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
MMRN1	22915	broad.mit.edu	37	4	90874520	90874520	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:90874520A>C	ENST00000394980.1	+	9	3957	c.3638A>C	c.(3637-3639)aAg>aCg	p.K1213T	MMRN1_ENST00000508372.1_Missense_Mutation_p.K955T|MMRN1_ENST00000264790.2_Missense_Mutation_p.K1213T|MMRN1_ENST00000394981.1_Missense_Mutation_p.K516T			Q13201	MMRN1_HUMAN	multimerin 1	1213	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATTCCAGCCAAGTTTCCCCCT	0.363000													22	64					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72976888	72976888	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:72976888A>C	ENST00000553530.1	+	14	1199	c.992A>C	c.(991-993)aAa>aCa	p.K331T	RGS6_ENST00000554782.1_Missense_Mutation_p.K192T|RGS6_ENST00000556437.1_Missense_Mutation_p.K331T|RGS6_ENST00000434263.2_Missense_Mutation_p.K262T|RGS6_ENST00000406236.4_Missense_Mutation_p.K331T|RGS6_ENST00000355512.6_Missense_Mutation_p.K331T|RGS6_ENST00000553525.1_Missense_Mutation_p.K331T|RGS6_ENST00000407322.4_Missense_Mutation_p.K331T|RGS6_ENST00000343854.6_Missense_Mutation_p.K294T|RGS6_ENST00000555571.1_Missense_Mutation_p.K331T|RGS6_ENST00000404301.2_Missense_Mutation_p.K331T|RGS6_ENST00000402788.2_Missense_Mutation_p.K331T	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	331					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGCGAGTAAAAAGATGGGGC	0.468000													18	162					0	0	1	0	0
BPHL	670	broad.mit.edu	37	6	3127533	3127533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:3127533C>A	ENST00000380368.2	+	4	862	c.218C>A	c.(217-219)aCg>aAg	p.T73K	BPHL_ENST00000380379.5_Missense_Mutation_p.T90K|BPHL_ENST00000380375.3_Missense_Mutation_p.T73K|BPHL_ENST00000434640.1_Missense_Mutation_p.T73K			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	90					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AAGCTCTTCACGGTGGTCGCC	0.493000													8	82					0.000157383	0.000176531	1	1	0
BMS1	9790	broad.mit.edu	37	10	43326451	43326451	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:43326451G>C	ENST00000374518.4	+	23	3819	c.3756G>C	c.(3754-3756)aaG>aaC	p.K1252N		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1252					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCGGCAGAAGGACCTCAGGA	0.527000													4	16					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152757200	152757200	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:152757200C>A	ENST00000367255.5	-	33	4787	c.4186G>T	c.(4186-4188)Gct>Tct	p.A1396S	SYNE1_ENST00000413186.2_Missense_Mutation_p.A1396S|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1403S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1403S|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1396S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1462S|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1386S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1396S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1396					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGTTCTCAGCCTGGACTGCA	0.388000										HNSCC(10;0.0054)			8	67					0.00307968	0.00326084	1	1	0
CARD11	84433	broad.mit.edu	37	7	2984046	2984046	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:2984046C>T	ENST00000396946.4	-	5	887	c.484G>A	c.(484-486)Gag>Aag	p.E162K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	162					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGCTTCTTCTCATCCTCCAGC	0.577000			Mis		DLBCL								34	78					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65119459	65119459	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:65119459C>T	ENST00000371073.2	+	11	1559	c.1559C>T	c.(1558-1560)cCa>cTa	p.P520L	CACHD1_ENST00000290039.5_Missense_Mutation_p.P469L|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	520	Cache 1.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTTATGCACCCATCTCTTACC	0.338000													13	211					0	0	1	0	0
TLDC2	140711	broad.mit.edu	37	20	35515916	35515916	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:35515916T>C	ENST00000217320.3	+	5	541	c.497T>C	c.(496-498)aTg>aCg	p.M166T	TLDC2_ENST00000602922.1_Missense_Mutation_p.M166T	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		GATTCACTGATGATGGGCAGT	0.542000											OREG0025911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	111					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238725845	238725845	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:238725845C>T	ENST00000316997.4	+	3	418	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Nonsense_Mutation_p.Q96*	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	95							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TACTCAGTTTCAGTCAAGTGA	0.318000													16	47					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971108	21971108	+	Missense_Mutation	SNP	C	C	T	rs11552822		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:21971108C>T	ENST00000579755.1	-	2	585	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D84N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R98Q|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R139Q|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33N			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			H -> P (in CMM2).|H -> Q (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D84Y(11)|p.D84N(7)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.R139Q(2)|p.D84fs*1(1)|p.D84_F90del(1)|p.R139L(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGCAGCGTCGTGCACGGGT	0.741000	D84Y(DU145_PROSTATE)|D84Y(LK2_LUNG)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	16					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050182	42050182	+	Missense_Mutation	SNP	G	G	T	rs142189176		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:42050182G>T	ENST00000372584.1	-	3	1301	c.287C>A	c.(286-288)cCg>cAg	p.P96Q	HIVEP3_ENST00000372583.1_Missense_Mutation_p.P96Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P96Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P96Q	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	96					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGGTGCTGCGGAAGCTGTGA	0.587000													63	183					1.35869e-18	2.20104e-18	1	1	0
SPDYE3	441272	broad.mit.edu	37	7	99912179	99912179	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:99912179C>A	ENST00000332397.6	+	6	1191	c.1007C>A	c.(1006-1008)cCg>cAg	p.P336Q	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	336										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CCCAGCCCCCCGCGTAGGTCC	0.577000													38	76					1.03484e-13	1.55844e-13	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11364993	11364993	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:11364993C>T	ENST00000304623.8	-	8	1376	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R305Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.R59Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.R396Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	396					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTATGAGGCTCGGGAACCAGC	0.488000													7	76					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97022202	97022202	+	Silent	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:97022202A>T	ENST00000216277.8	+	18	1903	c.1683A>T	c.(1681-1683)ccA>ccT	p.P561P	PAPOLA_ENST00000392990.2_Silent_p.P561P	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	561	Ser/Thr-rich.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GTCCTGCTCCAGCTGTAACAG	0.323000													8	97					0	0	1	0	0
