5152	c.4452G>A	c.(4450-4452)cgG>cgA	p.R1484R	ABCA3_ENST00000382381.3_Silent_p.R1426R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1484	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CAGGGATGCCCCGGAGCCGAG	0.652000													14	24					0	0	0.000422831	0	0
OR11L1	391189	broad.mit.edu	37	1	248004278	248004278	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:248004278C>T	ENST00000355784.2	-	1	976	c.921G>A	c.(919-921)agG>agA	p.R307R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TACCACATTTCCTTCTCATGA	0.383000													55	104					0	0	0.000147903	0	0
NCOA3	8202	broad.mit.edu	37	20	46262785	46262785	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr20:46262785C>T	ENST00000341724.6	+	10	1249	c.988C>T	c.(988-990)Cca>Tca	p.P330S	NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000371998.3_Intron|NCOA3_ENST00000371997.3_Missense_Mutation_p.P330S			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	321					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GATATTTTCCCCAACAGCTTA	0.403000													61	97					0	0	0.000147903	0	0
PCDH15	65217	broad.mit.edu	37	10	55568979	55568979	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:55568979C>T	ENST00000395445.1	-	36	5225	c.4831G>A	c.(4831-4833)Gaa>Aaa	p.E1611K	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.E545K|PCDH15_ENST00000395442.1_Missense_Mutation_p.E476K|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.E807K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GACTCTTCTTCACTGTATTCA	0.453000										HNSCC(58;0.16)			12	22					0	0	0.000151284	0	0
GRIA1	2890	broad.mit.edu	37	5	153190584	153190584	+	Splice_Site	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:153190584G>A	ENST00000285900.5	+	16	2863		c.e16-1		GRIA1_ENST00000448073.4_Splice_Site|GRIA1_ENST00000518142.1_Splice_Site|GRIA1_ENST00000340592.5_Splice_Site|GRIA1_ENST00000521843.2_Splice_Site|GRIA1_ENST00000518783.1_Splice_Site	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1						synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCCTGAAAAGGGTTTTTGTT	0.557000													34	8					0	0	0.00058488	0	0
TF	7018	broad.mit.edu	37	3	133494371	133494371	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:133494371G>A	ENST00000402696.3	+	15	2267	c.1782G>A	c.(1780-1782)gcG>gcA	p.A594A	TF_ENST00000264998.3_Silent_p.A467A	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	594	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AGGAGTATGCGAACTGCCACC	0.498000													39	61					0	0	0.000589545	0	0
KIF21B	23046	broad.mit.edu	37	1	200973950	200973950	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:200973950G>A	ENST00000332129.2	-	6	1160	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	KIF21B_ENST00000360529.5_Missense_Mutation_p.R282W|KIF21B_ENST00000461742.2_Missense_Mutation_p.R282W|KIF21B_ENST00000422435.2_Missense_Mutation_p.R282W	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	282	Kinesin-motor.				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						GCCCCTGTCCGCTTCAGCCGC	0.602000													30	26					0	0	0.000279167	0	0
PCLO	27445	broad.mit.edu	37	7	82763974	82763974	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:82763974C>T	ENST00000423517.2	-	3	3229	c.2892G>A	c.(2890-2892)atG>atA	p.M964I	PCLO_ENST00000333891.8_Missense_Mutation_p.M964I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	910	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCTTGTTTCATTGGGGCCC	0.507000													7	13					0	0	0.000157383	0	0
CAMKV	79012	broad.mit.edu	37	3	49898722	49898722	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:49898722C>T	ENST00000477224.1	-	6	931	c.453G>A	c.(451-453)ctG>ctA	p.L151L	CAMKV_ENST00000466940.1_Silent_p.L108L|CAMKV_ENST00000467248.1_Silent_p.L76L|CAMKV_ENST00000488336.1_Silent_p.L151L|CAMKV_ENST00000296471.7_Silent_p.L151L|CAMKV_ENST00000463537.1_Silent_p.L151L			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	151	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGTAGTAAACCAGGTTCTCCA	0.547000													16	31					0	0	0.000132079	0	0
MAP7	9053	broad.mit.edu	37	6	136667072	136667072	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:136667072G>A	ENST00000354570.3	-	17	2571	c.2161C>T	c.(2161-2163)Cca>Tca	p.P721S	MAP7_ENST00000432797.2_Missense_Mutation_p.P575S|MAP7_ENST00000438100.2_Missense_Mutation_p.P706S|MAP7_ENST00000544465.1_Missense_Mutation_p.P706S|MAP7_ENST00000454590.1_Missense_Mutation_p.P743S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	721					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GCCAAAATTGGATTCAAAGGA	0.438000													12	3					0	0	0.00010058	0	0
FAM127B	26071	broad.mit.edu	37	X	134186036	134186036	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:134186036C>T	ENST00000370775.2	-	1	169	c.103G>A	c.(103-105)Gga>Aga	p.G35R	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	35										breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					TCGGTATCTCCGTCAAACGTC	0.642000													25	40					0	0	0.000279167	0	0
CORO7	79585	broad.mit.edu	37	16	4414791	4414791	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:4414791G>A	ENST00000251166.4	-	12	1174	c.1029C>T	c.(1027-1029)taC>taT	p.Y343Y	CORO7-PAM16_ENST00000572467.1_Silent_p.Y343Y|CORO7_ENST00000574025.1_Silent_p.Y258Y|CORO7_ENST00000537233.2_Silent_p.Y325Y|CORO7_ENST00000539968.1_Silent_p.Y123Y|CORO7_ENST00000423908.2_Silent_p.Y175Y	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GGGGCACATGGTAGCCGATGG	0.701000													6	6					0	0	3.59834e-05	0	0
KCNT2	343450	broad.mit.edu	37	1	196392194	196392194	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:196392194C>T	ENST00000367433.5	-	12	1272	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.D391N|KCNT2_ENST00000294725.8_Missense_Mutation_p.D391N|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	391						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GATGTCCTATCCACTTCACAA	0.328000													7	3					0	0	0.000157383	0	0
GOLGA1	2800	broad.mit.edu	37	9	127700878	127700878	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:127700878C>T	ENST00000373555.4	-	3	446	c.113G>A	c.(112-114)gGa>gAa	p.G38E		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	38						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGAGTCAGCTCCCATTGAGGC	0.403000													23	29					0	0	0.00047179	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439717	145439717	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:145439717C>A	ENST00000511217.1	+	8	1896	c.1844C>A	c.(1843-1845)cCa>cAa	p.P615Q	SH3RF2_ENST00000359120.4_Missense_Mutation_p.P615Q|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	615							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCCTCTGCCAAAACCGCCC	0.552000													22	43					8.24728e-16	1.4069e-14	9.22233e-05	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144879561	144879561	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:144879561A>G	ENST00000369359.4	-	30	4335	c.4297T>C	c.(4297-4299)Tgt>Cgt	p.C1433R	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1297					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.C1297R(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTCCTCACACTCTGAAAAA	0.502000			T	PDGFRB	MPD								4	86					0	0	0.000442599	0	0
DSE	29940	broad.mit.edu	37	6	116752185	116752185	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:116752185C>T	ENST00000331677.3	+	5	1183	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F	DSE_ENST00000359564.2_Missense_Mutation_p.L247F|DSE_ENST00000452085.3_Missense_Mutation_p.L247F|DSE_ENST00000537543.1_Missense_Mutation_p.L266F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	247					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCTGGTCTTGCTCAGGGAGGT	0.463000													28	5					0	0	0.000227799	0	0
SLC15A2	6565	broad.mit.edu	37	3	121658303	121658303	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:121658303C>T	ENST00000489711.1	+	20	2257	c.1869C>T	c.(1867-1869)gtC>gtT	p.V623V	SLC15A2_ENST00000295605.2_Silent_p.V592V	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	623					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CTGGGGAGGTCATGTTCTCTG	0.428000													20	50					0	0	0.000132079	0	0
USP43	124739	broad.mit.edu	37	17	9615335	9615335	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:9615335C>T	ENST00000570827.2	+	14	2362	c.1288C>T	c.(1288-1290)Cac>Tac	p.H430Y	USP43_ENST00000285199.6_Missense_Mutation_p.H741Y|USP43_ENST00000570475.1_Missense_Mutation_p.H736Y			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	741					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GCTCGGGAGCCACGCTGGCAG	0.632000													6	7					0	0	8.12818e-05	0	0
AHNAK	79026	broad.mit.edu	37	11	62288477	62288477	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:62288477G>T	ENST00000378024.4	-	5	13686	c.13412C>A	c.(13411-13413)cCc>cAc	p.P4471H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4471					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCACCTTGGGACCTTTCAG	0.463000													7	136					0.000442599	0.00710987	0.000442599	1	0
AK2	204	broad.mit.edu	37	1	33478818	33478818	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:33478818G>A	ENST00000373449.2	-	6	725	c.684C>T	c.(682-684)tcC>tcT	p.S228S	AK2_ENST00000491241.1_5'UTR|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000467905.1_Silent_p.S228S|AK2_ENST00000480134.1_3'UTR|AK2_ENST00000354858.6_Silent_p.S228S|AK2_ENST00000548033.1_Silent_p.S186S	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	228					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATGTGGCTTTGGAGAAGGCTG	0.502000													80	12					0	0	0.000147903	0	0
ENOX2	10495	broad.mit.edu	37	X	129804005	129804005	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:129804005G>A	ENST00000338144.3	-	8	1132	c.715C>T	c.(715-717)Cca>Tca	p.P239S	ENOX2_ENST00000394363.1_Missense_Mutation_p.P210S|ENOX2_ENST00000370935.1_Missense_Mutation_p.P210S|ENOX2_ENST00000370927.1_Missense_Mutation_p.P239S	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	239					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GGTGGAGATGGTGGACGCAAT	0.453000													22	35					0	0	0.000586117	0	0
UBE4B	10277	broad.mit.edu	37	1	10218481	10218481	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:10218481C>T	ENST00000377157.3	+	21	3320	c.2259C>T	c.(2257-2259)acC>acT	p.T753T	UBE4B_ENST00000253251.8_Silent_p.T869T|UBE4B_ENST00000343090.6_Silent_p.T998T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	998					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATATTAGCACCATTTTTAAAA	0.428000													69	6					0	0	0.000147903	0	0
MPEG1	219972	broad.mit.edu	37	11	58978743	58978743	+	Silent	SNP	A	A	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:58978743A>G	ENST00000361050.3	-	1	1681	c.1596T>C	c.(1594-1596)ttT>ttC	p.F532F		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	532						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTGTGCAGCTAAAGAACCCGC	0.537000													24	6					0	0	0.000586117	0	0
VPS13B	157680	broad.mit.edu	37	8	100866132	100866132	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:100866132G>A	ENST00000358544.2	+	56	10701	c.10590G>A	c.(10588-10590)cgG>cgA	p.R3530R	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.R3505R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3530					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AACCTGCTCGGTTATACGTGG	0.413000													104	11					0	0	0.000147903	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310824	75310824	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:75310824C>T	ENST00000361900.6	+	7	668	c.461C>T	c.(460-462)cCc>cTc	p.P154L	SCAMP5_ENST00000562212.1_Missense_Mutation_p.P162L|SCAMP5_ENST00000545456.1_Missense_Mutation_p.P83L|SCAMP5_ENST00000425597.3_Missense_Mutation_p.P154L|SCAMP5_ENST00000568081.1_Missense_Mutation_p.P87L	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	154					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ATGCTAATTCCCACTGTCATG	0.582000													59	102					0	0	0.000147903	0	0
SDR16C5	195814	broad.mit.edu	37	8	57224797	57224797	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:57224797G>A	ENST00000522671.1	-	3	1115	c.384C>T	c.(382-384)atC>atT	p.I128I	SDR16C5_ENST00000303749.3_Silent_p.I128I|SDR16C5_ENST00000396721.2_Intron			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	128					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TGCCTGTTACGATTCCGGCAT	0.378000													72	12					0	0	0.000147903	0	0
RYR1	6261	broad.mit.edu	37	19	39071075	39071075	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:39071075C>T	ENST00000355481.4	+	100	14693	c.14562C>T	c.(14560-14562)ttC>ttT	p.F4854F	RYR1_ENST00000359596.3_Silent_p.F4859F|RYR1_ENST00000360985.3_Silent_p.F4854F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4859					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTTCAACTTCTTCCGCAAGT	0.592000													10	39					0	0	6.40141e-05	0	0
TRBC2	28638	broad.mit.edu	37	7	142499083	142499083	+	RNA	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:142499083C>T	ENST00000466254.1	+	0	359																											TCACCCAGATCGTCAGCGCCG	0.597000													14	72					0	0	9.7654e-05	0	0
DSCR10	259234	broad.mit.edu	37	21	39580553	39580553	+	RNA	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr21:39580553G>A	ENST00000432141.1	+	0	675					NR_027695.1																						GTTTGCCATCGAAGGAAAACC	0.403000													96	17					0	0	0.000147903	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144952265	144952265	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:144952265C>T	ENST00000369359.4	-	7	903	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E218K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E152K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E289K|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E152K|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.E152K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E152K|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.E289K|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E152K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	152					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGTACATCTTCCCAGTTTTTG	0.537000			T	PDGFRB	MPD								17	86					0	0	0.000409698	0	0
TRAV16	28667	broad.mit.edu	37	14	22458938	22458938	+	RNA	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:22458938C>T	ENST00000390444.1	+	0	90																											AGAAGCTCCTCTCTGTCTTTA	0.483000													9	3					0	0	3.86212e-05	0	0
FAM135B	51059	broad.mit.edu	37	8	139165247	139165247	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:139165247G>A	ENST00000395297.1	-	13	1641	c.1471C>T	c.(1471-1473)Cat>Tat	p.H491Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	491										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGTCCATATGATTTTGTGTG	0.418000										HNSCC(54;0.14)			43	6					0	0	0.000147903	0	0
ILDR2	387597	broad.mit.edu	37	1	166904624	166904624	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:166904624C>A	ENST00000271417.3	-	6	849	c.794G>T	c.(793-795)gGa>gTa	p.G265V	ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.G265V|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G246V	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	265						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGGGGCTCCTCCCAAAGGGAC	0.597000													7	85					0.000442599	0.00710987	0.000442599	1	0
MICAL2	9645	broad.mit.edu	37	11	12265580	12265580	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:12265580C>T	ENST00000256194.4	+	21	2993	c.2705C>T	c.(2704-2706)cCt>cTt	p.P902L	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.P902L|MICAL2_ENST00000537344.1_Intron	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	902						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CCTCCATCTCCTCCCTCTCGC	0.468000													144	24					0	0	0.000147903	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	by1000genomes	TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V1703A(5)		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)		CCAAGAGCAGACGTCCTTCCG	0.527000													5	56					0	0	0.000442599	0	0
ANKS6	203286	broad.mit.edu	37	9	101536204	101536204	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:101536204C>T	ENST00000353234.4	-	9	1823	c.1776G>A	c.(1774-1776)caG>caA	p.Q592Q	ANKS6_ENST00000375019.2_Silent_p.Q291Q|ANKS6_ENST00000375018.1_Silent_p.Q592Q|ANKS6_ENST00000540940.1_Silent_p.Q397Q			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	592										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGCTGGCTCTCTGGGGCAGCG	0.597000													12	16					0	0	0.000219431	0	0
ZNF592	9640	broad.mit.edu	37	15	85326620	85326620	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:85326620C>T	ENST00000299927.3	+	1	736	c.714C>T	c.(712-714)ttC>ttT	p.F238F	ZNF592_ENST00000560079.2_Silent_p.F238F			Q92610	ZN592_HUMAN	zinc finger protein 592	238					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F238F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCGATTCTTCGGGGAAGCTT	0.582000													43	64					0	0	0.000147903	0	0
KIF16B	55614	broad.mit.edu	37	20	16360709	16360709	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr20:16360709G>A	ENST00000354981.2	-	19	2095	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.I646I|KIF16B_ENST00000355755.3_Silent_p.I646I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	646	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GGAGCTGCACGATTTCTGTCT	0.502000													73	93					0	0	0.000147903	0	0