MIR31HG	554202	broad.mit.edu	37	9	21455696	21455696	+	RNA	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:21455696C>T	ENST00000304425.3	-	0	689					NR_027054.1																						CAGCCAGTTGCAGAAGGCCCA	0.502000													3	18					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52054022	52054022	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:52054022C>A	ENST00000340057.1	+	3	445	c.400C>A	c.(400-402)Cgg>Agg	p.R134R		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	134					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CAACTCCTTCCGGCTGGAGAA	0.602000													11	65					6.40141e-05	7.34365e-05	1	1	0
PRKAG1	5571	broad.mit.edu	37	12	49398789	49398789	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:49398789T>A	ENST00000548065.1	-	7	824	c.368A>T	c.(367-369)cAg>cTg	p.Q123L	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q72L|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q39L|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q91L|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q132L			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	123					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						AAAGGAGTCCTGGAGATACAC	0.463000													44	73					0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33469093	33469093	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:33469093C>A	ENST00000442241.4	-	2	106	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.D23Y|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	23						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CCGCCCTCATCCTGGAACTGC	0.687000													7	20					0.00448238	0.00471961	1	1	0
ACE	1636	broad.mit.edu	37	17	61557855	61557855	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:61557855C>A	ENST00000290866.4	+	5	837	c.813C>A	c.(811-813)atC>atA	p.I271I	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.I271I|ACE_ENST00000538928.1_Silent_p.I271I	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	271	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACAGATACATCAACCTCAGGG	0.612000													22	96					0.000375601	0.000412125	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92730776	92730776	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:92730776G>C	ENST00000379958.2	-	3	4904	c.4635C>G	c.(4633-4635)atC>atG	p.I1545M		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1545						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTTCATTGATTCCATATT	0.388000													19	73					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20370884	20370884	+	Missense_Mutation	SNP	C	C	G	rs148051428		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:20370884C>G	ENST00000302451.4	-	12	1760	c.1512G>C	c.(1510-1512)ttG>ttC	p.L504F		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	504					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCTCAACAGACAACAGCTATG	0.443000													13	84					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31359339	31359339	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:31359339C>A	ENST00000542188.1	-	5	909	c.596G>T	c.(595-597)aGa>aTa	p.R199I	TRPM1_ENST00000256552.6_Missense_Mutation_p.R182I|TRPM1_ENST00000397795.2_Missense_Mutation_p.R160I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	160					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AACCCGGCCTCTGGACTTGGA	0.488000													14	89					2.62699e-14	4.00404e-14	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99753654	99753654	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:99753654C>A	ENST00000370185.3	+	2	853	c.356C>A	c.(355-357)gCa>gAa	p.A119E	LPPR4_ENST00000457765.1_Missense_Mutation_p.A119E	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		119							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ACCCAGGAGGCAATTCCATTC	0.438000													32	97					8.16721e-17	1.29172e-16	1	1	0
SHOX2	6474	broad.mit.edu	37	3	157823778	157823778	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:157823778A>G	ENST00000389589.4	-	1	171	c.36T>C	c.(34-36)ttT>ttC	p.F12F	RSRC1_ENST00000480820.1_5'UTR|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000425436.3_Silent_p.F12F|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_Silent_p.F12F	NM_003030.4	NP_003021.3	O60902	SHOX2_HUMAN	short stature homeobox 2	12					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTTTCTGGTCAAAAGACTTGG	0.627000													14	54					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188604	32188604	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:32188604T>C	ENST00000375023.3	-	5	989	c.851A>G	c.(850-852)cAg>cGg	p.Q284R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	284	EGF-like 7; calcium-binding (Potential).		Q -> H (in dbSNP:rs520803).		cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATTCTGACACTGGTGGCTGAC	0.557000													14	117					0	0	1	0	0
LOC349160	349160	broad.mit.edu	37	7	136848872	136848872	+	RNA	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:136848872G>T	ENST00000439694.1	-	0	164				AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000599888.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000597642.1_RNA																							GTCTACCTGAGGCTGTTGGTC	0.498000													6	25					0.0215528	0.0220486	1	1	0
FYB	2533	broad.mit.edu	37	5	39202342	39202342	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:39202342C>T	ENST00000351578.6	-	2	911	c.721G>A	c.(721-723)Gca>Aca	p.A241T	FYB_ENST00000505428.1_Missense_Mutation_p.A241T|FYB_ENST00000540520.1_Missense_Mutation_p.A251T|FYB_ENST00000515010.1_Missense_Mutation_p.A241T|FYB_ENST00000512982.1_Missense_Mutation_p.A241T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	241					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCTTCCCTTGCTGGTTTTAAA	0.522000													238	84					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974241	35974241	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:35974241G>T	ENST00000297866.5	+	8	1404	c.1338G>T	c.(1336-1338)acG>acT	p.T446T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	446										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTCCTGTGACGTACCACTTTA	0.353000													14	33					4.3838e-07	5.53281e-07	1	1	0
WFIKKN2	124857	broad.mit.edu	37	17	48916967	48916967	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:48916967C>A	ENST00000311378.4	+	2	846	c.318C>A	c.(316-318)ccC>ccA	p.P106P	WFIKKN2_ENST00000426127.1_Silent_p.P13P	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	106						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGGGCATGCCCAAGGAGGCCA	0.587000													9	25					0.000274275	0.000301384	1	1	0
SRRM3	222183	broad.mit.edu	37	7	75894095	75894095	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:75894095C>T	ENST00000388802.4	+	9	896	c.687C>T	c.(685-687)tcC>tcT	p.S229S	SRRM3_ENST00000326382.8_Silent_p.S229S					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CTCGAAGCTCCAAGTGCAAAA	0.572000													12	37					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	402006	402006	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:402006T>A	ENST00000256509.2	+	12	1847	c.1205T>A	c.(1204-1206)aTc>aAc	p.I402N	CHL1_ENST00000397491.2_Missense_Mutation_p.I386N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	386	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.I402N(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCCAGGGAAATCAGTTTTACC	0.388000													16	81					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777145	123777145	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:123777145G>T	ENST00000321355.2	+	1	37	c.7G>T	c.(7-9)Gta>Tta	p.V3L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AAGAATGGGTGTAAAAAACCA	0.378000													27	80					2.79863e-10	3.90363e-10	1	1	0