LPP	4026	broad.mit.edu	37	3	188327486	188327486	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:188327486C>T	ENST00000312675.4	+	6	1213	c.967C>T	c.(967-969)Cca>Tca	p.P323S	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.P323S|LPP_ENST00000543006.1_Missense_Mutation_p.P323S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	323	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACAAGGTCACCCAAATACCTG	0.542000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								13	14					0	0	0.000308642	0	0
SIRT1	23411	broad.mit.edu	37	10	69669084	69669084	+	Silent	SNP	T	T	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:69669084T>C	ENST00000212015.6	+	7	1295	c.1242T>C	c.(1240-1242)ttT>ttC	p.F414F	SIRT1_ENST00000432464.1_Silent_p.F119F|SIRT1_ENST00000406900.1_Silent_p.F111F|SIRT1_ENST00000403579.1_Silent_p.F111F	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	414	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						TTGTGTTTTTTGGTGAAAATT	0.408000													24	32					0	0	0.00047179	0	0
MAP7	9053	broad.mit.edu	37	6	136667071	136667071	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:136667071G>A	ENST00000354570.3	-	17	2572	c.2162C>T	c.(2161-2163)cCa>cTa	p.P721L	MAP7_ENST00000432797.2_Missense_Mutation_p.P575L|MAP7_ENST00000438100.2_Missense_Mutation_p.P706L|MAP7_ENST00000544465.1_Missense_Mutation_p.P706L|MAP7_ENST00000454590.1_Missense_Mutation_p.P743L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	721					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GGCCAAAATTGGATTCAAAGG	0.438000													12	3					0	0	0.00010058	0	0
OR6C65	403282	broad.mit.edu	37	12	55795165	55795165	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:55795165C>T	ENST00000379665.2	+	1	952	c.853C>T	c.(853-855)Ccc>Tcc	p.P285S		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TATGTTGAATCCCTTTATTTA	0.353000													20	19					0	0	0.000295444	0	0
ADCY8	114	broad.mit.edu	37	8	131861907	131861907	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:131861907G>A	ENST00000286355.5	-	10	4445	c.2353C>T	c.(2353-2355)Cgg>Tgg	p.R785W	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	785					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGACGTTCCGGGCCAAATAG	0.468000										HNSCC(32;0.087)			23	3					0	0	0.00047179	0	0
ADCY8	114	broad.mit.edu	37	8	131861908	131861908	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:131861908G>A	ENST00000286355.5	-	10	4444	c.2352C>T	c.(2350-2352)gcC>gcT	p.A784A	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	784					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGACGTTCCGGGCCAAATAGG	0.463000										HNSCC(32;0.087)			23	3					0	0	0.00047179	0	0
C1orf194	127003	broad.mit.edu	37	1	109650610	109650610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:109650610C>T	ENST00000369949.4	-	2	274	c.95G>A	c.(94-96)tGg>tAg	p.W32*	C1orf194_ENST00000369948.3_Nonsense_Mutation_p.W44*|C1orf194_ENST00000369945.3_Intron	NM_001122961.1	NP_001116433.1	Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	44										large_intestine(2)|lung(2)|ovary(2)	6						GAGCCGACTCCAGGGTTCCTG	0.473000													105	6					0	0	0.000147903	0	0
MUC16	94025	broad.mit.edu	37	19	9018458	9018458	+	Silent	SNP	A	A	T	rs138331829	by1000genomes	TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:9018458A>T	ENST00000397910.4	-	24	37919	c.37716T>A	c.(37714-37716)acT>acA	p.T12572T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12574	SEA 4.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACCCTCTCAGTGGTGTTGA	0.557000													6	94					0	0	0.000274275	0	0
DPYD	1806	broad.mit.edu	37	1	97544568	97544568	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:97544568C>T	ENST00000370192.3	-	23	3142	c.3042G>A	c.(3040-3042)aaG>aaA	p.K1014K		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	1014					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GTACGCCTCTCTTTGGTTCAT	0.428000													32	9					0	0	0.000159656	0	0
PDPR	55066	broad.mit.edu	37	16	70176252	70176252	+	Silent	SNP	T	T	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:70176252T>C	ENST00000288050.4	+	12	2388	c.1431T>C	c.(1429-1431)caT>caC	p.H477H	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000568530.1_Silent_p.H477H|PDPR_ENST00000398122.3_Silent_p.H377H	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	477					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)		TGGAGAAACATGGATTTGAGA	0.483000													20	71					0	0	0.000375601	0	0
COL5A3	50509	broad.mit.edu	37	19	10103517	10103517	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:10103517G>A	ENST00000264828.3	-	21	1919	c.1834C>T	c.(1834-1836)Ccc>Tcc	p.P612S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	612	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CGACCCGTGGGGCCAGGAGAG	0.587000													12	12					0	0	0.000422831	0	0
FFAR2	2867	broad.mit.edu	37	19	35941380	35941380	+	Missense_Mutation	SNP	G	G	T	rs150050074		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:35941380G>T	ENST00000599180.1	+	2	844	c.764G>T	c.(763-765)cGg>cTg	p.R255L	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.R255L			O15552	FFAR2_HUMAN	free fatty acid receptor 2	255						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCTGGTGGCGGTCAATAGCC	0.572000													6	41					3.59834e-05	0.000608455	3.59834e-05	1	0
SH3TC1	54436	broad.mit.edu	37	4	8220074	8220074	+	Splice_Site	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr4:8220074G>A	ENST00000539824.1	+	8	1062	c.688_splice	c.e8+1	p.A230_splice	SH3TC1_ENST00000245105.3_Splice_Site_p.A306_splice			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	306							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCGCTGATGGGTAAGTGTTT	0.577000													20	8					0	0	0.000295444	0	0
MAGIX	79917	broad.mit.edu	37	X	49021239	49021239	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:49021239G>A	ENST00000376338.3	+	2	220	c.141G>A	c.(139-141)ttG>ttA	p.L47L	MAGIX_ENST00000376339.1_Silent_p.L47L|MAGIX_ENST00000412696.2_Silent_p.L106L|MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000498742.1_Intron			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	106																	CTCCCCAATTGATCCAGGGTA	0.542000													47	75					0	0	0.000147903	0	0
C10orf11	83938	broad.mit.edu	37	10	77795790	77795790	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:77795790C>T	ENST00000372499.1	+	2	287	c.72C>T	c.(70-72)ttC>ttT	p.F24F	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	24										endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					TGAGCGCATTCAGGAGCCTGG	0.483000											OREG0020279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	42					0	0	0.00058488	0	0
FBXL18	80028	broad.mit.edu	37	7	5540613	5540613	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:5540613C>T	ENST00000382368.3	-	3	1410	c.1287G>A	c.(1285-1287)gcG>gcA	p.A429A	FBXL18_ENST00000453700.3_Silent_p.A429A	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	429									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		cggcgcgcggcgcggAGTCAG	0.736000													5	9					0	0	0.000602214	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882461	228882461	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:228882461G>A	ENST00000392056.3	-	7	3155	c.3109C>T	c.(3109-3111)Ctt>Ttt	p.L1037F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1037F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1037						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGGCAAAAAGATTGACAGAA	0.502000													50	49					0	0	0.000147903	0	0
FBXL5	26234	broad.mit.edu	37	4	15627231	15627231	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr4:15627231A>C	ENST00000341285.3	-	9	1618	c.1494T>G	c.(1492-1494)caT>caG	p.H498Q	FBXL5_ENST00000382358.4_Missense_Mutation_p.H372Q|FBXL5_ENST00000412094.2_Missense_Mutation_p.H481Q	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	498					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CAACATTTCTATGTCTCCATT	0.388000													52	37					0	0	0.000147903	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175155	143175155	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:143175155G>A	ENST00000408916.1	+	1	190	c.190G>A	c.(190-192)Gtg>Atg	p.V64M	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	64					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GGTTGGGACGGTGCACAACTT	0.572000													34	40					0	0	0.000191422	0	0
SVOP	55530	broad.mit.edu	37	12	109306351	109306351	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:109306351C>T	ENST00000299134.5	-	14	1410	c.1411G>A	c.(1411-1413)Gtg>Atg	p.V471M		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						AACACCTGCACCGTGCATTCC	0.627000													47	75					0	0	0.000147903	0	0
FBXO30	84085	broad.mit.edu	37	6	146127255	146127255	+	Missense_Mutation	SNP	C	C	T	rs147203065		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:146127255C>T	ENST00000237281.4	-	2	453	c.287G>A	c.(286-288)cGa>cAa	p.R96Q		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	96							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AACTGGCCATCGATTCCATTC	0.433000													9	23					0	0	3.86212e-05	0	0
SEC22C	9117	broad.mit.edu	37	3	42610483	42610483	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:42610483G>A	ENST00000273156.7	-	2	265	c.56C>T	c.(55-57)tCa>tTa	p.S19L	SEC22C_ENST00000423701.2_Missense_Mutation_p.S19L|SEC22C_ENST00000417572.1_Missense_Mutation_p.S19L|SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000264454.3_Missense_Mutation_p.S19L|SEC22C_ENST00000536332.1_5'UTR	NM_004206.3|NM_032970.3	NP_004197.1|NP_116752.1	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	19	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AGTAGAGGCTGAGAGGGGCAG	0.512000													10	21					0	0	0.000442599	0	0
NCAPD3	23310	broad.mit.edu	37	11	134050977	134050977	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:134050977G>A	ENST00000534548.2	-	20	2618	c.2554C>T	c.(2554-2556)Ctg>Ttg	p.L852L	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	852					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTTACCAACAGGTCTTCGTCC	0.458000													27	3					0	0	0.000279167	0	0
PCDH8	5100	broad.mit.edu	37	13	53418908	53418908	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr13:53418908C>T	ENST00000377942.3	-	3	3203	c.3000G>A	c.(2998-3000)agG>agA	p.R1000R	PCDH8_ENST00000338862.4_Silent_p.R903R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1000					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGTAATTGTCCCTGCGCAGAG	0.577000													5	34					0	0	0.000602214	0	0
CRHBP	1393	broad.mit.edu	37	5	76249874	76249874	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:76249874C>T	ENST00000274368.4	+	3	618	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F	CRHBP_ENST00000506501.1_Missense_Mutation_p.L66F	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	66					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CATGCTGAGCCTCCAGGGCCA	0.687000													138	22					0	0	0.000147903	0	0
ACOX3	8310	broad.mit.edu	37	4	8417696	8417696	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr4:8417696G>A	ENST00000356406.5	-	3	252	c.175C>T	c.(175-177)Cct>Tct	p.P59S	ACOX3_ENST00000413009.2_Missense_Mutation_p.P59S|ACOX3_ENST00000503233.1_Missense_Mutation_p.P59S	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	59					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCGAAAAGAGGGTCATTCTCA	0.478000													11	51					0	0	0.00010058	0	0
FCRLA	84824	broad.mit.edu	37	1	161681012	161681012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:161681012C>T	ENST00000367959.2	+	4	558	c.316C>T	c.(316-318)Caa>Taa	p.Q106*	FCRLA_ENST00000349527.4_Nonsense_Mutation_p.Q83*|FCRLA_ENST00000236938.6_Nonsense_Mutation_p.Q100*|FCRLA_ENST00000367953.3_Nonsense_Mutation_p.Q89*|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000540926.1_Nonsense_Mutation_p.Q89*	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	83	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GCTGATCCTCCAAGGTCCAGC	0.587000													30	1					0	0	0.00058488	0	0
HMBOX1	79618	broad.mit.edu	37	8	28837649	28837649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:28837649C>T	ENST00000397358.3	+	5	1266	c.562C>T	c.(562-564)Caa>Taa	p.Q188*	HMBOX1_ENST00000519047.1_Nonsense_Mutation_p.Q188*|HMBOX1_ENST00000523613.1_Nonsense_Mutation_p.Q188*|HMBOX1_ENST00000524238.1_Nonsense_Mutation_p.Q188*|HMBOX1_ENST00000287701.10_Nonsense_Mutation_p.Q188*|HMBOX1_ENST00000444075.1_Nonsense_Mutation_p.Q188*|HMBOX1_ENST00000403668.2_Nonsense_Mutation_p.Q188*|HMBOX1_ENST00000558662.1_Nonsense_Mutation_p.Q188*|HMBOX1_ENST00000355231.5_Nonsense_Mutation_p.Q188*	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	188					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GAGGATTTCCCAAGCAGTTGT	0.428000													150	27					0	0	0.000147903	0	0
ADARB2	105	broad.mit.edu	37	10	1279705	1279705	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:1279705G>A	ENST00000381312.1	-	6	1769	c.1444C>T	c.(1444-1446)Cat>Tat	p.H482Y	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	482	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ACGTAGAGATGGAAGAGGATG	0.547000													33	39					0	0	0.000339439	0	0
LYPD1	116372	broad.mit.edu	37	2	133426022	133426022	+	Silent	SNP	C	C	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:133426022C>A	ENST00000397463.2	-	2	413	c.141G>T	c.(139-141)acG>acT	p.T47T	LYPD1_ENST00000345008.6_5'UTR	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	47	UPAR/Ly6.					anchored to membrane|plasma membrane				lung(2)	2						GAACGTTCACCGTGCAATTCA	0.547000													6	50					0.000442599	0.00710987	0.000442599	1	0
FAM114A2	10827	broad.mit.edu	37	5	153374484	153374484	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:153374484G>A	ENST00000351797.4	-	13	1454	c.1378C>T	c.(1378-1380)Cta>Tta	p.L460L	FAM114A2_ENST00000522858.1_Silent_p.L460L|FAM114A2_ENST00000520667.1_Silent_p.L460L|FAM114A2_ENST00000518946.1_5'UTR|FAM114A2_ENST00000520313.1_Silent_p.L390L	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	460							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CTAACCTCTAGAAATACTGCA	0.328000													55	4					0	0	0.000147903	0	0
ABTB2	25841	broad.mit.edu	37	11	34184209	34184209	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:34184209C>T	ENST00000435224.2	-	10	2556	c.2132G>A	c.(2131-2133)cGg>cAg	p.R711Q	ABTB2_ENST00000298992.2_Missense_Mutation_p.R525Q	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	525							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGTGCGGGTCCGGCTCAGCCG	0.672000													12	19					0	0	6.40141e-05	0	0
RNF17	56163	broad.mit.edu	37	13	25338397	25338397	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr13:25338397G>A	ENST00000255324.5	+	1	108	c.56G>A	c.(55-57)gGg>gAg	p.G19E	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Missense_Mutation_p.G19E|RNF17_ENST00000381921.1_Missense_Mutation_p.G19E	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	19					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAGCGAATGGGGAGGAAGAGT	0.612000													16	3					0	0	0.000308642	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139894	55139894	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr4:55139894C>T	ENST00000257290.5	+	10	1886	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	519					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GCTGGTGGCTCCCAGTGAGTT	0.547000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			25	4					0	0	0.000117367	0	0
USP26	83844	broad.mit.edu	37	X	132160163	132160163	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:132160163G>A	ENST00000511190.1	-	6	2555	c.2086C>T	c.(2086-2088)Cca>Tca	p.P696S	USP26_ENST00000370832.1_Missense_Mutation_p.P696S|USP26_ENST00000406273.1_Missense_Mutation_p.P696S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	696					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTTCGTTTTGGATTTTCGGGC	0.383000													18	26					0	0	7.07596e-05	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390362	61390362	+	RNA	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr18:61390362C>T	ENST00000544088.1	+	0	970				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTGTTAAAATCTCTAGGGGTG	0.418000													3	5					0	0	0.000602214	0	0
ACR	49	broad.mit.edu	37	22	51178259	51178259	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:51178259G>A	ENST00000216139.5	+	3	459	c.419G>A	c.(418-420)gGa>gAa	p.G140E	ACR_ENST00000529621.1_Missense_Mutation_p.G140E	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	140	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA 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)		GCGACAGAGGGAAATGACATT	0.507000													42	34					0	0	0.000147903	0	0
OR52E4	390081	broad.mit.edu	37	11	5905551	5905551	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:5905551A>C	ENST00000316987.2	+	1	51	c.29A>C	c.(28-30)tAt>tCt	p.Y10S		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCACTTCTATCCCCCCTTC	0.443000													36	3					0	0	0.000509022	0	0
HRH1	3269	broad.mit.edu	37	3	11301037	11301037	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:11301037C>T	ENST00000397056.1	+	3	505	c.314C>T	c.(313-315)tCc>tTc	p.S105F	HRH1_ENST00000431010.2_Missense_Mutation_p.S105F|HRH1_ENST00000438284.2_Missense_Mutation_p.S105F	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	105					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TTTTGGCTTTCCATGGACTAT	0.542000													58	92					0	0	0.000147903	0	0
A1CF	29974	broad.mit.edu	37	10	52619645	52619645	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:52619645G>A	ENST00000282641.2	-	3	243	c.56C>T	c.(55-57)gCc>gTc	p.A19V	A1CF_ENST00000373997.3_Missense_Mutation_p.A19V|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000373993.1_Missense_Mutation_p.A19V|A1CF_ENST00000374001.1_Missense_Mutation_p.A19V|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.A19V	NM_138932.2	NP_620310.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	19					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGCGCGGAGGGCTGCTTCCTT	0.483000													10	11					0	0	0.00010058	0	0
EHHADH	1962	broad.mit.edu	37	3	184910256	184910256	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:184910256C>T	ENST00000231887.3	-	7	2005	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	EHHADH_ENST00000456310.1_Missense_Mutation_p.E548K	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	644						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCAATGTGCTCTGGGCTAGCA	0.478000													31	45					0	0	0.000132358	0	0
PDZD9	255762	broad.mit.edu	37	16	21995727	21995727	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:21995727G>A	ENST00000286143.6	-	5	791	c.470C>T	c.(469-471)cCt>cTt	p.P157L	PDZD9_ENST00000537222.2_Missense_Mutation_p.P159L|PDZD9_ENST00000424898.2_Missense_Mutation_p.P219L			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	219										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						GTATGGAGAAGGGGCCCTCAC	0.428000													58	103					0	0	0.000147903	0	0
BSN	8927	broad.mit.edu	37	3	49699732	49699732	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:49699732C>T	ENST00000296452.4	+	6	10568	c.10454C>T	c.(10453-10455)tCc>tTc	p.S3485F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3485					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGCCCTCATCCCTAAGTATG	0.652000													11	8					0	0	3.86212e-05	0	0
EXOSC1	51013	broad.mit.edu	37	10	99197027	99197027	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:99197027G>A	ENST00000370902.3	-	7	433	c.402C>T	c.(400-402)tcC>tcT	p.S134S	EXOSC1_ENST00000370885.4_Silent_p.S109S|EXOSC1_ENST00000370886.5_Silent_p.S117S|EXOSC1_ENST00000485122.2_Intron|EXOSC1_ENST00000471049.1_5'UTR	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	134	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		CATCACCTAAGGAGATCTAGT	0.488000													34	39					0	0	0.000491102	0	0
FBXO40	51725	broad.mit.edu	37	3	121340930	121340930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:121340930G>A	ENST00000338040.4	+	3	1068	c.654G>A	c.(652-654)tgG>tgA	p.W218*		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	218					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TTGGCCAGTGGGAAAATATTT	0.463000													13	42					0	0	0.000422831	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359506	70359506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr4:70359506G>A	ENST00000305107.6	-	2	821	c.775C>T	c.(775-777)Cga>Tga	p.R259*	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.R259*|UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.R123*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	259					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGTAGTTTCGAATAAGCCAT	0.413000													27	5					0	0	0.000117367	0	0
DOCK2	1794	broad.mit.edu	37	5	169494644	169494644	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:169494644G>A	ENST00000256935.8	+	45	4678	c.4598G>A	c.(4597-4599)gGg>gAg	p.G1533E	DOCK2_ENST00000520908.1_Missense_Mutation_p.G1025E|DOCK2_ENST00000540750.1_Missense_Mutation_p.G594E|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1533	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCTGAACGGGATTGTGGAC	0.532000													70	7					0	0	0.000147903	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956224	18956224	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:18956224G>A	ENST00000302797.3	-	1	332	c.108C>T	c.(106-108)atC>atT	p.I36I	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	36			I -> V (in dbSNP:rs11024885).		acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAGGGAAACGATGCACGTCA	0.557000													93	92					0	0	0.000147903	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	33					0	0	0.000602214	0	0
OR52J3	119679	broad.mit.edu	37	11	5068212	5068212	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:5068212C>T	ENST00000380370.1	+	1	457	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTGTAATTCGTCCCGTTTT	0.468000													14	2					0	0	0.000219431	0	0
SRSF7	6432	broad.mit.edu	37	2	38977228	38977228	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:38977228G>A	ENST00000313117.6	-	2	374	c.137C>T	c.(136-138)cCt>cTt	p.P46L	SRSF7_ENST00000446327.2_Missense_Mutation_p.P46L|SRSF7_ENST00000409276.1_Missense_Mutation_p.P46L	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	46	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAATCCTGGAGGATTTCTCGC	0.428000													43	52					0	0	0.000437636	0	0
LRRK1	79705	broad.mit.edu	37	15	101565040	101565040	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:101565040C>T	ENST00000284395.5	+	17	2491	c.2091C>T	c.(2089-2091)atC>atT	p.I697I	LRRK1_ENST00000388948.3_Silent_p.I700I			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	700	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTGGGACATCGGGGGACCGG	0.587000													36	57					0	0	0.000270559	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686463	3686463	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr20:3686463C>T	ENST00000344754.4	-	3	633	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G212S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	212	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGATCCGGCCGTGGTCCTGC	0.622000													54	57					0	0	0.000147903	0	0
HLTF	6596	broad.mit.edu	37	3	148759427	148759427	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:148759427C>T	ENST00000310053.5	-	20	2419	c.2226G>A	c.(2224-2226)aaG>aaA	p.K742K	HLTF_ENST00000392912.2_Silent_p.K742K|HLTF_ENST00000494055.1_Silent_p.K742K|HLTF_ENST00000465259.1_Silent_p.K741K	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	742					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTATTAACTTCTTTCTCAGTT	0.343000													37	60					0	0	0.000319135	0	0
POM121	9883	broad.mit.edu	37	7	72418883	72418883	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:72418883C>T	ENST00000395270.1	+	16	3915	c.2874C>T	c.(2872-2874)caC>caT	p.H958H	POM121_ENST00000446813.1_Silent_p.H958H|NSUN5P2_ENST00000388955.4_RNA	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	997	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTTTTGCTCACCAGCAAGAAC	0.473000													27	22					0	0	0.000117367	0	0
OR7D2	162998	broad.mit.edu	37	19	9297187	9297187	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:9297187C>T	ENST00000344248.2	+	1	909	c.730C>T	c.(730-732)Cac>Tac	p.H244Y		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	244					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTGTGGGTCTCACCTCTCCGT	0.478000													17	31					0	0	0.000566183	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555130	44555130	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr18:44555130C>T	ENST00000330682.2	-	1	1319	c.1084G>A	c.(1084-1086)Gtt>Att	p.V362I	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	362	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGTTCAAGAACCGAGTAGGGG	0.617000													13	492					0	0	0.000422831	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812560	140812560	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:140812560G>C	ENST00000252085.3	+	1	2376	c.2234G>C	c.(2233-2235)gGg>gCg	p.G745A	PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGTGGACGGGGTGCAGGCT	0.642000													4	76					0	0	0.000602214	0	0
LTBP2	4053	broad.mit.edu	37	14	75016658	75016658	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:75016658G>A	ENST00000261978.4	-	8	2083	c.1697C>T	c.(1696-1698)cCt>cTt	p.P566L	LTBP2_ENST00000556690.1_Missense_Mutation_p.P566L|LTBP2_ENST00000557425.1_5'UTR	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	566	TB 1.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCCAGCAGAGGGTTGGCACA	0.627000													8	15					0	0	0.000442599	0	0
PRSS38	339501	broad.mit.edu	37	1	228003816	228003816	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:228003816G>A	ENST00000366757.3	+	2	198	c.174G>A	c.(172-174)ggG>ggA	p.G58G		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	58					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCATGGAGGGGAAAATCCTGG	0.692000													77	7					0	0	0.000147903	0	0
NRP1	8829	broad.mit.edu	37	10	33515209	33515209	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:33515209C>T	ENST00000265371.4	-	8	1515	c.990G>A	c.(988-990)ttG>ttA	p.L330L	NRP1_ENST00000374821.5_Silent_p.L330L|NRP1_ENST00000374822.4_Silent_p.L330L|NRP1_ENST00000374816.3_Silent_p.L330L|NRP1_ENST00000374823.5_Silent_p.L330L|NRP1_ENST00000374867.2_Silent_p.L330L|NRP1_ENST00000395995.1_Silent_p.L330L			O14786	NRP1_HUMAN	neuropilin 1	330	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GCAGAAGGCCCAAGTCTACCT	0.493000													9	21					0	0	3.86212e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92523303	92523303	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:92523303G>A	ENST00000298047.6	+	7	4547	c.4530G>A	c.(4528-4530)cgG>cgA	p.R1510R	FAT3_ENST00000525166.1_Silent_p.R1360R|FAT3_ENST00000409404.2_Silent_p.R1510R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1510	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAAATTCCGGATTGACCCTA	0.493000										TCGA Ovarian(4;0.039)			133	26					0	0	0.000147903	0	0
MUC16	94025	broad.mit.edu	37	19	9073131	9073131	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:9073131G>A	ENST00000397910.4	-	3	14518	c.14315C>T	c.(14314-14316)cCt>cTt	p.P4772L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4774	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATAGAAACAGGAGAGGAGGT	0.483000													16	28					0	0	0.000308642	0	0
RAG1	5896	broad.mit.edu	37	11	36595128	36595128	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:36595128C>T	ENST00000299440.5	+	2	386	c.274C>T	c.(274-276)Cac>Tac	p.H92Y		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	92	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAGAAATTTCACGACAACGA	0.483000									Familial Hemophagocytic Lymphohistiocytosis				94	9					0	0	0.000147903	0	0
UNC5D	137970	broad.mit.edu	37	8	35544076	35544076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:35544076G>A	ENST00000287272.2	+	6	785	c.765G>A	c.(763-765)tgG>tgA	p.W255*	UNC5D_ENST00000404895.2_Nonsense_Mutation_p.W311*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.W311*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.W255*|UNC5D_ENST00000453357.2_Nonsense_Mutation_p.W306*			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	311	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ATGGGAGCTGGGAAGTGTGGA	0.522000													34	6					0	0	0.000509022	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013241	247013241	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:247013241C>A	ENST00000366508.1	-	33	6308	c.6172G>T	c.(6172-6174)Gga>Tga	p.G2058*	AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.G2032*|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.G2023*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2023	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCTGGTTTTCCAACATCAACA	0.393000													8	150					0.000274275	0.00449329	0.000274275	1	0
NLRP9	338321	broad.mit.edu	37	19	56249681	56249681	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:56249681C>T	ENST00000332836.2	-	1	87	c.60G>A	c.(58-60)aaG>aaA	p.K20K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	20	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAAACTCTTCCTTTCTGAGCT	0.453000													64	87					0	0	0.000147903	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101448313	101448313	+	RNA	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:101448313G>A	ENST00000554693.2	+	0	635				SNORD114-21_ENST00000606412.1_RNA																							GGCCATTCCTGGATCAATGAT	0.398000													16	20					0	0	7.07596e-05	0	0
ZC3H14	79882	broad.mit.edu	37	14	89068387	89068387	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:89068387G>A	ENST00000251038.5	+	11	1699	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	ZC3H14_ENST00000555900.1_Missense_Mutation_p.D194N|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Missense_Mutation_p.D492N|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000393514.5_Missense_Mutation_p.D467N	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	492						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GAAGACTGCAGATTCCCTTCG	0.428000													19	121					0	0	0.000375601	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917924	89917924	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:89917924G>A	ENST00000548729.1	-	3	696	c.394C>T	c.(394-396)Cct>Tct	p.P132S	POC1B_ENST00000549035.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.P135S|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					GAGGTGGTAGGAAGTGTCCTA	0.408000											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	27					0	0	0.000295444	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202446936	202446936	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:202446936G>A	ENST00000439140.1	-	5	565	c.521C>T	c.(520-522)cCc>cTc	p.P174L	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.P174L|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.P174L|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.P174L	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	174										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATAACGTCTGGGAACCTCAAT	0.289000													62	87					0	0	0.000147903	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27765849	27765849	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:27765849C>T	ENST00000451261.2	+	5	1236	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGGCCAAGTTCCTTCCTAACT	0.478000													10	11					0	0	3.86212e-05	0	0
CCDC33	80125	broad.mit.edu	37	15	74536355	74536355	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:74536355C>T	ENST00000321288.5	+	4	660	c.660C>T	c.(658-660)atC>atT	p.I220I	CCDC33_ENST00000398814.3_Silent_p.I17I			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	220							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCCCCTGATCGCCTCCCAGA	0.557000													18	35					0	0	0.000375601	0	0
PDZD9	255762	broad.mit.edu	37	16	21995728	21995728	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:21995728G>A	ENST00000286143.6	-	5	790	c.469C>T	c.(469-471)Cct>Tct	p.P157S	PDZD9_ENST00000537222.2_Missense_Mutation_p.P159S|PDZD9_ENST00000424898.2_Missense_Mutation_p.P219S			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	219										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TATGGAGAAGGGGCCCTCACT	0.433000													58	100					0	0	0.000147903	0	0
BMP1	649	broad.mit.edu	37	8	22049631	22049631	+	Silent	SNP	C	C	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:22049631C>A	ENST00000306385.5	+	9	1817	c.1147C>A	c.(1147-1149)Cga>Aga	p.R383R	BMP1_ENST00000397816.3_Silent_p.R383R|BMP1_ENST00000306349.8_Silent_p.R383R|BMP1_ENST00000397814.3_Silent_p.R383R|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	383	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGTGGAGGTCCGAGATGGCTT	0.612000													5	61					8.12818e-05	0.00135853	8.12818e-05	1	0
ZNF763	284390	broad.mit.edu	37	19	12087920	12087920	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:12087920C>T	ENST00000343949.5	+	2	235	c.80C>T	c.(79-81)tCg>tTg	p.S27L	ZNF763_ENST00000358987.3_Missense_Mutation_p.S24L|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000538752.1_Missense_Mutation_p.S44L|ZNF763_ENST00000591944.1_Missense_Mutation_p.S93L|ZNF763_ENST00000590798.1_Missense_Mutation_p.S44L|ZNF763_ENST00000592625.1_Missense_Mutation_p.S24L	NM_001012753.1	NP_001012771.1			zinc finger protein 763									p.S26L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CTGGATATTTCGCAGAGGAAA	0.493000													56	56					0	0	0.000147903	0	0
XYLT1	64131	broad.mit.edu	37	16	17202607	17202607	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:17202607C>T	ENST00000261381.6	-	12	2909	c.2825G>A	c.(2824-2826)aGc>aAc	p.S942N		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	942					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGGTCAGGGCTGAAGGAGCT	0.652000													5	11					0	0	0.000602214	0	0
DNAH2	146754	broad.mit.edu	37	17	7681746	7681746	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:7681746G>A	ENST00000572933.1	+	35	6960	c.5500G>A	c.(5500-5502)Gac>Aac	p.D1834N	DNAH2_ENST00000389173.2_Missense_Mutation_p.D1834N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1834	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAGGGCCTGGACTACAAGTC	0.567000													16	5					0	0	0.000566183	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78317818	78317818	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:78317818G>A	ENST00000409931.3	-	5	940	c.869C>T	c.(868-870)cCc>cTc	p.P290L	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.P290L			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	290						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AAAATCAAAGGGGAATCCTGA	0.408000													13	13					0	0	0.000422831	0	0
ZBBX	79740	broad.mit.edu	37	3	167000284	167000284	+	Splice_Site	SNP	C	C	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:167000284C>A	ENST00000392766.2	-	19	2220		c.e19-1		ZBBX_ENST00000307529.5_Splice_Site|ZBBX_ENST00000392764.1_Splice_Site|ZBBX_ENST00000392767.2_Splice_Site|ZBBX_ENST00000455345.2_Splice_Site	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing							intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GATTTCTGACCTAAAATTAAA	0.338000													9	154					0.000442599	0.00710987	0.000442599	1	0