TBC1D9	23158	broad.mit.edu	37	4	141555266	141555266	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:141555266A>C	ENST00000442267.2	-	16	2656	c.2582T>G	c.(2581-2583)cTg>cGg	p.L861R		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	861						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATACTGTTCCAGGTAGGGCAG	0.552000													12	46					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155851068	155851068	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:155851068G>C	ENST00000368324.4	+	4	1318	c.1065G>C	c.(1063-1065)ttG>ttC	p.L355F	SYT11_ENST00000539162.1_Missense_Mutation_p.L48F	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	355	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AGTGCACTTTGAACCCCATCT	0.483000													138	421					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640545	99640545	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:99640545G>A	ENST00000547776.2	-	13	1853	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Silent_p.S618S|ANKS1B_ENST00000547010.1_Silent_p.S198S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	618						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)		GATTTTCAGGGGACTCACAGG	0.468000													17	144					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31614183	31614183	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:31614183T>A	ENST00000319386.3	+	7	1418	c.425T>A	c.(424-426)aTa>aAa	p.I142K	CCDC129_ENST00000407970.3_Missense_Mutation_p.I142K|CCDC129_ENST00000409210.1_Missense_Mutation_p.I50K|CCDC129_ENST00000451887.2_Missense_Mutation_p.I168K|CCDC129_ENST00000482748.1_3'UTR			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	142										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTTTGGGAGATAGATCCAGTG	0.448000													27	182					0	0	1	0	0
HARS2	23438	broad.mit.edu	37	5	140077256	140077256	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:140077256G>T	ENST00000230771.3	+	11	1523	c.1300G>T	c.(1300-1302)Gat>Tat	p.D434Y	HARS2_ENST00000448069.2_Missense_Mutation_p.D262Y|HARS2_ENST00000437649.2_Missense_Mutation_p.D360Y|HARS2_ENST00000435019.2_Missense_Mutation_p.D394Y|HARS2_ENST00000508522.1_Missense_Mutation_p.D409Y|HARS2_ENST00000432671.2_Missense_Mutation_p.D320Y	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	434					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity	p.D434N(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCTTTGGGATTCTGGAAT	0.473000													44	86					1.62263e-30	2.8528e-30	1	1	0
MYOF	26509	broad.mit.edu	37	10	95168668	95168668	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:95168668C>T	ENST00000371501.4	-	7	727	c.605G>A	c.(604-606)cGc>cAc	p.R202H	MYOF_ENST00000358334.5_Missense_Mutation_p.R202H|MYOF_ENST00000371502.4_Missense_Mutation_p.R202H|MYOF_ENST00000371489.1_Missense_Mutation_p.R202H|MYOF_ENST00000359263.4_Missense_Mutation_p.R202H			Q9NZM1	MYOF_HUMAN	myoferlin	202	C2 2.|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CACTCGGACGCGGATCTGCAG	0.507000													10	79					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977627	107977627	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:107977627C>A	ENST00000372129.2	-	1	2024	c.1948G>T	c.(1948-1950)Ggg>Tgg	p.G650W		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	650						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AATCTTCCCCCAGACTTCCCT	0.498000													57	131					4.54978e-40	8.17016e-40	1	1	0
EFNA1	1942	broad.mit.edu	37	1	155106462	155106462	+	Silent	SNP	C	C	A	rs11545254		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:155106462C>A	ENST00000368407.3	+	5	1055	c.537C>A	c.(535-537)atC>atA	p.I179I	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Silent_p.I157I	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	179					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TACATAGCATCGGTCACAGTG	0.582000													7	18					0.0381472	0.0387625	1	1	0
RIF1	55183	broad.mit.edu	37	2	152320091	152320091	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:152320091G>C	ENST00000243326.4	+	29	4540	c.4057G>C	c.(4057-4059)Gac>Cac	p.D1353H	RIF1_ENST00000428287.2_Missense_Mutation_p.D1353H|RIF1_ENST00000453091.2_Missense_Mutation_p.D1353H|RIF1_ENST00000430328.2_Missense_Mutation_p.D1353H|RIF1_ENST00000444746.2_Missense_Mutation_p.D1353H			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1353					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATGGAGCATGACAATACAAA	0.343000													21	66					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681097	106681097	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:106681097T>C	ENST00000526355.1	-	5	1782	c.1314A>G	c.(1312-1314)ctA>ctG	p.L438L	GUCY1A2_ENST00000282249.2_Silent_p.L438L|GUCY1A2_ENST00000347596.2_Silent_p.L459L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	438					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.L438L(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CTGAGAGATGTAGCCCTCGGC	0.448000													21	88					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39597091	39597091	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:39597091A>G	ENST00000246646.3	-	1	82	c.83T>C	c.(82-84)aTc>aCc	p.I28T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	28	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CCCAATGTCGATGGGAGAGAC	0.602000													13	65					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141751666	141751666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:141751666C>A	ENST00000389484.3	-	16	3513	c.2542G>T	c.(2542-2544)Gga>Tga	p.G848*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	848	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGAAACTCTCCAGCTTTACAT	0.418000										TSP Lung(27;0.18)			5	117					0.014758	0.015159	1	1	0
DSC2	1824	broad.mit.edu	37	18	28648052	28648052	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:28648052C>G	ENST00000280904.6	-	16	3078	c.2635G>C	c.(2635-2637)Gat>Cat	p.D879H	DSC2_ENST00000251081.6_3'UTR	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	879					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCAAGCCCATCTTCTTCTTGT	0.428000													9	65					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424280	125424280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:125424280G>T	ENST00000373686.1	+	1	436	c.436G>T	c.(436-438)Gag>Tag	p.E146*				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CTCTTACAGTGAGTGTCTGAC	0.433000													38	232					3.93418e-24	6.68369e-24	1	1	0
CDCA7	83879	broad.mit.edu	37	2	174223566	174223566	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:174223566G>T	ENST00000306721.3	+	2	250		c.e2+1		CDCA7_ENST00000392567.2_Splice_Site|CDCA7_ENST00000347703.3_Splice_Site|CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000410101.3_Splice_Site	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7						regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TGCAAACACGGTAAGTGCTGC	0.403000													19	67					2.94398e-08	3.90465e-08	1	1	0