LRP5	4041	broad.mit.edu	37	11	68197081	68197081	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:68197081C>T	ENST00000294304.7	+	17	3782	c.3676C>T	c.(3676-3678)Cac>Tac	p.H1226Y		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1226	EGF-like 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCTGCTCCCACATCTGTAT	0.577000													43	9					0	0	0.000147903	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930178	45930178	+	Silent	SNP	G	G	T	rs142789241		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:45930178G>T	ENST00000275525.3	+	2	677	c.381G>T	c.(379-381)acG>acT	p.T127T	IGFBP1_ENST00000457280.1_Silent_p.T127T|IGFBP1_ENST00000468955.1_Silent_p.T127T	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	127						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						CAGAGAGCACGGAGATAACTG	0.552000													6	63					0.000157383	0.00260042	0.000157383	1	0
NOX5	79400	broad.mit.edu	37	15	69340211	69340211	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:69340211C>T	ENST00000260364.5	+	14	2106	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	NOX5_ENST00000388866.3_Missense_Mutation_p.S620F|NOX5_ENST00000530406.2_Missense_Mutation_p.S592F|NOX5_ENST00000525163.1_3'UTR|NOX5_ENST00000455873.3_Missense_Mutation_p.S585F|NOX5_ENST00000448182.3_Missense_Mutation_p.S574F			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	620					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGCCAGCACTCCTGGATCGAA	0.542000													26	40					0	0	0.000279167	0	0
CACNA2D1	781	broad.mit.edu	37	7	81600048	81600048	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:81600048C>T	ENST00000356860.3	-	27	2485	c.2147G>A	c.(2146-2148)gGa>gAa	p.G716E	CACNA2D1_ENST00000535308.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.G728E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	728						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGCTTTCACTCCCTTGCTGAA	0.338000													17	23					0	0	9.7654e-05	0	0
DHX36	170506	broad.mit.edu	37	3	154027597	154027597	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:154027597T>G	ENST00000496811.1	-	5	738	c.658A>C	c.(658-660)Att>Ctt	p.I220L	DHX36_ENST00000544526.1_Missense_Mutation_p.I220L|DHX36_ENST00000329463.5_Missense_Mutation_p.I220L|DHX36_ENST00000308361.6_Missense_Mutation_p.I220L	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	220	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGTTATCAATTAAATTTACC	0.308000													9	10					0	0	3.86212e-05	0	0
NUP214	8021	broad.mit.edu	37	9	134016001	134016001	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:134016001C>T	ENST00000359428.5	+	11	1342	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.P400S|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.P400S			P35658	NU214_HUMAN	nucleoporin 214kDa	400					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGTGCTTTGTCCATTTTATAT	0.383000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								39	59					0	0	0.000319135	0	0
GPD1	2819	broad.mit.edu	37	12	50500639	50500639	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:50500639C>T	ENST00000301149.3	+	5	783	c.551C>T	c.(550-552)cCa>cTa	p.P184L	GPD1_ENST00000548814.1_Missense_Mutation_p.P161L|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	184					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	ATGCAGACACCAAACTTCCGT	0.532000													18	23					0	0	7.07596e-05	0	0
F2	2147	broad.mit.edu	37	11	46748278	46748278	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:46748278C>T	ENST00000311907.5	+	9	1077	c.1021C>T	c.(1021-1023)Ctg>Ttg	p.L341L	F2_ENST00000530231.1_Silent_p.L341L	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	341					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCTGCGACCTCTGTTCGAGAA	0.612000													29	5					0	0	0.000184323	0	0
FSHR	2492	broad.mit.edu	37	2	49381553	49381553	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:49381553C>T	ENST00000406846.2	-	1	123	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	FSHR_ENST00000346173.3_Missense_Mutation_p.A2T|FSHR_ENST00000304421.4_Missense_Mutation_p.A2T	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	2					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AGGAGCAGGGCCATAATTATG	0.488000									Gonadal Dysgenesis, 46 XX				6	6					0	0	0.000442599	0	0
RHOT2	89941	broad.mit.edu	37	16	720261	720261	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:720261C>T	ENST00000315082.4	+	7	456	c.342C>T	c.(340-342)atC>atT	p.I114I	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	114	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TGCCCATCATCCTAGTGGGCA	0.642000													22	20					0	0	0.00047179	0	0
TCF20	6942	broad.mit.edu	37	22	42608868	42608868	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:42608868G>A	ENST00000359486.3	-	1	2580	c.2444C>T	c.(2443-2445)cCc>cTc	p.P815L	TCF20_ENST00000335626.4_Missense_Mutation_p.P815L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCCCCAGTGGGGATTTTCTAA	0.443000													23	29					0	0	0.000375601	0	0
DDR1	780	broad.mit.edu	37	6	30859856	30859856	+	Missense_Mutation	SNP	G	G	T	rs112944019		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:30859856G>T	ENST00000324771.8	+	9	1291	c.743G>T	c.(742-744)cGg>cTg	p.R248L	DDR1_ENST00000452441.1_Missense_Mutation_p.R248L|DDR1_ENST00000508312.1_Missense_Mutation_p.R266L|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000446312.1_Missense_Mutation_p.G215W|DDR1_ENST00000376568.3_Missense_Mutation_p.R248L|DDR1_ENST00000376567.2_Missense_Mutation_p.R248L|DDR1_ENST00000376569.3_Missense_Mutation_p.R248L|DDR1_ENST00000376570.4_Missense_Mutation_p.R248L|DDR1_ENST00000513240.1_Missense_Mutation_p.R248L|DDR1_ENST00000418800.2_Missense_Mutation_p.R248L|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000376575.3_Missense_Mutation_p.R248L|DDR1_ENST00000454612.2_Missense_Mutation_p.R248L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	248					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R248L(2)|p.R248R(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CAGGAGCTGCGGGTCTGGCCA	0.577000													7	78					3.86212e-05	0.000649263	3.86212e-05	1	0
IGF1R	3480	broad.mit.edu	37	15	99454591	99454591	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:99454591C>T	ENST00000268035.6	+	7	2121	c.1510C>T	c.(1510-1512)Cgc>Tgc	p.R504C	IGF1R_ENST00000558762.1_Missense_Mutation_p.R504C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	504	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GTCGAAGAATCGCATCATCAT	0.512000													18	23					0	0	0.000566183	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276620	47276620	+	Splice_Site	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:47276620G>A	ENST00000271153.4	+	2	357	c.322_splice	c.e2+1	p.G107_splice	CYP4B1_ENST00000371923.4_Splice_Site_p.G107_splice|CYP4B1_ENST00000371919.4_Splice_Site_p.G107_splice			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	107					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					ACAGCCGTGGGGGTGAGGAGA	0.567000													14	0					0	0	7.07596e-05	0	0
C18orf54	162681	broad.mit.edu	37	18	51888373	51888373	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr18:51888373C>T	ENST00000382911.4	+	3	976	c.644C>T	c.(643-645)tCa>tTa	p.S215L	C18orf54_ENST00000578138.1_Intron|C18orf54_ENST00000300091.5_Intron			Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	214						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ATTTCTGAATCATCTTTGTCT	0.363000													12	5					0	0	0.00010058	0	0
KCNV2	169522	broad.mit.edu	37	9	2718835	2718835	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:2718835G>A	ENST00000382082.3	+	1	1334	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	366						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CGGCCAGACGGTGGGCAGCGT	0.672000													18	2					0	0	0.000229342	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884820	38884820	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr21:38884820G>A	ENST00000339659.3	+	11	3721	c.2251G>A	c.(2251-2253)Gta>Ata	p.V751I	DYRK1A_ENST00000398960.2_Missense_Mutation_p.V760I|DYRK1A_ENST00000455387.2_Missense_Mutation_p.V532I|DYRK1A_ENST00000338785.3_3'UTR	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	760					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACAGAGTCCTGTAGCTAGCTC	0.423000													36	42					0	0	0.000319135	0	0
C16orf92	146378	broad.mit.edu	37	16	30034974	30034974	+	Silent	SNP	A	A	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:30034974A>C	ENST00000300575.2	+	2	78	c.57A>C	c.(55-57)ccA>ccC	p.P19P		NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	19						integral to membrane				breast(3)|lung(3)	6						ACAGGGTCCCAAGTCAGCTTC	0.592000													5	12					0	0	3.59834e-05	0	0
ANKRD18A	253650	broad.mit.edu	37	9	38586238	38586238	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:38586238C>T	ENST00000399703.5	-	12	2563	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E		NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	730										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						ATTTAAGTCTCCATGGCAACT	0.284000													16	0					0	0	0.000175454	0	0
POM121	9883	broad.mit.edu	37	7	72418884	72418884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:72418884C>T	ENST00000395270.1	+	16	3916	c.2875C>T	c.(2875-2877)Cag>Tag	p.Q959*	POM121_ENST00000446813.1_Nonsense_Mutation_p.Q959*|NSUN5P2_ENST00000388955.4_RNA	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	998	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTTTGCTCACCAGCAAGAACA	0.478000													28	20					0	0	0.000184323	0	0
LTBP4	8425	broad.mit.edu	37	19	41128911	41128911	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:41128911C>T	ENST00000308370.7	+	28	3739	c.3739C>T	c.(3739-3741)Ctg>Ttg	p.L1247L	LTBP4_ENST00000396819.3_Silent_p.L1180L|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.L1210L|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Silent_p.L615L	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1248					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGTGGAGACCTGAGCCTCCG	0.617000													8	6					0	0	3.86212e-05	0	0
OR4K13	390433	broad.mit.edu	37	14	20502103	20502103	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:20502103G>A	ENST00000315693.2	-	1	816	c.815C>T	c.(814-816)tCt>tTt	p.S272F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTAAAACACAGAAAGAATTTT	0.363000													18	14					0	0	0.000566183	0	0
EFTUD2	9343	broad.mit.edu	37	17	42942341	42942341	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:42942341G>A	ENST00000426333.2	-	14	1539	c.1242C>T	c.(1240-1242)ccC>ccT	p.P414P	EFTUD2_ENST00000402521.3_Silent_p.P379P|EFTUD2_ENST00000591382.1_Silent_p.P414P|EFTUD2_ENST00000592576.1_Silent_p.P404P	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	414						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCCTGAGCAAGGGGCGGATGT	0.562000											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	95					0	0	0.000147903	0	0
LARP4B	23185	broad.mit.edu	37	10	931638	931638	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:931638C>T	ENST00000316157.3	-	1	64	c.24G>A	c.(22-24)aaG>aaA	p.K8K		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	8							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CAGCCACAACCTTAGCGTCCT	0.517000													24	30					0	0	0.000117367	0	0
EXOSC5	56915	broad.mit.edu	37	19	41903196	41903196	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:41903196G>A	ENST00000221233.4	-	1	188	c.38C>T	c.(37-39)gCt>gTt	p.A13V	EXOSC5_ENST00000596905.1_Missense_Mutation_p.A13V|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	13					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCCATTTTCAGCACGGATTTT	0.647000													25	54					0	0	0.000117367	0	0
HBBP1	3044	broad.mit.edu	37	11	5264435	5264435	+	RNA	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:5264435G>A	ENST00000454892.1	-	0	61					NR_001589.1																						CAGCTTTTCCGAAGGAGATCA	0.498000													22	2					0	0	0.00047179	0	0
PRR12	57479	broad.mit.edu	37	19	50099552	50099552	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:50099552C>T	ENST00000418929.2	+	4	1972	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	412	Pro-rich.						DNA binding	p.R654W(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CAGCCCTCCTCGGACCTCAGG	0.706000													4	4					0	0	0.00024832	0	0
FAM19A5	25817	broad.mit.edu	37	22	49103657	49103657	+	Splice_Site	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:49103657G>A	ENST00000358295.5	+	3	544		c.e3+1		FAM19A5_ENST00000473898.1_Splice_Site|FAM19A5_ENST00000406880.1_Splice_Site|FAM19A5_ENST00000402357.1_Splice_Site	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5							extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GACCACCACGGTATGTGGCCC	0.657000													28	30					0	0	0.000409698	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143452	41143452	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:41143452C>T	ENST00000361677.1	+	5	1573	c.1561C>T	c.(1561-1563)Cac>Tac	p.H521Y		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	521	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GACAGCCATCCACATGGTGCT	0.557000													19	27					0	0	9.7654e-05	0	0
SDPR	8436	broad.mit.edu	37	2	192700881	192700881	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:192700881C>T	ENST00000304141.4	-	2	1375	c.1046G>A	c.(1045-1047)gGg>gAg	p.G349E		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	349						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)	TGCAATTTCCCCTTCCACCAG	0.562000													46	38					0	0	0.000147903	0	0
DNAH9	1770	broad.mit.edu	37	17	11845635	11845635	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:11845635G>A	ENST00000262442.3	+	67	12744	c.12676G>A	c.(12676-12678)Gaa>Aaa	p.E4226K	DNAH9_ENST00000396001.2_Missense_Mutation_p.E538K|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4150K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4226					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCACTTCTGGAAGAAATATT	0.498000													16	100					0	0	9.7654e-05	0	0
HUWE1	10075	broad.mit.edu	37	X	53576139	53576139	+	Silent	SNP	T	T	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:53576139T>A	ENST00000342160.3	-	66	10273	c.9816A>T	c.(9814-9816)ctA>ctT	p.L3272L	HUWE1_ENST00000262854.6_Silent_p.L3272L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3272					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCATCTTGTGTAGCAGGTCCA	0.498000													44	42					0	0	0.000147903	0	0
NBAS	51594	broad.mit.edu	37	2	15567905	15567905	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:15567905A>G	ENST00000281513.5	-	22	2378	c.2353T>C	c.(2353-2355)Tcc>Ccc	p.S785P	NBAS_ENST00000441750.1_Missense_Mutation_p.S785P	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	785										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATCATCAGGGAGTCACCGTTA	0.403000													4	16					0	0	0.000602214	0	0
XIRP2	129446	broad.mit.edu	37	2	168105186	168105186	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:168105186A>C	ENST00000409195.1	+	9	7373	c.7284A>C	c.(7282-7284)aaA>aaC	p.K2428N	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K2206N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K2428N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2253					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAAACCCAAACTTCCCAAGC	0.408000													6	56					0	0	0.000157383	0	0
PLCG2	5336	broad.mit.edu	37	16	81942029	81942029	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:81942029C>T	ENST00000359376.3	+	17	1780	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	522					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGGATATACCCCCTACAGAAC	0.542000													13	19					0	0	0.000422831	0	0
ATP13A4	84239	broad.mit.edu	37	3	193210912	193210912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:193210912C>T	ENST00000342695.4	-	4	741	c.419G>A	c.(418-420)tGg>tAg	p.W140*	ATP13A4_ENST00000295548.3_Nonsense_Mutation_p.W140*|ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.W140*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	140					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TAAGTAGTTCCAAACATATCT	0.333000													29	43					0	0	0.000159656	0	0
DSC3	1825	broad.mit.edu	37	18	28576991	28576991	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr18:28576991G>A	ENST00000434452.1	-	15	2413	c.2259C>T	c.(2257-2259)acC>acT	p.T753T	DSC3_ENST00000360428.4_Silent_p.T753T	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	753					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGGTAGTTTGGGTCATAAATC	0.388000													14	20					0	0	0.000422831	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918970	21918970	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:21918970C>T	ENST00000240662.2	-	3	1307	c.962G>A	c.(961-963)gGc>gAc	p.G321D	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	321						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	AAAGCGGTGGCCCCATTGGAT	0.478000													30	33					0	0	0.00058488	0	0
USP6	9098	broad.mit.edu	37	17	5058771	5058771	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:5058771G>A	ENST00000574788.1	+	31	4928	c.2698G>A	c.(2698-2700)Gga>Aga	p.G900R	USP6_ENST00000250066.6_Missense_Mutation_p.G900R|USP6_ENST00000304328.5_Missense_Mutation_p.G583R|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	900					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGCCTCTTTGGAATGCCATT	0.473000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								22	95					0	0	0.000117367	0	0
CSMD1	64478	broad.mit.edu	37	8	3165304	3165304	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:3165304C>T	ENST00000602557.1	-	26	4421	c.3866G>A	c.(3865-3867)cGa>cAa	p.R1289Q	CSMD1_ENST00000602723.1_Missense_Mutation_p.R1289Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1288Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1288Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1288Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1289Q|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1289Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1289	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGACAATATTCGTCCTGATGT	0.478000													48	4					0	0	0.000147903	0	0
ZNF117	51351	broad.mit.edu	37	7	64438953	64438953	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:64438953G>A	ENST00000282869.5	-	4	2280	c.996C>T	c.(994-996)ccC>ccT	p.P332P		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	332						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CACATTTGTAGGGTTTCTCTC	0.358000													11	18					0	0	0.00010058	0	0
LZTR1	8216	broad.mit.edu	37	22	21343934	21343934	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:21343934T>G	ENST00000215739.8	+	7	973	c.614T>G	c.(613-615)aTt>aGt	p.I205S	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.I186S	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	205					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATGTGGACAATTGGCCTCCAG	0.647000													11	8					0	0	0.00010058	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474589	140474589	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:140474589G>A	ENST00000194155.4	+	1	363	c.215G>A	c.(214-216)gGa>gAa	p.G72E		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		72	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTCCAAAGGAAAAAAAATG	0.522000													61	7					0	0	0.000147903	0	0
SYTL5	94122	broad.mit.edu	37	X	37979716	37979716	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:37979716C>A	ENST00000357972.5	+	14	2248	c.1702C>A	c.(1702-1704)Caa>Aaa	p.Q568K	SYTL5_ENST00000297875.2_Missense_Mutation_p.Q568K|SYTL5_ENST00000456733.2_Missense_Mutation_p.Q590K|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	568					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						AGAACAACTCCAAGGTAGAGT	0.398000													7	63					0.000442599	0.00710987	0.000442599	1	0
DDX3X	1654	broad.mit.edu	37	X	41206955	41206955	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:41206955G>T	ENST00000399959.2	+	17	2827	c.1972G>T	c.(1972-1974)Gac>Tac	p.D658Y	DDX3X_ENST00000441189.2_Missense_Mutation_p.D135Y|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.D642Y	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	658	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CCAGGGGGTTGACTGGTGGGG	0.428000										HNSCC(61;0.18)			29	51					3.67414e-24	6.30491e-23	0.000409698	1	0
SERPINA7	6906	broad.mit.edu	37	X	105277518	105277518	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:105277518C>T	ENST00000327674.4	-	4	1556	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	SERPINA7_ENST00000372563.1_Silent_p.G407G			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	407					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TCACAACTTTCCCTAGAAAGA	0.388000													54	7					0	0	0.000147903	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37422873	37422873	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:37422873G>A	ENST00000374660.1	+	5	578	c.479G>A	c.(478-480)gGa>gAa	p.G160E	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G160E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G160E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	216						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTATGTCATGGATCATCAGAG	0.378000													47	69					0	0	0.000147903	0	0
GUCA1C	9626	broad.mit.edu	37	3	108627012	108627012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:108627012G>A	ENST00000261047.3	-	4	619	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	GUCA1C_ENST00000393963.3_Missense_Mutation_p.S176L	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	163	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						AGGAGATCCTGATCTTTTGCC	0.413000													22	25					0	0	0.000375601	0	0
UBAP2	55833	broad.mit.edu	37	9	33922684	33922684	+	Splice_Site	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:33922684C>T	ENST00000379238.1	-	28	3382		c.e28+1		UBAP2_ENST00000379239.4_Splice_Site|UBAP2_ENST00000360802.1_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000449054.1_Splice_Site|UBAP2_ENST00000379235.1_Splice_Site			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTGTACTCACCTGTGCATCC	0.622000													11	2					0	0	6.40141e-05	0	0
MIR522	574495	broad.mit.edu	37	19	54254478	54254478	+	RNA	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:54254478C>T	ENST00000385071.1	+	0	14					NR_030217.1																						CAGGCTGTGTCCCTCTAGAGG	0.413000													57	85					0	0	0.000147903	0	0
ABCG1	9619	broad.mit.edu	37	21	43708082	43708082	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr21:43708082C>T	ENST00000398437.1	+	10	1643	c.1495C>T	c.(1495-1497)Cac>Tac	p.H499Y	ABCG1_ENST00000340588.4_Missense_Mutation_p.H461Y|ABCG1_ENST00000343687.3_Missense_Mutation_p.H364Y|ABCG1_ENST00000398449.3_Missense_Mutation_p.H353Y|ABCG1_ENST00000398457.2_Missense_Mutation_p.H355Y|ABCG1_ENST00000361802.2_Missense_Mutation_p.H353Y|ABCG1_ENST00000347800.2_Missense_Mutation_p.H350Y|ABCG1_ENST00000462050.1_3'UTR			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	353	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TGACTCAGACCACAAGAGAGA	0.552000													37	15					0	0	0.000132358	0	0
FAM124A	220108	broad.mit.edu	37	13	51825617	51825617	+	Silent	SNP	T	T	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr13:51825617T>A	ENST00000322475.8	+	3	249	c.114T>A	c.(112-114)gtT>gtA	p.V38V	FAM124A_ENST00000280057.6_Silent_p.V74V	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	38										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGCTTTCCGTTGAAGAGGCGC	0.517000													7	66					0	0	3.86212e-05	0	0
BAP1	8314	broad.mit.edu	37	3	52436850	52436850	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:52436850A>G	ENST00000460680.1	-	15	2399	c.1928T>C	c.(1927-1929)aTt>aCt	p.I643T	BAP1_ENST00000296288.5_Missense_Mutation_p.I625T	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	643	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ATAGTTTGCAATCTCAGCCTC	0.567000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							35	47					0	0	0.000147903	0	0
EVI2B	2124	broad.mit.edu	37	17	29632632	29632632	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:29632632G>A	ENST00000544462.1	-	3	195	c.41C>T	c.(40-42)tCt>tTt	p.S14F	CTD-2370N5.3_ENST00000578584.1_3'UTR|EVI2B_ENST00000577894.1_5'UTR|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000330927.4_5'UTR			P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	0						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		ATCCATTTCAGAATATTTCCT	0.323000													20	32					0	0	0.000175454	0	0
NRDE2	55051	broad.mit.edu	37	14	90770317	90770317	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:90770317G>A	ENST00000354366.3	-	5	1199	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	NRDE2_ENST00000357904.3_Missense_Mutation_p.R92W	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TGCGTATCCCGAGGATTCTCC	0.517000													40	29					0	0	0.000374591	0	0
NF1	4763	broad.mit.edu	37	17	29664384	29664384	+	Splice_Site	SNP	A	A	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:29664384A>G	ENST00000358273.4	+	43	6810		c.e43-1		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTCTCTTACAGAAGAGACCA	0.318000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			21	15					0	0	0.000229342	0	0
LYST	1130	broad.mit.edu	37	1	235969220	235969220	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:235969220G>A	ENST00000389794.3	-	6	3390	c.3216C>T	c.(3214-3216)tcC>tcT	p.S1072S	LYST_ENST00000536965.1_Silent_p.S1072S|LYST_ENST00000389793.2_Silent_p.S1072S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1072					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCACATTTATGGAAGAAATAT	0.383000													87	5					0	0	0.000147903	0	0
DNAJB12	54788	broad.mit.edu	37	10	74104769	74104769	+	Missense_Mutation	SNP	C	C	A	rs141686379	by1000genomes	TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:74104769C>A	ENST00000338820.3	-	2	501	c.352G>T	c.(352-354)Ggt>Tgt	p.G118C	DNAJB12_ENST00000394903.2_Missense_Mutation_p.G118C|DNAJB12_ENST00000444643.2_Missense_Mutation_p.G84C|DNAJB12_ENST00000461919.1_Intron	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	84	J.				protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						CCAGCTTCACCGTTGGCCGAG	0.612000													8	144					0.000442599	0.00710987	0.000442599	1	0
LARP4B	23185	broad.mit.edu	37	10	931637	931637	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:931637C>T	ENST00000316157.3	-	1	65	c.25G>A	c.(25-27)Gtt>Att	p.V9I		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	9							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCAGCCACAACCTTAGCGTCC	0.512000													23	31					0	0	9.22233e-05	0	0
DOPEY2	9980	broad.mit.edu	37	21	37600017	37600017	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr21:37600017C>T	ENST00000399151.3	+	13	1592	c.1507C>T	c.(1507-1509)Cct>Tct	p.P503S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	503					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCAGTATCTCCCTCAGGTGCT	0.478000													25	28					0	0	0.000117367	0	0
ATP4A	495	broad.mit.edu	37	19	36050767	36050767	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:36050767C>T	ENST00000262623.3	-	7	1024	c.996G>A	c.(994-996)atG>atA	p.M332I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	332					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGAAGAAGACCATGGCCCGCA	0.597000													14	14					0	0	0.000219431	0	0
ARSG	22901	broad.mit.edu	37	17	66352868	66352868	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:66352868T>G	ENST00000448504.2	+	6	1423	c.627T>G	c.(625-627)atT>atG	p.I209M	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.I45M	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	209					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCTCAACATTGTGGAGCAGC	0.512000													17	35					0	0	7.07596e-05	0	0
KRT72	140807	broad.mit.edu	37	12	52994945	52994945	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:52994945G>A	ENST00000293745.2	-	1	377	c.292C>T	c.(292-294)Cct>Tct	p.P98S	KRT72_ENST00000354310.4_Missense_Mutation_p.P98S|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000537672.2_Missense_Mutation_p.P98S	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	98	Head.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GTGACCTGAGGGATGCCCCCG	0.731000													6	9					0	0	8.12818e-05	0	0
FCRLA	84824	broad.mit.edu	37	1	161681011	161681011	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:161681011C>T	ENST00000367959.2	+	4	557	c.315C>T	c.(313-315)ctC>ctT	p.L105L	FCRLA_ENST00000349527.4_Silent_p.L82L|FCRLA_ENST00000236938.6_Silent_p.L99L|FCRLA_ENST00000367953.3_Silent_p.L88L|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000540926.1_Silent_p.L88L	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	82	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GGCTGATCCTCCAAGGTCCAG	0.587000													29	2					0	0	0.00058488	0	0
NLRC3	197358	broad.mit.edu	37	16	3614107	3614107	+	RNA	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:3614107C>T	ENST00000301749.7	-	0	1236				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCACCAGGCCCCCTGGGATCT	0.597000													15	19					0	0	0.000422831	0	0
WSCD2	9671	broad.mit.edu	37	12	108589838	108589838	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:108589838C>T	ENST00000332082.4	+	3	1047	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	WSCD2_ENST00000549903.1_Missense_Mutation_p.R77W|WSCD2_ENST00000547525.1_Missense_Mutation_p.R77W|WSCD2_ENST00000261400.3_Missense_Mutation_p.R77W			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	77						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAGAGGTTTCCGGGACACAGG	0.617000													62	50					0	0	0.000147903	0	0
ZNF251	90987	broad.mit.edu	37	8	145947433	145947433	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:145947433G>A	ENST00000292562.7	-	5	1887	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTCCAGTGGGAATCTGTCCA	0.483000													90	15					0	0	0.000147903	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907975	164907975	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:164907975C>T	ENST00000475390.1	-	2	1087	c.644G>A	c.(643-645)gGa>gAa	p.G215E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G215E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	215						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATCTAGCATTCCTCGGTAAAA	0.423000										HNSCC(40;0.11)			31	37					0	0	0.000491102	0	0
BMX	660	broad.mit.edu	37	X	15540570	15540570	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:15540570C>T	ENST00000357607.2	+	7	800	c.612C>T	c.(610-612)tcC>tcT	p.S204S	BMX_ENST00000348343.6_Silent_p.S204S|BMX_ENST00000342014.6_Silent_p.S204S			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	204					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ACTATGGCTCCCAGCCACCAT	0.443000													28	27					0	0	0.000184323	0	0
ZNF107	51427	broad.mit.edu	37	7	64167466	64167466	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:64167466C>T	ENST00000395391.1	+	4	2159	c.784C>T	c.(784-786)Cat>Tat	p.H262Y	ZNF107_ENST00000344930.3_Missense_Mutation_p.H262Y|ZNF107_ENST00000423627.1_Missense_Mutation_p.H262Y			Q9UII5	ZN107_HUMAN	zinc finger protein 107	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TCTTACTAACCATAAGAGAAT	0.358000													14	19					0	0	0.000219431	0	0
C12orf74	338809	broad.mit.edu	37	12	93100806	93100806	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:93100806C>T	ENST00000544406.2	+	2	665	c.399C>T	c.(397-399)ctC>ctT	p.L133L	C12orf74_ENST00000397833.3_Silent_p.L133L			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	133										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						ACAAGTATCTCCCTCCTGAGC	0.582000													23	35					0	0	0.00047179	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875797	75875797	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:75875797G>A	ENST00000266659.3	+	2	559	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	120					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CTGGTATGACGAAATCCAGGA	0.453000													14	45					0	0	0.000219431	0	0
USH2A	7399	broad.mit.edu	37	1	215901637	215901637	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:215901637G>A	ENST00000366943.2	-	61	12187	c.11801C>T	c.(11800-11802)cCt>cTt	p.P3934L	USH2A_ENST00000307340.3_Missense_Mutation_p.P3934L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3934	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGTGTGAAAGGCCTCAGGGT	0.478000										HNSCC(13;0.011)			79	7					0	0	0.000147903	0	0
MUC1	4582	broad.mit.edu	37	1	155161850	155161850	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:155161850C>T	ENST00000368395.1	-	2	354	c.283G>A	c.(283-285)Gga>Aga	p.G95R	MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368398.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	875						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACATCCTGTCCCCAGGTGGCA	0.677000			T	IGH@	B-NHL								35	3					0	0	0.000409698	0	0
KDM6B	23135	broad.mit.edu	37	17	7750590	7750590	+	Silent	SNP	C	C	T	rs35821012		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:7750590C>T	ENST00000254846.5	+	10	1466	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	KDM6B_ENST00000448097.2_Silent_p.D359D	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	359	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCGGAAGTGACCTTAGAGAGA	0.711000													21	86					0	0	0.000375601	0	0
IL17RA	23765	broad.mit.edu	37	22	17583071	17583071	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:17583071C>T	ENST00000319363.6	+	7	774	c.641C>T	c.(640-642)gCc>gTc	p.A214V		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	214					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ACCCTGGAGGCCCACCAGCTG	0.587000													21	34					0	0	0.000295444	0	0
GNA14	9630	broad.mit.edu	37	9	80043925	80043925	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:80043925C>T	ENST00000341700.6	-	5	1134	c.621G>A	c.(619-621)tcG>tcA	p.S207S	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	207					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TCCGTCTTTCCGATCGTTGGC	0.453000													62	88					0	0	0.000147903	0	0
DISP2	85455	broad.mit.edu	37	15	40660891	40660891	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:40660891G>A	ENST00000267889.3	+	8	2665	c.2578G>A	c.(2578-2580)Ggc>Agc	p.G860S		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	860					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTCTGCTGCGGCCACTCGGA	0.672000													10	11					0	0	0.00010058	0	0
HUWE1	10075	broad.mit.edu	37	X	53576138	53576138	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:53576138G>A	ENST00000342160.3	-	66	10274	c.9817C>T	c.(9817-9819)Cac>Tac	p.H3273Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.H3273Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3273					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCATCTTGTGTAGCAGGTCC	0.498000													44	40					0	0	0.000147903	0	0