ADAM30	11085	broad.mit.edu	37	1	120437773	120437773	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:120437773C>T	ENST00000369400.1	-	1	1345	c.1187G>A	c.(1186-1188)gGt>gAt	p.G396D		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	396					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAGCACATAACCTAGTCCTGG	0.418000													19	213					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12952352	12952352	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:12952352C>T	ENST00000276297.4	-	12	3851	c.3442G>A	c.(3442-3444)Gac>Aac	p.D1148N	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.D711N|DLC1_ENST00000520226.1_Missense_Mutation_p.D637N|DLC1_ENST00000512044.2_Missense_Mutation_p.D745N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1148	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTCAGCATGTCTGCCACGTCA	0.473000													5	34					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86521071	86521071	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:86521071A>T	ENST00000450689.2	-	21	3184	c.2999T>A	c.(2998-3000)cTa>cAa	p.L1000Q	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.L760Q|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.L929Q|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.L833Q	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	1000						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TTTTCCTAGTAGTGACTGTTT	0.378000													10	104					0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106142289	106142289	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:106142289G>T	ENST00000329625.5	+	4	386	c.108G>T	c.(106-108)atG>atT	p.M36I	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000375936.3_Missense_Mutation_p.M107I			P59103	DAOA_HUMAN	D-amino acid oxidase activator	107						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					aagtcttcatggcaagaaact	0.493000													11	34					1.58986e-06	1.93237e-06	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198966032	198966032	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:198966032C>A	ENST00000428675.1	+	4	3341	c.2943C>A	c.(2941-2943)ctC>ctA	p.L981L	PLCL1_ENST00000437704.2_Silent_p.L883L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	981					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCCGGTTTCTCATAGAAATGG	0.358000													19	108					2.37509e-13	3.54856e-13	1	1	0
MAP3K19	80122	broad.mit.edu	37	2	135738894	135738894	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:135738894G>A	ENST00000375845.3	-	9	3447	c.3417C>T	c.(3415-3417)ttC>ttT	p.F1139F	MAP3K19_ENST00000375844.3_Silent_p.F321F|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Silent_p.F271F|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392918.3_Silent_p.F273F|MAP3K19_ENST00000358371.4_Silent_p.F1026F	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CAAACTCCATGAAAATGCTCA	0.408000													13	154					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104317049	104317049	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:104317049A>T	ENST00000389120.3	+	15	2183	c.2093A>T	c.(2092-2094)gAg>gTg	p.E698V		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	698					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ATGGCTGATGAGGATGCCTTG	0.423000													6	37					0	0	1	0	0
ADSS	159	broad.mit.edu	37	1	244574692	244574692	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:244574692G>A	ENST00000366535.3	-	12	1531	c.1215C>T	c.(1213-1215)ctC>ctT	p.L405L		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	405					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TCCATCCTGGGAGAGTCTTAT	0.343000													18	167					0	0	1	0	0
CHMP1A	5119	broad.mit.edu	37	16	89712461	89712461	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:89712461C>A	ENST00000253475.5	-	6	716	c.584G>T	c.(583-585)cGg>cTg	p.R195L	CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000535997.2_3'UTR	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	0					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CGGTGCACACCGGCGGGGCAC	0.692000													7	26					0.00448238	0.00471961	1	1	0
PKD1	5310	broad.mit.edu	37	16	2160655	2160655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:2160655C>A	ENST00000262304.4	-	15	4721	c.4513G>T	c.(4513-4515)Ggt>Tgt	p.G1505C	PKD1_ENST00000423118.1_Missense_Mutation_p.G1505C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1505	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCCACCCACCGTCCCCCAGA	0.662000													28	43					4.31634e-10	5.97647e-10	1	1	0
MDC1	9656	broad.mit.edu	37	6	30673394	30673394	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:30673394C>A	ENST00000376406.3	-	10	4213	c.3566G>T	c.(3565-3567)gGa>gTa	p.G1189V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.G925V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1189	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ACTTTTTCTTCCCCTAGTAAC	0.572000								Other conserved DNA damage response genes					25	303					5.35356e-11	7.6364e-11	1	1	0
FAM102A	399665	broad.mit.edu	37	9	130710649	130710649	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:130710649C>T	ENST00000373095.1	-	5	834	c.459G>A	c.(457-459)aaG>aaA	p.K153K	FAM102A_ENST00000373084.4_Silent_p.K11K|FAM102A_ENST00000300434.3_Intron	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	153										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GCACTCACGTCTTGAAGCAGG	0.617000													18	54					0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192544947	192544947	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:192544947C>G	ENST00000367459.3	+	1	91	c.25C>G	c.(25-27)Cca>Gca	p.P9A	RGS1_ENST00000469578.2_Missense_Mutation_p.P9A	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	9					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				CATCTCCACTCCAAAGTTAGA	0.443000													11	84					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27497332	27497332	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:27497332T>A	ENST00000396271.3	-	10	1373	c.1247A>T	c.(1246-1248)cAg>cTg	p.Q416L	ACBD5_ENST00000375897.3_Missense_Mutation_p.Q239L|ACBD5_ENST00000375901.1_Missense_Mutation_p.Q307L|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.Q381L|ACBD5_ENST00000375888.1_Missense_Mutation_p.Q425L	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	425					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ACTTCCCACCTGCCGGCCCTT	0.507000													29	56					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747560	121747560	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:121747560G>T	ENST00000452319.1	+	14	4130	c.4070G>T	c.(4069-4071)gGc>gTc	p.G1357V	GLI2_ENST00000361492.4_Missense_Mutation_p.G1357V|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1357					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1357V(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCCCAAACAGGCCCGATGGGG	0.692000													10	10					0.000978159	0.00105041	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79300930	79300930	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:79300930A>T	ENST00000264895.6	+	27	3783	c.3343A>T	c.(3343-3345)Att>Ttt	p.I1115F	FRAS1_ENST00000325942.6_Missense_Mutation_p.I1115F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1114					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GATCCTCCCAATTGGTTCAAT	0.438000													11	45					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62131673	62131673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:62131673G>T	ENST00000433197.2	-	15	1985	c.1890C>A	c.(1888-1890)tgC>tgA	p.C630*		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	630	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTCTCCGTGCAGAAGTAGC	0.493000													4	16					0.184627	0.185857	1	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125876333	125876333	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:125876333A>G	ENST00000393434.2	-	4	730	c.381T>C	c.(379-381)gaT>gaC	p.D127D	ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000393431.2_Silent_p.D127D|ALDH1L1_ENST00000472186.1_Silent_p.D127D|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000273450.3_Silent_p.D137D	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	127	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCCTTTCTTATCTCCGTGAA	0.587000													6	75					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169993	32169993	+	Silent	SNP	C	C	A	rs61729678		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:32169993C>A	ENST00000375023.3	-	21	3753	c.3615G>T	c.(3613-3615)ctG>ctT	p.L1205L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1205					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGGGACTCCCAGAGAGCAGT	0.652000													18	71					3.32936e-07	4.21607e-07	1	1	0
ABTB2	25841	broad.mit.edu	37	11	34173997	34173997	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:34173997C>T	ENST00000435224.2	-	17	3439	c.3015G>A	c.(3013-3015)ctG>ctA	p.L1005L	ABTB2_ENST00000298992.2_Silent_p.L819L	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	819							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)				GCAGGTCCTGCAGTGGATCCA	0.647000													4	4					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22748966	22748966	+	RNA	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:22748966G>T	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAAAAATGGGGTTACTCCCAT	0.368000													11	137					1.58986e-06	1.93237e-06	1	1	0
SLC5A4	6527	broad.mit.edu	37	22	32614704	32614704	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr22:32614704C>A	ENST00000266086.4	-	15	1788	c.1777G>T	c.(1777-1779)Gag>Tag	p.E593*	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	593					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CGTGATTTCTCAGGATAATCT	0.418000													28	42					2.79863e-10	3.90363e-10	1	1	0
MDC1	9656	broad.mit.edu	37	6	30679203	30679203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:30679203C>A	ENST00000376406.3	-	7	2854	c.2207G>T	c.(2206-2208)aGc>aTc	p.S736I	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S736I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	736				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGTCTGGAAGCTGCAATGGGA	0.502000								Other conserved DNA damage response genes					11	38					0.000978159	0.00105041	1	1	0
RAB39B	116442	broad.mit.edu	37	X	154490296	154490296	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:154490296T>C	ENST00000369454.3	-	2	734	c.434A>G	c.(433-435)tAc>tGc	p.Y145C		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	145					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTTCATGCCGTATGCAGCAGC	0.498000													35	27					0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926316	22926316	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:22926316C>A	ENST00000261374.3	+	2	971	c.537C>A	c.(535-537)ccC>ccA	p.P179P		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	179	Substrate binding (By similarity).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGAAGACGCCCAGCTACTTTG	0.567000													35	55					1.08052e-11	1.5619e-11	1	1	0
SLC25A24	29957	broad.mit.edu	37	1	108728465	108728465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:108728465C>A	ENST00000565488.1	-	2	514	c.295G>T	c.(295-297)Gac>Tac	p.D99Y	SLC25A24_ENST00000370041.4_Missense_Mutation_p.D80Y	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	99	EF-hand 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TTATTTTTGTCTAAACTCTTA	0.318000													4	24					0.00909568	0.00943256	1	1	0
PABPC1	26986	broad.mit.edu	37	8	101719186	101719186	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:101719186G>A	ENST00000318607.5	-	10	2504	c.1376C>T	c.(1375-1377)cCt>cTt	p.P459L	PABPC1_ENST00000522387.1_Missense_Mutation_p.P427L|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.P414L	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	459					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGGTGGTCTAGGAGCAGCTGG	0.413000													9	59					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670029	8670029	+	Missense_Mutation	SNP	G	G	T	rs141630862		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:8670029G>T	ENST00000270328.4	-	3	569	c.303C>A	c.(301-303)caC>caA	p.H101Q	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.H101Q			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	101					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCACGGAGACGTGCCCTGCCA	0.697000													6	26					0.0215528	0.0220486	1	1	0
SORCS1	114815	broad.mit.edu	37	10	108366923	108366923	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:108366923C>A	ENST00000263054.6	-	23	3173		c.e23+1		SORCS1_ENST00000344440.6_Splice_Site|SORCS1_ENST00000478809.2_Splice_Site|SORCS1_ENST00000369698.1_Splice_Site	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1							integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGGGGACTCACCTGCTCCAGG	0.498000													7	50					8.12818e-05	9.24046e-05	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113293524	113293524	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:113293524A>T	ENST00000297405.5	-	59	9631	c.9387T>A	c.(9385-9387)gaT>gaA	p.D3129E	CSMD3_ENST00000352409.3_Missense_Mutation_p.D3059E|CSMD3_ENST00000455883.2_Missense_Mutation_p.D2960E|CSMD3_ENST00000343508.3_Missense_Mutation_p.D3089E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3129	Sushi 23.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGTTGTGCCATCAATTCGGA	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	54					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179543515	179543515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:179543515G>T	ENST00000589042.1	-	143	34009	c.33785C>A	c.(33784-33786)cCa>cAa	p.P11262Q	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10018Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10945Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10945	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTGGTACTGGTACTTTCTC	0.368000													15	71					4.14922e-12	6.04395e-12	1	1	0
LSP1	4046	broad.mit.edu	37	11	1908785	1908785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:1908785G>T	ENST00000406638.2	+	10	2128	c.826G>T	c.(826-828)Gct>Tct	p.A276S	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.A338S|LSP1_ENST00000381775.1_Missense_Mutation_p.A466S|LSP1_ENST00000405957.2_Missense_Mutation_p.A276S	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	338					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGGGGGCCCGGCTCCCTAGGC	0.592000													6	28					5.9392e-07	7.42155e-07	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768453	77768453	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:77768453C>A	ENST00000521891.2	+	10	9744	c.9296C>A	c.(9295-9297)cCc>cAc	p.P3099H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3073H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3054H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3054H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3054	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACAGCCTACCCCGGACTCCCC	0.542000										HNSCC(33;0.089)			5	96					0.0293803	0.0299751	1	1	0