S100A13	6284	broad.mit.edu	37	1	153598826	153598826	+	Silent	SNP	C	C	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:153598826C>A	ENST00000368699.1	-	4	626	c.123G>T	c.(121-123)ctG>ctT	p.L41L	RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000339556.4_Silent_p.L41L|S100A13_ENST00000392622.1_Silent_p.L41L|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000392623.1_Silent_p.L41L|S100A13_ENST00000440685.2_Silent_p.L41L	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	41	EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	GCTGGGTAACCAGCTCTTTGA	0.522000													10	279					3.86212e-05	0.000649263	3.86212e-05	1	0
KIAA1715	80856	broad.mit.edu	37	2	176812232	176812232	+	Missense_Mutation	SNP	G	G	A	rs147224445	by1000genomes	TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:176812232G>A	ENST00000272748.4	-	9	929	c.682C>T	c.(682-684)Cct>Tct	p.P228S	KIAA1715_ENST00000544803.1_Missense_Mutation_p.P228S|KIAA1715_ENST00000535310.1_Missense_Mutation_p.P153S	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	228	Pro-rich.					integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			GAAGTAGCAGGGGATCCAAGA	0.453000													20	25					0	0	0.000229342	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344791	38344791	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:38344791C>T	ENST00000374618.3	+	5	1917	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.P586L|ZNF33A_ENST00000458705.2_Missense_Mutation_p.P579L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.P579L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	579						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GGGGAGAAACCCTACGAATGT	0.388000													17	25					0	0	0.000566183	0	0
MFNG	4242	broad.mit.edu	37	22	37876786	37876786	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:37876786G>A	ENST00000356998.3	-	2	500	c.277C>T	c.(277-279)Cca>Tca	p.P93S	MFNG_ENST00000416983.3_Intron	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	93					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CCTTTGTCTGGGCTGTCGGTG	0.612000													11	14					0	0	3.86212e-05	0	0
RPL36A	6173	broad.mit.edu	37	X	100645981	100645981	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:100645981C>T	ENST00000427805.2	+	1	170	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S	RPL36A_ENST00000553110.3_5'UTR	NM_021029.5	NP_066357.2			ribosomal protein L36a											liver(4)|lung(1)|prostate(1)	6						CTATATACTTCCGTTTGCCTC	0.567000											OREG0019892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	7					0	0	0.00047179	0	0
ACOX3	8310	broad.mit.edu	37	4	8417697	8417697	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr4:8417697G>T	ENST00000356406.5	-	3	251	c.174C>A	c.(172-174)gaC>gaA	p.D58E	ACOX3_ENST00000413009.2_Missense_Mutation_p.D58E|ACOX3_ENST00000503233.1_Missense_Mutation_p.D58E	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	58					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CGAAAAGAGGGTCATTCTCAA	0.473000													11	50					4.84862e-15	8.24692e-14	6.40141e-05	1	0
DISP2	85455	broad.mit.edu	37	15	40660892	40660892	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:40660892G>A	ENST00000267889.3	+	8	2666	c.2579G>A	c.(2578-2580)gGc>gAc	p.G860D		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	860					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTCTGCTGCGGCCACTCGGAC	0.672000													10	11					0	0	0.00010058	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606113	21606113	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:21606113T>A	ENST00000281523.2	-	3	747	c.229A>T	c.(229-231)Aag>Tag	p.K77*	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	77						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATGATTTGCTTTCTTCGGTGG	0.323000													22	34					0	0	0.000586117	0	0
MUC16	94025	broad.mit.edu	37	19	9077387	9077387	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:9077387C>T	ENST00000397910.4	-	3	10262	c.10059G>A	c.(10057-10059)ggG>ggA	p.G3353G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3354	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCCTGTGGTCCCTCCAGTAG	0.483000													41	48					0	0	0.000509022	0	0
ADCY8	114	broad.mit.edu	37	8	131812710	131812710	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:131812710G>A	ENST00000286355.5	-	15	5114	c.3022C>T	c.(3022-3024)Ctg>Ttg	p.L1008L	ADCY8_ENST00000377928.3_Silent_p.L877L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1008					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGCAAGCGCAGGCATTCCACT	0.443000										HNSCC(32;0.087)			86	14					0	0	0.000147903	0	0
CREB5	9586	broad.mit.edu	37	7	28848877	28848877	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:28848877G>A	ENST00000357727.2	+	9	1490	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	CREB5_ENST00000409603.1_Missense_Mutation_p.R334Q|CREB5_ENST00000396300.2_Missense_Mutation_p.R360Q|CREB5_ENST00000396298.2_Missense_Mutation_p.R228Q|CREB5_ENST00000396299.2_Missense_Mutation_p.R334Q	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	367					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGGCGCCGGCGAAGGGTGGTA	0.632000													92	105					0	0	0.000147903	0	0
KIAA1715	80856	broad.mit.edu	37	2	176812233	176812233	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:176812233G>A	ENST00000272748.4	-	9	928	c.681C>T	c.(679-681)tcC>tcT	p.S227S	KIAA1715_ENST00000544803.1_Silent_p.S227S|KIAA1715_ENST00000535310.1_Silent_p.S152S	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	227	Pro-rich.					integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AAGTAGCAGGGGATCCAAGAT	0.458000													20	25					0	0	0.000229342	0	0
RBP2	5948	broad.mit.edu	37	3	139173626	139173626	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:139173626C>T	ENST00000232217.2	-	3	355	c.299G>A	c.(298-300)gGg>gAg	p.G100E	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	100					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CTCCTTCTCCCCCTTTTGCAC	0.517000													29	49					0	0	0.000132358	0	0
LAMB3	3914	broad.mit.edu	37	1	209796403	209796403	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:209796403C>A	ENST00000391911.1	-	16	2869	c.2480G>T	c.(2479-2481)gGg>gTg	p.G827V	LAMB3_ENST00000367030.3_Missense_Mutation_p.G827V|LAMB3_ENST00000356082.4_Missense_Mutation_p.G827V	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	827	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CAAGAAGGCCCCACCGGCCCT	0.652000													7	80					0.000274275	0.00449329	0.000274275	1	0
KCNK5	8645	broad.mit.edu	37	6	39158965	39158965	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:39158965C>T	ENST00000359534.3	-	5	1539	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	401					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGCTCGCATTCCTCGCTGATG	0.627000													33	4					0	0	0.000109025	0	0
LRRC16B	90668	broad.mit.edu	37	14	24525553	24525553	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:24525553C>T	ENST00000342740.5	+	11	970	c.816C>T	c.(814-816)agC>agT	p.S272S	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	272										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		AGAACGGGAGCTGTGTGCTGC	0.617000													5	11					0	0	8.12818e-05	0	0
DLGAP3	58512	broad.mit.edu	37	1	35350619	35350619	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:35350619C>T	ENST00000373347.1	-	8	2228	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	DLGAP3_ENST00000235180.4_Missense_Mutation_p.E654K			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	654					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GAGTGGAACTCCCTCCGGCTC	0.602000													39	4					0	0	0.000147903	0	0
RBM28	55131	broad.mit.edu	37	7	127963633	127963633	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:127963633C>A	ENST00000223073.1	-	13	1465	c.1351G>T	c.(1351-1353)Ggg>Tgg	p.G451W	RBM28_ENST00000415472.2_Missense_Mutation_p.G310W	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	451					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GCCTTCGTCCCAGCACGAATC	0.463000													7	128					8.12818e-05	0.00135853	8.12818e-05	1	0
CHD7	55636	broad.mit.edu	37	8	61765709	61765709	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:61765709C>T	ENST00000423902.2	+	31	6904	c.6425C>T	c.(6424-6426)tCc>tTc	p.S2142F	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2142					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AATACATCTTCCTTGAACCCA	0.463000													28	2					0	0	0.000279167	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329698	88329698	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr13:88329698C>T	ENST00000325089.6	+	2	2274	c.2055C>T	c.(2053-2055)ttC>ttT	p.F685F	SLITRK5_ENST00000400028.3_Silent_p.F444F	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	685						integral to membrane		p.F685F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCGGGCTCTTCGTGCTGGTCA	0.592000													38	8					0	0	0.000270559	0	0
OR6B1	135946	broad.mit.edu	37	7	143701701	143701701	+	Silent	SNP	G	G	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:143701701G>T	ENST00000408922.2	+	1	680	c.612G>T	c.(610-612)ctG>ctT	p.L204L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCCTGGCACTGGTCATCTTCC	0.458000													6	104					0.000157383	0.00260042	0.000157383	1	0
SPAG6	9576	broad.mit.edu	37	10	22678237	22678237	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:22678237C>T	ENST00000376603.2	+	7	1371	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F	SPAG6_ENST00000376624.3_Missense_Mutation_p.S334F|SPAG6_ENST00000313311.6_Missense_Mutation_p.S334F|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.S309F|SPAG6_ENST00000376601.1_Intron			O75602	SPAG6_HUMAN	sperm associated antigen 6	334					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GTCATCATTTCTAAGGTTTGT	0.418000													8	8					0	0	0.000442599	0	0
SMEK2	57223	broad.mit.edu	37	2	55826001	55826001	+	Missense_Mutation	SNP	G	G	T	rs143951318		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:55826001G>T	ENST00000272313.5	-	4	799	c.472C>A	c.(472-474)Cgt>Agt	p.R158S	SMEK2_ENST00000407823.3_Missense_Mutation_p.R158S|SMEK2_ENST00000345102.5_Missense_Mutation_p.R158S	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	158						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTTTCCCTACGGATAGGTGAG	0.433000													7	124					0.000157383	0.00260042	0.000157383	1	0
RGL4	266747	broad.mit.edu	37	22	24034331	24034331	+	Silent	SNP	G	G	A	rs148535347	byFrequency	TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:24034331G>A	ENST00000290691.5	+	1	1284	c.114G>A	c.(112-114)acG>acA	p.T38T	GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Intron	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	38					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CAGGGCGCACGAGGGTCTGTA	0.602000													20	25					0	0	0.000175454	0	0
AHDC1	27245	broad.mit.edu	37	1	27874405	27874405	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:27874405A>T	ENST00000374011.2	-	6	5190	c.4222T>A	c.(4222-4224)Ttc>Atc	p.F1408I	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.F1408I	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1408							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCTTCCTTGAAGCCCAGTGTA	0.667000													27	6					0	0	0.000184323	0	0
KDM6B	23135	broad.mit.edu	37	17	7750591	7750591	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:7750591C>T	ENST00000254846.5	+	10	1467	c.1078C>T	c.(1078-1080)Ctt>Ttt	p.L360F	KDM6B_ENST00000448097.2_Missense_Mutation_p.L360F	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	360	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CGGAAGTGACCTTAGAGAGAG	0.706000													24	87					0	0	9.22233e-05	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64766717	64766717	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:64766717C>T	ENST00000536360.1	-	3	1163	c.350G>A	c.(349-351)gGg>gAg	p.G117E				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	117					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCCATCTTTCCCCCAATATTC	0.358000													54	7					0	0	0.000147903	0	0
STAB2	55576	broad.mit.edu	37	12	104123987	104123987	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:104123987C>T	ENST00000388887.2	+	49	5380	c.5176C>T	c.(5176-5178)Ccc>Tcc	p.P1726S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1726					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATTGCTATCTCCCAAAAATTT	0.358000													41	67					0	0	0.000319135	0	0
RASAL2	9462	broad.mit.edu	37	1	178252734	178252734	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:178252734G>T	ENST00000448150.3	+	2	1002	c.184G>T	c.(184-186)Ggt>Tgt	p.G62C	RASAL2_ENST00000367649.3_Missense_Mutation_p.G80C|RASAL2_ENST00000465723.1_3'UTR	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TCTGTCTTGTGGTCAGTCACC	0.463000													8	157					0.000442599	0.00710987	0.000442599	1	0
NRP1	8829	broad.mit.edu	37	10	33515208	33515208	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:33515208C>T	ENST00000265371.4	-	8	1516	c.991G>A	c.(991-993)Ggc>Agc	p.G331S	NRP1_ENST00000374821.5_Missense_Mutation_p.G331S|NRP1_ENST00000374822.4_Missense_Mutation_p.G331S|NRP1_ENST00000374816.3_Missense_Mutation_p.G331S|NRP1_ENST00000374823.5_Missense_Mutation_p.G331S|NRP1_ENST00000374867.2_Missense_Mutation_p.G331S|NRP1_ENST00000395995.1_Missense_Mutation_p.G331S			O14786	NRP1_HUMAN	neuropilin 1	331	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CGCAGAAGGCCCAAGTCTACC	0.493000													9	23					0	0	3.86212e-05	0	0
FAM162A	26355	broad.mit.edu	37	3	122121620	122121620	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:122121620G>C	ENST00000477892.1	+	2	132	c.48G>C	c.(46-48)agG>agC	p.R16S	FAM162A_ENST00000469967.1_Missense_Mutation_p.R16S|FAM162A_ENST00000232125.5_Missense_Mutation_p.R6S	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	16						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						GCTGTTTTAGGTTATGTGAAA	0.353000													15	30					0	0	7.07596e-05	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917923	89917923	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:89917923G>A	ENST00000548729.1	-	3	697	c.395C>T	c.(394-396)cCt>cTt	p.P132L	POC1B_ENST00000549035.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.P135L|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					AGAGGTGGTAGGAAGTGTCCT	0.403000											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	29					0	0	0.000295444	0	0
MYO1A	4640	broad.mit.edu	37	12	57422623	57422623	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:57422623G>A	ENST00000442789.2	-	29	3335	c.3048C>T	c.(3046-3048)gtC>gtT	p.V1016V	TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Silent_p.V1016V|MYO1A_ENST00000544473.1_Silent_p.V854V	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1016					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCCCTGGACGACCTTGACAG	0.562000													22	27					0	0	0.000295444	0	0
GPD1	2819	broad.mit.edu	37	12	50500638	50500638	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:50500638C>T	ENST00000301149.3	+	5	782	c.550C>T	c.(550-552)Cca>Tca	p.P184S	GPD1_ENST00000548814.1_Missense_Mutation_p.P161S|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	184					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GATGCAGACACCAAACTTCCG	0.527000													18	22					0	0	7.07596e-05	0	0
ZNF683	257101	broad.mit.edu	37	1	26688454	26688454	+	Silent	SNP	G	G	A	rs146588417	byFrequency	TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:26688454G>A	ENST00000436292.1	-	7	1383	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	ZNF683_ENST00000403843.1_Silent_p.S421S|ZNF683_ENST00000349618.3_Silent_p.S401S|ZNF683_ENST00000374204.1_Silent_p.S401S			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GCCGGGCCCCGGAGTGCAGGC	0.647000													27	5					0	0	9.22233e-05	0	0
CHRM2	1129	broad.mit.edu	37	7	136700449	136700449	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:136700449G>A	ENST00000445907.2	+	3	1365	c.837G>A	c.(835-837)gaG>gaA	p.E279E	AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Silent_p.E279E|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.E279E|CHRM2_ENST00000320658.5_Silent_p.E279E|CHRM2_ENST00000453373.1_Silent_p.E279E|CHRM2_ENST00000401861.1_Silent_p.E279E|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	279					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGGGAGAGGAGAAGGAGAGCT	0.498000													7	6					0	0	0.000157383	0	0
SFPQ	6421	broad.mit.edu	37	1	35652667	35652667	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:35652667C>G	ENST00000357214.5	-	9	2019	c.1921G>C	c.(1921-1923)Ggt>Cgt	p.G641R		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	641	Poly-Gly.				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GCTTCATAACCTATGCCACCA	0.463000			T	TFE3	papillary renal cell								5	65					0	0	0.000602214	0	0
WEE1	7465	broad.mit.edu	37	11	9597474	9597474	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:9597474G>T	ENST00000450114.2	+	2	869	c.616G>T	c.(616-618)Gtt>Ttt	p.V206F	WEE1_ENST00000299613.6_5'UTR	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	206					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TTCCAGCTCTGTTAAACTCCG	0.393000													37	8					1.15505e-17	1.97623e-16	0.000437636	1	0