TRAPPC11	60684	broad.mit.edu	37	4	184606247	184606247	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:184606247G>A	ENST00000334690.6	+	16	1780	c.1578G>A	c.(1576-1578)ctG>ctA	p.L526L	TRAPPC11_ENST00000512476.1_Silent_p.L132L|TRAPPC11_ENST00000357207.4_Silent_p.L526L	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	526																	CTTCAACTCTGAAAGATGACC	0.294000													10	40					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15500789	15500789	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:15500789G>T	ENST00000504595.1	+	1	485	c.4G>T	c.(4-6)Ggc>Tgc	p.G2C		NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	2					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTACAGGATGGGCGCGAACAA	0.697000													27	195					1.55811e-20	2.61763e-20	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201009108	201009108	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:201009108C>G	ENST00000362061.3	-	44	5699	c.5473G>C	c.(5473-5475)Gtg>Ctg	p.V1825L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V1806L|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1825					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGATCTCCACTTCCTCTGGT	0.612000													38	140					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86378436	86378436	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:86378436G>C	ENST00000410111.3	-	12	1772	c.1385C>G	c.(1384-1386)gCt>gGt	p.A462G	IMMT_ENST00000442664.2_Missense_Mutation_p.A461G|IMMT_ENST00000254636.5_Missense_Mutation_p.A363G|IMMT_ENST00000409051.2_Missense_Mutation_p.A415G|IMMT_ENST00000449247.2_Missense_Mutation_p.A451G	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	462						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTCCTGTTCAGCCTGTATTTC	0.398000													3	43					0	0	1	0	0
GSTM3	2947	broad.mit.edu	37	1	110280799	110280799	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:110280799C>T	ENST00000540225.1	-	6	596	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	GSTM3_ENST00000256594.3_Missense_Mutation_p.E96K|GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000361066.2_Missense_Mutation_p.E96K|RP4-735C1.4_ENST00000431955.1_RNA			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	96	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	ATCTTTTCTTCTTCAGTCTCA	0.488000													7	50					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262394	7262394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:7262394G>T	ENST00000361972.4	-	11	1399	c.1309C>A	c.(1309-1311)Cta>Ata	p.L437I	SFMBT2_ENST00000397167.1_Missense_Mutation_p.L437I	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	437					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGCCACATTAGCCGCCCCTTC	0.532000													41	228					1.59932e-28	2.79235e-28	1	1	0
PCDHB6	56130	broad.mit.edu	37	5	140530172	140530172	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:140530172C>A	ENST00000231136.1	+	1	334	c.334C>A	c.(334-336)Ccc>Acc	p.P112T	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		112	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGGAAAACCCCTTGCAGTT	0.473000													11	58					3.86212e-05	4.45765e-05	1	1	0
LOC101929950	101929950	broad.mit.edu	37	17	36359023	36359023	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:36359023G>T	ENST00000312412.4	-	6	667	c.668C>A	c.(667-669)cCa>cAa	p.P223Q	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.P68Q																kidney(1)|lung(3)	4						ATCAGGGTATGGTTTCCGGTC	0.348000													23	349					1.22574e-08	1.64593e-08	1	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140736090	140736090	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:140736090A>T	ENST00000571252.1	+	1	1323	c.1323A>T	c.(1321-1323)caA>caT	p.Q441H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCACTGCAAGTGATGGACA	0.458000													22	73					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997479	66997479	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:66997479C>G	ENST00000303334.4	+	3	444	c.373C>G	c.(373-375)Ctg>Gtg	p.L125V	CES3_ENST00000394037.1_Missense_Mutation_p.L125V	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	125						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGAGGACTGCCTGGTCCTCAA	0.592000													5	46					0	0	1	0	0
KIAA1715	80856	broad.mit.edu	37	2	176794796	176794796	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:176794796C>G	ENST00000272748.4	-	13	1433	c.1186G>C	c.(1186-1188)Gag>Cag	p.E396Q	KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.E427Q	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	396						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TCCTCATTCTCAGTCTCTTGT	0.438000													21	91					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579485	7579485	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:7579485C>A	ENST00000420246.2	-	4	334	c.202G>T	c.(202-204)Gag>Tag	p.E68*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	68	Interaction with HRMT1L2.|Interaction with WWOX.		E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAGCAGCCTCTGGCATTCTG	0.607000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			58	99					1.64573e-32	2.91376e-32	1	1	0
MTNR1A	4543	broad.mit.edu	37	4	187455522	187455522	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:187455522C>A	ENST00000307161.5	-	2	575	c.374G>T	c.(373-375)cGc>cTc	p.R125L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	125					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GTAGCAGTAGCGGTTGATGGC	0.567000													10	28					2.17888e-05	2.56179e-05	1	1	0
BCHE	590	broad.mit.edu	37	3	165503972	165503972	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:165503972A>G	ENST00000264381.3	-	3	1811	c.1645T>C	c.(1645-1647)Ttc>Ctc	p.F549L	BCHE_ENST00000540653.1_Missense_Mutation_p.F11L	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	549					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GATGTCCAGAATCGACATTGT	0.358000													11	44					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179647564	179647564	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:179647564G>C	ENST00000589042.1	-	18	3293	c.3069C>G	c.(3067-3069)acC>acG	p.T1023T	TTN_ENST00000342175.6_Silent_p.T977T|TTN_ENST00000359218.5_Silent_p.T977T|TTN_ENST00000342992.6_Silent_p.T1023T|TTN_ENST00000460472.2_Silent_p.T977T|TTN_ENST00000360870.5_Silent_p.T1023T|TTN_ENST00000591111.1_Silent_p.T1023T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1023	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T1023T(3)|p.T977T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTGCTGACGGTTCCAGCCT	0.498000													8	52					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7773086	7773086	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:7773086C>T	ENST00000338316.4	+	18	2345	c.2256C>T	c.(2254-2256)tcC>tcT	p.S752S	ADCY2_ENST00000537121.1_Silent_p.S572S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	752					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.S752S(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATCCTGTTCCGTGTTCCTGC	0.493000													23	234					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20893164	20893164	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:20893164G>T	ENST00000381552.1	+	12	1963	c.1595G>T	c.(1594-1596)gGa>gTa	p.G532V	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G532V|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G532V|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G414V|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G483V			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	532					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TCTAAATCCGGAAATTCCTCA	0.353000													32	86					1.99505e-19	3.27882e-19	1	1	0
TMCC2	9911	broad.mit.edu	37	1	205210770	205210770	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:205210770C>A	ENST00000358024.3	+	2	734	c.345C>A	c.(343-345)tcC>tcA	p.S115S	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.S37S	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	115						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGGGTATGTCCGACCATGACT	0.637000													14	35					0.000151284	0.000170958	1	1	0
DGKB	1607	broad.mit.edu	37	7	14613946	14613946	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:14613946G>T	ENST00000403951.2	-	20	2083	c.1664C>A	c.(1663-1665)aCa>aAa	p.T555K	DGKB_ENST00000399322.3_Missense_Mutation_p.T555K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.T536K|DGKB_ENST00000407950.1_Missense_Mutation_p.T547K|DGKB_ENST00000406247.3_Missense_Mutation_p.T555K|DGKB_ENST00000258767.5_Missense_Mutation_p.T555K|DGKB_ENST00000402815.1_Missense_Mutation_p.T554K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	555	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CATGATTTCTGTGCTGTTTTC	0.348000													46	117					1.5731e-28	2.75293e-28	1	1	0
PAPPA	5069	broad.mit.edu	37	9	118950203	118950203	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:118950203G>T	ENST00000328252.3	+	2	1555	c.1186G>T	c.(1186-1188)Gac>Tac	p.D396Y		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	396	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGGGAGCTGGACGTGCTGGA	0.577000													17	42					3.99206e-14	6.04809e-14	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181741334	181741334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:181741334C>A	ENST00000526775.1	+	36	5214	c.5049C>A	c.(5047-5049)taC>taA	p.Y1683*	CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.Y1702*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.Y1634*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.Y1702*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.Y1653*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.Y1683*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.Y1309*	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1702					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTACGTGTACTTTGTCTCCT	0.547000													36	134					4.62619e-21	7.78931e-21	1	1	0
THSD7B	80731	broad.mit.edu	37	2	138169421	138169421	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:138169421C>A	ENST00000409968.1	+	14	3116	c.2938C>A	c.(2938-2940)Ccc>Acc	p.P980T	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.P980T|THSD7B_ENST00000413152.2_Missense_Mutation_p.P949T					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACCTGTTGACCCCTCCTTCTG	0.498000													6	46					0.248553	0.249212	1	1	0
MUC2	4583	broad.mit.edu	37	11	1090835	1090835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:1090835G>T	ENST00000441003.2	+	28	3757	c.3730G>T	c.(3730-3732)Ggc>Tgc	p.G1244C	MUC2_ENST00000359061.5_Missense_Mutation_p.G1245C	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1244						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGAGATCTGTGGCCCCAACGG	0.577000													12	28					7.03913e-09	9.48588e-09	1	1	0
PSG11	5680	broad.mit.edu	37	19	43523194	43523194	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:43523194G>A	ENST00000401740.1	-	3	540	c.437C>T	c.(436-438)aCt>aTt	p.T146I	PSG11_ENST00000320078.7_Missense_Mutation_p.T146I|PSG11_ENST00000306322.7_Missense_Mutation_p.T24I|PSG11_ENST00000403486.1_Missense_Mutation_p.T24I|PSG11_ENST00000595312.1_5'UTR			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	146					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GGGCTTGGGAGTCTCCACTGT	0.507000													81	185					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004718	102004718	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:102004718C>T	ENST00000372735.1	+	4	1380	c.795C>T	c.(793-795)tgC>tgT	p.C265C	BHLHB9_ENST00000447531.1_Silent_p.C265C|BHLHB9_ENST00000457056.1_Silent_p.C265C|BHLHB9_ENST00000361229.4_Silent_p.C265C|BHLHB9_ENST00000448867.1_Silent_p.C265C			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	265						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAACAGCTTGCCGCCCTTCTA	0.502000													15	35					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119549368	119549368	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:119549368T>A	ENST00000264025.3	-	2	717	c.187A>T	c.(187-189)Acc>Tcc	p.T63S	PVRL1_ENST00000340882.2_Missense_Mutation_p.T63S|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Missense_Mutation_p.T63S	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	63	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTGACCTGGGTGATCTTCACG	0.597000													9	38					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544203	82544203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:82544203C>A	ENST00000423517.2	-	7	13436	c.13099G>T	c.(13099-13101)Gtt>Ttt	p.V4367F	PCLO_ENST00000437081.1_Missense_Mutation_p.V1087F|PCLO_ENST00000333891.8_Missense_Mutation_p.V4367F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4298					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						GGCTGGCCAACAGGACTGAGT	0.517000													9	48					3.09899e-07	3.93753e-07	1	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530395	80530395	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:80530395A>C	ENST00000295057.3	-	2	1206	c.550T>G	c.(550-552)Tgc>Ggc	p.C184G	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.C184G|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	184						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGGCTGCGGCAGTCCTGGAAG	0.612000										HNSCC(69;0.2)			10	60					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404249	124404249	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:124404249G>C	ENST00000303921.2	-	1	1432	c.782C>G	c.(781-783)gCc>gGc	p.A261G		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	261						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GACCGCGTAGGCTCCATAGGA	0.607000													9	47					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246487	56246487	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:56246487C>A	ENST00000361673.3	-	4	1734	c.1521G>T	c.(1519-1521)ggG>ggT	p.G507G		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	507							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTGGCTCATCCCTGAGTTTT	0.512000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	152					5.49717e-05	6.33515e-05	1	1	0
PDHA2	5161	broad.mit.edu	37	4	96761473	96761473	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:96761473G>T	ENST00000295266.4	+	1	235	c.172G>T	c.(172-174)Gag>Tag	p.E58*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	58					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CACTAGGGCGGAGGGGCTTAA	0.458000													7	49					2.0095e-06	2.43458e-06	1	1	0