ANK1	286	broad.mit.edu	37	8	41554043	41554043	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:41554043C>T	ENST00000396942.1	-	26	2881	c.2798G>A	c.(2797-2799)gGc>gAc	p.G933D	ANK1_ENST00000379758.2_Missense_Mutation_p.G933D|ANK1_ENST00000352337.4_Missense_Mutation_p.G933D|ANK1_ENST00000265709.8_Missense_Mutation_p.G974D|ANK1_ENST00000289734.7_Missense_Mutation_p.G933D|ANK1_ENST00000396945.1_Missense_Mutation_p.G933D|ANK1_ENST00000347528.4_Missense_Mutation_p.G933D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	933	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACTCGCAGGCCGTTGTGGCG	0.662000													13	2					0	0	0.000308642	0	0
STARD3	10948	broad.mit.edu	37	17	37818531	37818531	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:37818531C>T	ENST00000336308.5	+	14	1385	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	STARD3_ENST00000394250.4_Silent_p.I371I|STARD3_ENST00000580611.1_Silent_p.I363I|STARD3_ENST00000544210.2_Silent_p.I389I	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	389	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGGCTTCATCGTGCTCAAGT	0.587000													11	8					0	0	0.000151284	0	0
PIK3R4	30849	broad.mit.edu	37	3	130405201	130405201	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:130405201G>A	ENST00000356763.3	-	15	3886	c.3329C>T	c.(3328-3330)tCt>tTt	p.S1110F	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1110					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GGCAAGAACAGACTGTGCTCC	0.468000													11	21					0	0	0.00010058	0	0
GALNT15	117248	broad.mit.edu	37	3	16216975	16216975	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:16216975G>A	ENST00000339732.5	+	1	820	c.317G>A	c.(316-318)aGg>aAg	p.R106K	GALNT15_ENST00000437509.1_Missense_Mutation_p.R106K|GALNT15_ENST00000470031.1_3'UTR	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CAGGCCAGAAGGAACCAGAGC	0.622000													7	12					0	0	3.86212e-05	0	0
ENPP1	5167	broad.mit.edu	37	6	132206095	132206095	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:132206095C>T	ENST00000360971.2	+	23	2356	c.2336C>T	c.(2335-2337)aCc>aTc	p.T779I		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	779	Nuclease.		T -> P (in dbSNP:rs1805138).		3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTTCATGACACCCTACTGCGA	0.393000													22	6					0	0	9.22233e-05	0	0
OR6C76	390326	broad.mit.edu	37	12	55820290	55820290	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:55820290G>A	ENST00000328314.3	+	1	253	c.253G>A	c.(253-255)Ggg>Agg	p.G85R		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATTCTAACAGGGGACAAATC	0.408000													35	36					0	0	0.000228196	0	0
FLT3	2322	broad.mit.edu	37	13	28608112	28608112	+	Silent	SNP	T	T	C	rs140784892		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr13:28608112T>C	ENST00000380982.4	-	15	1935	c.1854A>G	c.(1852-1854)tcA>tcG	p.S618S	FLT3_ENST00000537084.1_Silent_p.S618S|FLT3_ENST00000241453.7_Silent_p.S618S			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	618	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.G617_S618ins21(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAAGCACCTGATCCTAGTA	0.403000			"""Mis, O"""		"""AML, ALL"""								117	41					0	0	0.000147903	0	0
OR7G3	390883	broad.mit.edu	37	19	9237442	9237442	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:9237442A>G	ENST00000305444.2	-	1	184	c.185T>C	c.(184-186)cTc>cCc	p.L62P		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GATAGAGAGGAGGAAGTACAT	0.537000													34	38					0	0	0.000132358	0	0
RASGRP1	10125	broad.mit.edu	37	15	38793488	38793488	+	Splice_Site	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:38793488C>T	ENST00000310803.5	-	13	1716	c.1538_splice	c.e13-1	p.R513_splice	RASGRP1_ENST00000558164.1_Splice_Site_p.R478_splice|RASGRP1_ENST00000539159.1_Splice_Site_p.R465_splice|RASGRP1_ENST00000559830.1_Splice_Site_p.R478_splice|RASGRP1_ENST00000561180.1_Splice_Site_p.R564_splice|RASGRP1_ENST00000450598.2_Splice_Site_p.R478_splice	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	513	EF-hand 2.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGAGGCCTTCCCTGCCGGCAG	0.522000													14	23					0	0	0.000566183	0	0
EPHB2	2048	broad.mit.edu	37	1	23191380	23191380	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:23191380C>T	ENST00000400191.3	+	5	996	c.978C>T	c.(976-978)tcC>tcT	p.S326S	EPHB2_ENST00000374627.1_Silent_p.S320S|EPHB2_ENST00000374630.3_Silent_p.S326S|EPHB2_ENST00000544305.1_Silent_p.S326S|EPHB2_ENST00000374632.3_Silent_p.S326S|EPHB2_ENST00000465676.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	326	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCATCCCCTCCGCGCCCCAGG	0.652000													25	4					0	0	0.00047179	0	0
NOVA2	4858	broad.mit.edu	37	19	46444131	46444131	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:46444131T>C	ENST00000263257.5	-	4	663	c.469A>G	c.(469-471)Atg>Gtg	p.M157V		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	157	KH 2.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GACTGTTCCATCACGGCTTTC	0.652000													10	13					0	0	6.40141e-05	0	0
LDB3	11155	broad.mit.edu	37	10	88439896	88439896	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:88439896G>A	ENST00000429277.2	+	4	448	c.303G>A	c.(301-303)ccG>ccA	p.P101P	LDB3_ENST00000263066.6_Silent_p.P101P|LDB3_ENST00000372056.4_Silent_p.P101P|LDB3_ENST00000542786.1_Silent_p.P101P|LDB3_ENST00000310944.6_Silent_p.P101P|LDB3_ENST00000352360.5_Silent_p.P101P|LDB3_ENST00000361373.4_Silent_p.P101P|LDB3_ENST00000458213.2_Silent_p.P101P|LDB3_ENST00000372066.3_Silent_p.P101P	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	101			P -> L (in dbSNP:rs45592139).			cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCCCTCTGCCGGTGATCCCTC	0.612000													14	21					0	0	0.000308642	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139401	101139401	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:101139401G>A	ENST00000372782.3	-	7	1045	c.998C>T	c.(997-999)tCt>tTt	p.S333F	ZMAT1_ENST00000458570.1_Missense_Mutation_p.S162F|ZMAT1_ENST00000540921.1_Missense_Mutation_p.S333F|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	162						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AGTATCCACAGAGTTCTCTCT	0.413000													20	8					0	0	0.000295444	0	0
TMEM39A	55254	broad.mit.edu	37	3	119165876	119165876	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:119165876G>A	ENST00000319172.5	-	5	984	c.564C>T	c.(562-564)ttC>ttT	p.F188F	TMEM39A_ENST00000486159.1_Intron	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	188						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		GGTAGCCAAGGAAAAGGAGAT	0.393000													20	15					0	0	0.000295444	0	0
MAP3K5	4217	broad.mit.edu	37	6	136944008	136944008	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:136944008C>T	ENST00000359015.4	-	15	2488	c.2128G>A	c.(2128-2130)Gaa>Aaa	p.E710K	MAP3K5_ENST00000355845.4_Intron	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	710	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCTGGGATTTCCTTAATAGCA	0.393000													89	26					0	0	0.000147903	0	0
WNT10B	7480	broad.mit.edu	37	12	49361771	49361771	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:49361771G>A	ENST00000403957.1	-	5	776	c.473C>T	c.(472-474)tCc>tTc	p.S158F	WNT10B_ENST00000407467.1_Missense_Mutation_p.S176F|WNT10B_ENST00000301061.4_Silent_p.I223I			O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	0					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						TTCGTGCCTGGATGTCCCGGG	0.547000													7	11					0	0	8.12818e-05	0	0
RC3H1	149041	broad.mit.edu	37	1	173930261	173930261	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:173930261G>A	ENST00000367696.2	-	13	2675	c.2324C>T	c.(2323-2325)cCt>cTt	p.P775L	RC3H1_ENST00000367694.2_Missense_Mutation_p.P775L|RC3H1_ENST00000258349.4_Missense_Mutation_p.P775L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	775	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGGTGCAAAAGGAGGTGGAGA	0.463000													100	12					0	0	0.000147903	0	0
OR14C36	127066	broad.mit.edu	37	1	248512755	248512755	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:248512755C>T	ENST00000317861.1	+	1	679	c.679C>T	c.(679-681)Cca>Tca	p.P227S		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GCTCGGGTTTCCAAGAGGAGC	0.507000													55	5					0	0	0.000147903	0	0
LYN	4067	broad.mit.edu	37	8	56864528	56864528	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:56864528G>C	ENST00000520220.2	+	7	702	c.428G>C	c.(427-429)aGc>aCc	p.S143T	LYN_ENST00000519728.1_Missense_Mutation_p.S164T	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	164	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			CCCATAGGAAGCTTCTCTCTG	0.373000													74	15					0	0	0.000147903	0	0
OR10A3	26496	broad.mit.edu	37	11	7960755	7960755	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:7960755G>A	ENST00000360759.3	-	1	386	c.313C>T	c.(313-315)Ctt>Ttt	p.L105F		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L105I(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAAAAAGAAGGATGAAATAC	0.438000													35	5					0	0	0.000109025	0	0
HSPA2	3306	broad.mit.edu	37	14	65008605	65008605	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:65008605C>T	ENST00000247207.6	+	1	1420	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	HSPA2_ENST00000394709.1_Silent_p.I346I	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	346					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCACTCGTATCCCCAAGATCC	0.642000													19	21					0	0	9.7654e-05	0	0
OR7D4	125958	broad.mit.edu	37	19	9324991	9324991	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:9324991G>A	ENST00000308682.2	-	1	551	c.523C>T	c.(523-525)Ccg>Tcg	p.P175S		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AAGAAATGCGGAATCTCAGTG	0.507000													19	31					0	0	0.000229342	0	0
UBE3B	89910	broad.mit.edu	37	12	109962272	109962272	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:109962272C>T	ENST00000342494.3	+	23	3127	c.2532C>T	c.(2530-2532)ggC>ggT	p.G844G	UBE3B_ENST00000434735.2_Silent_p.G844G	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	844	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTGACCTGGGCCTGACGCTGT	0.567000													18	29					0	0	0.000375601	0	0
KIF16B	55614	broad.mit.edu	37	20	16355038	16355038	+	Nonsense_Mutation	SNP	G	G	A	rs141670446		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr20:16355038G>A	ENST00000354981.2	-	20	3371	c.3214C>T	c.(3214-3216)Cag>Tag	p.Q1072*	KIF16B_ENST00000378003.2_Nonsense_Mutation_p.Q298*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.Q1072*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.Q1072*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1072					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTCAGCTGCTGGATTTCATAT	0.428000													58	67					0	0	0.000147903	0	0
SH2D4B	387694	broad.mit.edu	37	10	82331187	82331187	+	Splice_Site	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:82331187G>A	ENST00000339284.2	+	3	778	c.347_splice	c.e3-1	p.W116_splice	SH2D4B_ENST00000470604.2_Splice_Site_p.W115_splice|SH2D4B_ENST00000313455.4_Splice_Site_p.W67_splice	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	115	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CTCTTGGTAGGAGACAGAAGG	0.463000													15	27					0	0	0.000308642	0	0
TMEM143	55260	broad.mit.edu	37	19	48848429	48848429	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:48848429C>T	ENST00000293261.3	-	4	868	c.552G>A	c.(550-552)caG>caA	p.Q184Q	TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000435956.3_Silent_p.Q149Q|TMEM143_ENST00000541566.1_Silent_p.Q74Q|TMEM143_ENST00000377431.2_Intron	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	184						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GGACCTCATCCTGAGGGTGGT	0.637000													15	15					0	0	7.07596e-05	0	0
IPO9	55705	broad.mit.edu	37	1	201823789	201823789	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:201823789C>A	ENST00000361565.4	+	7	826	c.757C>A	c.(757-759)Cag>Aag	p.Q253K		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	253					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TCAGGCCCTCCAGATACCAGA	0.473000													7	153					0.000274275	0.00449329	0.000274275	1	0
FRMD5	84978	broad.mit.edu	37	15	44202087	44202087	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:44202087G>A	ENST00000417257.1	-	5	596	c.420C>T	c.(418-420)atC>atT	p.I140I	FRMD5_ENST00000484674.1_Silent_p.I51I|FRMD5_ENST00000402883.1_Silent_p.I140I	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	140	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TACCTTGAAGGATGTAAGCTG	0.403000													27	29					0	0	0.000409698	0	0
ITGA5	3678	broad.mit.edu	37	12	54793535	54793535	+	Missense_Mutation	SNP	G	G	T	rs142652896		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:54793535G>T	ENST00000293379.4	-	27	2996	c.2735C>A	c.(2734-2736)cCg>cAg	p.P912Q	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	912					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTCAGCCTCCGGGCATTTCTA	0.547000											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	56					0.000602214	0.00964711	0.000602214	1	0
LRRN1	57633	broad.mit.edu	37	3	3886938	3886938	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:3886938G>A	ENST00000319331.3	+	2	1374	c.613G>A	c.(613-615)Gga>Aga	p.G205R	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	205						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)		CCCTGTGATTGGAATTCTGGA	0.418000													45	48					0	0	0.000147903	0	0
NOL10	79954	broad.mit.edu	37	2	10807351	10807351	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:10807351G>A	ENST00000345985.3	-	8	694	c.584C>T	c.(583-585)aCc>aTc	p.T195I	NOL10_ENST00000542668.1_Missense_Mutation_p.T145I|NOL10_ENST00000538384.1_Missense_Mutation_p.T169I|NOL10_ENST00000381685.5_Missense_Mutation_p.T195I	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	195						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TACCTCTATGGTTCCTGTGGC	0.323000													6	8					0	0	0.000157383	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166721	100166721	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:100166721C>T	ENST00000547776.2	-	8	1106	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Silent_p.G369G	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	369						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTCCATTTTTCCCAAGTTCTT	0.408000													28	50					0	0	0.000491102	0	0
GRM7	2917	broad.mit.edu	37	3	7620310	7620310	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:7620310C>T	ENST00000486284.1	+	8	1991	c.1717C>T	c.(1717-1719)Cga>Tga	p.R573*	GRM7_ENST00000402647.2_Nonsense_Mutation_p.R573*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.R573*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.R573*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.R573*|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	573					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CAATGAAAATCGAACCGGATG	0.522000													18	24					0	0	0.000132079	0	0
DOCK10	55619	broad.mit.edu	37	2	225630519	225630519	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:225630519C>T	ENST00000409592.3	-	56	6575	c.6462G>A	c.(6460-6462)gtG>gtA	p.V2154V	DOCK10_ENST00000258390.7_Silent_p.V2160V			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2160							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGGTTTGGTCCACTCCGCGCT	0.488000													18	11					0	0	0.000132079	0	0
AADACL2	344752	broad.mit.edu	37	3	151475314	151475314	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:151475314C>T	ENST00000356517.3	+	5	1247	c.1138C>T	c.(1138-1140)Cca>Tca	p.P380S	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	380						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CATGACTTCACCATTTTATTT	0.338000													26	36					0	0	9.22233e-05	0	0
OR2A5	393046	broad.mit.edu	37	7	143747652	143747652	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:143747652G>A	ENST00000408906.2	+	1	192	c.158G>A	c.(157-159)aGa>aAa	p.R53K		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGGACTCCAGACTGCACACC	0.512000													17	24					0	0	9.7654e-05	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431231	56431231	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:56431231G>A	ENST00000302969.2	+	1	94	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CCCTCAGATGGAGATCATCTT	0.423000													51	10					0	0	0.000147903	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223993	142223993	+	RNA	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:142223993C>T	ENST00000390367.3	-	0	190																											GGCCCTGTCCCAGGATCTGCC	0.488000													17	19					0	0	0.000175454	0	0
TIMP1	7076	broad.mit.edu	37	X	47445095	47445095	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:47445095G>A	ENST00000377018.2	+	3	1028	c.464G>A	c.(463-465)gGg>gAg	p.G155E	TIMP1_ENST00000456754.2_3'UTR|TIMP1_ENST00000377017.1_Intron|TIMP1_ENST00000218388.4_Intron|SYN1_ENST00000295987.7_Intron|SYN1_ENST00000340666.4_Intron			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	0					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						ACCTCCAACGGGAGATCCTTC	0.587000													4	7					0	0	3.59834e-05	0	0
C2orf44	80304	broad.mit.edu	37	2	24261446	24261446	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:24261446C>T	ENST00000295148.4	-	2	976	c.919G>A	c.(919-921)Gac>Aac	p.D307N	C2orf44_ENST00000406895.3_Missense_Mutation_p.D307N	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	307							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAAGTAGTCCTTTTTTCTT	0.378000			T	ALK	NSCLC								29	29					0	0	0.000147802	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316117	38316117	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:38316117C>T	ENST00000311856.4	+	3	554	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	SLC22A13_ENST00000450935.2_Intron	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	169						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGCCACAATCCTGGCGCAGCT	0.637000													9	18					0	0	3.86212e-05	0	0
FYCO1	79443	broad.mit.edu	37	3	46009614	46009614	+	Silent	SNP	C	C	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:46009614C>A	ENST00000296137.2	-	8	1417	c.1212G>T	c.(1210-1212)ggG>ggT	p.G404G	FYCO1_ENST00000535325.1_Silent_p.G404G	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	404					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GAAGCTTCTCCCCTAGCTCCT	0.567000													8	167					0.000157383	0.00260042	0.000157383	1	0
OR13F1	138805	broad.mit.edu	37	9	107266590	107266590	+	Missense_Mutation	SNP	G	G	A	rs138844331		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:107266590G>A	ENST00000334726.2	+	1	136	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16V(1)|p.G16E(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTCTTCCTGGGATTTTTTCAC	0.403000													17	38					0	0	7.07596e-05	0	0
PRSS57	400668	broad.mit.edu	37	19	686951	686951	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:686951C>T	ENST00000329267.7	-	4	648	c.619G>A	c.(619-621)Gac>Aac	p.D207N		NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN	protease, serine, 57	207	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						CTGTGGCTGTCCCCACTGCGG	0.627000													14	13					0	0	0.000219431	0	0
TBX4	9496	broad.mit.edu	37	17	59557523	59557523	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:59557523G>A	ENST00000393853.4	+	8	1027	c.864G>A	c.(862-864)ccG>ccA	p.P288P	TBX4_ENST00000240335.1_Silent_p.P288P|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	288					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P288P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAGCCACACCGGACGTGGGCC	0.637000													57	39					0	0	0.000147903	0	0
DSCAM	1826	broad.mit.edu	37	21	41559187	41559187	+	Splice_Site	SNP	C	C	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr21:41559187C>A	ENST00000400454.1	-	14	3128		c.e14-1			NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule						cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTGGGGGCTCTGTGCCATCA	0.478000													15	2					9.16793e-09	1.55478e-07	0.000566183	1	0
TFDP1	7027	broad.mit.edu	37	13	114288278	114288278	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr13:114288278C>T	ENST00000375370.5	+	7	760	c.548C>T	c.(547-549)tCc>tTc	p.S183F	TFDP1_ENST00000544902.1_Missense_Mutation_p.S88F|TFDP1_ENST00000538138.1_Missense_Mutation_p.S88F|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	183					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			AACATCATCTCCAAGGAGAAG	0.502000										TSP Lung(29;0.18)			9	73					0	0	0.000442599	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129453	3129453	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr20:3129453G>A	ENST00000380266.3	-	2	585	c.264C>T	c.(262-264)gcC>gcT	p.A88A	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	88					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GCAATGTACTGGCCTTAGAGG	0.473000													34	48					0	0	0.000159656	0	0
UNC5C	8633	broad.mit.edu	37	4	96171773	96171773	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr4:96171773G>A	ENST00000453304.1	-	5	988	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	UNC5C_ENST00000504962.1_Missense_Mutation_p.R214W|UNC5C_ENST00000506749.1_Missense_Mutation_p.R214W	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	214	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TAAAAATTCCGATCTTCAACG	0.383000													46	52					0	0	0.000147903	0	0
COL5A3	50509	broad.mit.edu	37	19	10103516	10103516	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:10103516G>A	ENST00000264828.3	-	21	1920	c.1835C>T	c.(1834-1836)cCc>cTc	p.P612L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	612	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCGACCCGTGGGGCCAGGAGA	0.587000													12	12					0	0	0.000422831	0	0
PRDM11	56981	broad.mit.edu	37	11	45246334	45246334	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:45246334C>T	ENST00000263765.4	+	8	1660	c.1411C>T	c.(1411-1413)Cct>Tct	p.P471S	PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Missense_Mutation_p.P437S|PRDM11_ENST00000530656.1_Missense_Mutation_p.P471S			Q9NQV5	PRD11_HUMAN	PR domain containing 11	471										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TGGGAAACTTCCTGAGCCCCC	0.512000													75	11					0	0	0.000147903	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175764	71175764	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:71175764G>A	ENST00000333538.5	+	10	2153	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	507	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTACACCAAGGAAGGCTTCCT	0.632000													36	21					0	0	0.000125731	0	0
ITIH1	3697	broad.mit.edu	37	3	52812485	52812485	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:52812485G>A	ENST00000273283.2	+	3	292	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	ITIH1_ENST00000542827.1_Missense_Mutation_p.E90K	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	90	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CTTCGACCTGGAAATCCCCAA	0.552000													28	43					0	0	0.000491102	0	0
MYO15A	51168	broad.mit.edu	37	17	18023310	18023310	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:18023310A>G	ENST00000205890.5	+	2	1534	c.1196A>G	c.(1195-1197)tAt>tGt	p.Y399C		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	399	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAGGTGCCCTATTTTTACCCG	0.622000													10	28					0	0	0.000151284	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77222236	77222236	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:77222236G>A	ENST00000426126.2	+	10	1756	c.1107G>A	c.(1105-1107)tgG>tgA	p.W369*	ZDHHC17_ENST00000334822.5_Nonsense_Mutation_p.W369*	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	369					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CCAAATTCTGGATGTATGTGA	0.318000													114	158					0	0	0.000147903	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623315	21623315	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:21623315G>A	ENST00000304418.3	-	1	907	c.870C>T	c.(868-870)tcC>tcT	p.S290S		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATGCACAGGTGGAAAATGCCT	0.517000													10	16					0	0	0.000442599	0	0
TLR4	7099	broad.mit.edu	37	9	120475528	120475528	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:120475528C>T	ENST00000355622.6	+	3	1223	c.1122C>T	c.(1120-1122)agC>agT	p.S374S	TLR4_ENST00000394487.4_Silent_p.S334S|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	374					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.S374R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATCTACCAAGCCTTGAGTTTC	0.388000													8	9					0	0	0.000274275	0	0
SYT2	127833	broad.mit.edu	37	1	202571173	202571173	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:202571173C>T	ENST00000367267.1	-	6	838	c.646G>A	c.(646-648)Gag>Aag	p.E216K	SYT2_ENST00000367268.4_Missense_Mutation_p.E216K	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	216	C2 1.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCCCCAAGCTCCTGGTATGGC	0.567000													30	46					0	0	0.000279167	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21543272	21543272	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:21543272C>T	ENST00000298694.4	+	3	1510	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	ARHGEF40_ENST00000298693.3_Silent_p.A461A			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	461					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TCTCTGAAGCCTGTGGGCCTA	0.577000													14	24					0	0	0.000219431	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834907	27834907	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:27834907G>A	ENST00000331442.3	-	1	452	c.401C>T	c.(400-402)cCc>cTc	p.P134L		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	134					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GGCCCCCGCGGGCTTCTTAGC	0.617000													132	19					0	0	0.000147903	0	0
NBPF1	55672	broad.mit.edu	37	1	16921465	16921465	+	Translation_Start_Site	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:16921465G>A	ENST00000430580.2	-	0	461					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTACGATTCGTTTTCTTGTA	0.363000													15	45					0	0	7.07596e-05	0	0
ZNF616	90317	broad.mit.edu	37	19	52618538	52618538	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:52618538G>A	ENST00000600228.1	-	4	2140	c.1879C>T	c.(1879-1881)Cat>Tat	p.H627Y	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TCTCCGGTATGAATTCTCTGA	0.433000													16	25					0	0	0.000422831	0	0
GAB4	128954	broad.mit.edu	37	22	17472893	17472893	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:17472893C>T	ENST00000400588.1	-	2	455	c.348G>A	c.(346-348)caG>caA	p.Q116Q	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	116	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TATAGCCCTTCTGAATCTCCT	0.498000													66	92					0	0	0.000147903	0	0
GLYAT	10249	broad.mit.edu	37	11	58477615	58477615	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:58477615G>A	ENST00000344743.3	-	6	656	c.515C>T	c.(514-516)tCc>tTc	p.S172F	GLYAT_ENST00000278400.3_3'UTR|GLYAT_ENST00000529732.1_Missense_Mutation_p.S172F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	172					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	AACATCCATGGATGAGAGTTT	0.413000													15	1					0	0	0.000566183	0	0
PCDH8	5100	broad.mit.edu	37	13	53418909	53418909	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr13:53418909C>T	ENST00000377942.3	-	3	3202	c.2999G>A	c.(2998-3000)aGg>aAg	p.R1000K	PCDH8_ENST00000338862.4_Missense_Mutation_p.R903K	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1000					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GTAATTGTCCCTGCGCAGAGG	0.582000													5	36					0	0	0.000602214	0	0
ACVR1	90	broad.mit.edu	37	2	158617533	158617533	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:158617533G>A	ENST00000263640.3	-	9	1552	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	ACVR1_ENST00000409283.2_Missense_Mutation_p.R375C|ACVR1_ENST00000410057.2_Missense_Mutation_p.R375C|ACVR1_ENST00000434821.1_Missense_Mutation_p.R375C	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	375	Protein kinase.		R -> P (in FOP; variant phenotype).		BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	p.R375C(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GTGCCCACACGGGGATTGTTC	0.483000													12	12					0	0	0.000308642	0	0
LTBP4	8425	broad.mit.edu	37	19	41128912	41128912	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:41128912T>C	ENST00000308370.7	+	28	3740	c.3740T>C	c.(3739-3741)cTg>cCg	p.L1247P	LTBP4_ENST00000396819.3_Missense_Mutation_p.L1180P|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.L1210P|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.L615P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1248					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTGGAGACCTGAGCCTCCGG	0.617000													8	6					0	0	6.40141e-05	0	0
RBM27	54439	broad.mit.edu	37	5	145613065	145613065	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:145613065T>G	ENST00000265271.5	+	7	1069	c.903T>G	c.(901-903)gaT>gaG	p.D301E	RBM27_ENST00000506502.1_Missense_Mutation_p.D301E	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	301					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGGAAATGATCCCCTAGTTG	0.423000													158	26					0	0	0.000147903	0	0
TLR7	51284	broad.mit.edu	37	X	12905811	12905811	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:12905811G>A	ENST00000380659.3	+	3	2323	c.2184G>A	c.(2182-2184)ctG>ctA	p.L728L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	728					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TCAAGAATCTGATTCTTAAGA	0.418000													41	56					0	0	0.000147903	0	0
XPOT	11260	broad.mit.edu	37	12	64821849	64821849	+	Silent	SNP	C	C	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:64821849C>T	ENST00000332707.5	+	16	2215	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	562	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGAATCCTTTCATTGAGGATA	0.318000													17	25					0	0	9.7654e-05	0	0
ZNF335	63925	broad.mit.edu	37	20	44587939	44587939	+	Silent	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr20:44587939G>A	ENST00000322927.2	-	15	2254	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	ZNF335_ENST00000426788.1_Silent_p.S563S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	718					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGCGACGGCGGGAGGGGGGCT	0.657000													28	27					0	0	0.000147802	0	0
GABRQ	55879	broad.mit.edu	37	X	151818324	151818324	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:151818324G>A	ENST00000370306.2	+	6	750	c.730G>A	c.(730-732)Gag>Aag	p.E244K		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	244						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TACTAGCAAGGAGGTGTATTT	0.498000													32	45					0	0	0.000228196	0	0
GPR88	54112	broad.mit.edu	37	1	101004950	101004950	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:101004950delC	ENST00000315033.4	+	2	867	c.428delC	c.(427-429)acfs	p.T143fs		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	143						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		CTGCTCATCACCCGGGCGCCC	0.721													2	4	---	---	---	---					
RIT1	6016	broad.mit.edu	37	1	155870237	155870237	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:155870237delT	ENST00000368323.3	-	6	806	c.602delA	c.(601-603)acfs	p.N201fs	RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs|RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	201					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CCATACACTGTTTTTGGGCTT	0.413													7	751	---	---	---	---					
SLC4A10	57282	broad.mit.edu	37	2	162807241	162807241	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:162807241delA	ENST00000375514.5	+	19	2654	c.2367delA	c.(2365-2367)ccfs	p.P789fs	SLC4A10_ENST00000446997.1_Frame_Shift_Del_p.P808fs|SLC4A10_ENST00000421911.1_Frame_Shift_Del_p.P808fs|SLC4A10_ENST00000415876.2_Frame_Shift_Del_p.P778fs|SLC4A10_ENST00000272716.5_Frame_Shift_Del_p.P778fs	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	808					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTTAGGTCCAAACCCATGGT	0.388													2	4	---	---	---	---					
BAZ2A	11176	broad.mit.edu	37	12	57005698	57005698	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:57005698delA	ENST00000179765.5	-	7	1577	c.1378delT	c.(1378-1380)ccfs	p.S460fs	BAZ2A_ENST00000551812.1_Frame_Shift_Del_p.S492fs|BAZ2A_ENST00000549884.1_Frame_Shift_Del_p.S490fs|BAZ2A_ENST00000379441.3_Frame_Shift_Del_p.S462fs			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	492					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCTTTTGGGGATGTCACTGAA	0.537													10	9	---	---	---	---					
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													5	8	---	---	---	---					
MYBBP1A	10514	broad.mit.edu	37	17	4453361	4453362	+	In_Frame_Ins	INS	-	-	GAT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:4453361_4453362insGAT	ENST00000254718.4	-	9	1616_1617	c.1310_1311insATC	c.(1309-1311)tct>tATCct	p.437_437S>YP	MYBBP1A_ENST00000381556.2_In_Frame_Ins_p.437_437S>YP			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	437	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACATGTGGAGCGATGAATCCTG	0.589													36	84	---	---	---	---					
CTC-513N18.6	0	broad.mit.edu	37	19	20634038	20634039	+	RNA	DEL	TG	TG	-			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:20634038_20634039delTG	ENST00000598131.1	+	0	160																											TTAGTAAAAATGTGTGTGTGTG	0.401													7	19	---	---	---	---					
MEGF8	1954	broad.mit.edu	37	19	42862308	42862309	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:42862308_42862309insCT	ENST00000334370.4	+	28	5458_5459	c.4823_4824insCT	c.(4822-4824)ctcfs	p.L1608fs	MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.L1675fs	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1675						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTCTATGGTCACTCTGCTGTCT	0.653													2	4	---	---	---	---					
ZNF841	284371	broad.mit.edu	37	19	52569243	52569243	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:52569243delC	ENST00000389534.4	-	7	2351	c.1892delG	c.(1891-1893)gcfs	p.G631fs	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000426391.2_Frame_Shift_Del_p.G515fs|ZNF841_ENST00000594295.1_Frame_Shift_Del_p.G631fs	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GAAGACCTTGCCGCATTCGTT	0.423													44	131	---	---	---	---					
MIR3648-1	100500862	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs3052281		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr21:9825838_9825839insGCG	ENST00000581792.1	+	0	7_8					NR_037421.1																						cggccgcgactgcggcggcggt	0.842													5	10	---	---	---	---					
DENND6B	414918	broad.mit.edu	37	22	50754836	50754836	+	Frame_Shift_Del	DEL	G	G	-	rs146906468	by1000genomes	TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:50754836delG	ENST00000413817.2	-	6	593	c.522delC	c.(520-522)ccfs	p.P174fs		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		CAAAGTACTCGGGGGCGATGA	0.637													2	4	---	---	---	---