EDN3	1908	broad.mit.edu	37	20	57876558	57876558	+	Missense_Mutation	SNP	C	C	A	rs148646322		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:57876558C>A	ENST00000311585.7	+	2	516	c.146C>A	c.(145-147)aCt>aAt	p.T49N	EDN3_ENST00000371028.2_Missense_Mutation_p.T49N|EDN3_ENST00000395654.3_Missense_Mutation_p.T49N|EDN3_ENST00000371025.3_Missense_Mutation_p.T49N|EDN3_ENST00000337938.2_Missense_Mutation_p.T49N	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	49					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					TGTGAAGAGACTGTGGCTGGC	0.682000													8	40					1.58986e-06	1.93237e-06	1	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156651382	156651382	+	Nonstop_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:156651382A>T	ENST00000296518.7	+	10	2281	c.2072A>T	c.(2071-2073)tAg>tTg	p.*691L	GUCY1A3_ENST00000455639.2_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000511108.1_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000393832.3_Nonstop_Mutation_p.*433L|GUCY1A3_ENST00000506455.1_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000513574.1_Nonstop_Mutation_p.*691L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	0					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGAATAGATTAGCAACCTATA	0.388000													7	45					0	0	1	0	0
IGF2	3481	broad.mit.edu	37	11	2154386	2154386	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:2154386C>A	ENST00000416167.2	-	4	1540	c.374G>T	c.(373-375)cGc>cTc	p.R125L	IGF2_ENST00000381395.1_Missense_Mutation_p.R125L|IGF2_ENST00000418738.2_Missense_Mutation_p.R125L|IGF2_ENST00000434045.2_Missense_Mutation_p.R181L|IGF2_ENST00000381392.1_Missense_Mutation_p.R128L|IGF2_ENST00000381389.1_Missense_Mutation_p.R125L|IGF2_ENST00000337883.6_Missense_Mutation_p.R125L|IGF2_ENST00000381406.4_Missense_Mutation_p.R128L|IGF2_ENST00000300632.5_Missense_Mutation_p.R125L			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	125					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCTGCGCAGGCGCTGGGTGGA	0.667000													6	16					0.00116845	0.00124766	1	1	0
TYR	7299	broad.mit.edu	37	11	88911891	88911891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:88911891C>A	ENST00000263321.5	+	1	1272	c.770C>A	c.(769-771)cCc>cAc	p.P257H	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	257					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GGTCAGCACCCCACAAATCCT	0.453000													32	90					9.65021e-13	1.42214e-12	1	1	0
ACSL5	51703	broad.mit.edu	37	10	114164554	114164554	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:114164554A>G	ENST00000393081.1	+	5	729	c.422A>G	c.(421-423)aAt>aGt	p.N141S	ACSL5_ENST00000356116.1_Missense_Mutation_p.N197S|ACSL5_ENST00000354273.4_Missense_Mutation_p.N141S|ACSL5_ENST00000433418.1_Missense_Mutation_p.N141S|ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354655.4_Missense_Mutation_p.N141S	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	141					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TTTGCTCAGAATAGGCCAGAG	0.408000													28	136					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137154319	137154319	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:137154319G>C	ENST00000453654.1	-	25	2113	c.1574C>G	c.(1573-1575)tCt>tGt	p.S525C	DGKI_ENST00000424189.2_Missense_Mutation_p.S828C|DGKI_ENST00000288490.5_Missense_Mutation_p.S825C|DGKI_ENST00000446122.1_Missense_Mutation_p.S807C			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	825					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCACCGAGGAGAGAGCCTCTG	0.527000													10	47					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45535891	45535891	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:45535891G>A	ENST00000361462.2	+	17	4853	c.4670G>A	c.(4669-4671)cGt>cAt	p.R1557H	FAM179B_ENST00000361577.3_Missense_Mutation_p.R1504H|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1504							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAAGACTTTCGTGATCGTATT	0.358000													6	82					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25820019	25820019	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:25820019A>G	ENST00000244527.4	-	4	447	c.332T>C	c.(331-333)aTt>aCt	p.I111T	SLC17A1_ENST00000476801.1_Missense_Mutation_p.I111T|SLC17A1_ENST00000427328.1_Missense_Mutation_p.I111T|SLC17A1_ENST00000468082.1_Missense_Mutation_p.I111T	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	111					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGCAAAGCCAATCATTTTCTT	0.453000													13	80					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10409131	10409131	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:10409131C>A	ENST00000226207.5	-	19	2266	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	724	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTCTGACCTCTGTTTGAAGT	0.383000													15	36					2.4624e-09	3.35418e-09	1	1	0
EPHB1	2047	broad.mit.edu	37	3	134825299	134825299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:134825299C>A	ENST00000398015.3	+	4	1185	c.815C>A	c.(814-816)gCa>gAa	p.A272E	EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	272	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCTTGCCCTGCAGGGACATTC	0.557000													15	32					1.5739e-10	2.2199e-10	1	1	0
ROPN1L	83853	broad.mit.edu	37	5	10461347	10461347	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:10461347G>T	ENST00000503804.1	+	5	990	c.469G>T	c.(469-471)Gag>Tag	p.E157*	ROPN1L_ENST00000274134.4_Nonsense_Mutation_p.E157*|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	157					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						GGACGATCCGGAGGGCGGGCC	0.567000													73	90					2.51111e-31	4.4355e-31	1	1	0
CD300LG	146894	broad.mit.edu	37	17	41926217	41926217	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:41926217G>A	ENST00000317310.4	+	2	376	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	CD300LG_ENST00000588884.1_Missense_Mutation_p.R112Q|CD300LG_ENST00000377203.4_Missense_Mutation_p.R112Q|CD300LG_ENST00000293396.8_Missense_Mutation_p.R112Q|CD300LG_ENST00000586233.1_Missense_Mutation_p.R112Q|CD300LG_ENST00000539718.1_Missense_Mutation_p.R112Q	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	112	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTCGAAAAACGGGGCCCCGAT	0.582000													17	72					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81635091	81635091	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:81635091G>T	ENST00000356860.3	-	17	1843	c.1505C>A	c.(1504-1506)cCa>cAa	p.P502Q	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.P502Q	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	502	Cache.					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)	TGTAAAACGTGGTGTCAGTCT	0.348000													11	51					4.68919e-08	6.1976e-08	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77690524	77690524	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:77690524C>A	ENST00000521891.2	+	4	3622	c.3174C>A	c.(3172-3174)gtC>gtA	p.V1058V	ZFHX4_ENST00000518282.1_Silent_p.V1032V|ZFHX4_ENST00000050961.6_Silent_p.V1032V|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Silent_p.V1032V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1032						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCACCAAGGTCAAGTTGAATC	0.542000										HNSCC(33;0.089)			42	117					5.59293e-11	7.96281e-11	1	1	0
ZBTB25	7597	broad.mit.edu	37	14	64957115	64957115	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:64957115G>C	ENST00000394715.1	-	5	838	c.137C>G	c.(136-138)tCt>tGt	p.S46C	ZBTB25_ENST00000555424.1_Missense_Mutation_p.S46C|ZBTB25_ENST00000555220.1_Missense_Mutation_p.S46C|ZBTB25_ENST00000261683.2_Missense_Mutation_p.S46C			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	46	BTB.					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		GAAATAGTTAGAAAAAGCAGC	0.328000													13	72					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95650954	95650954	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:95650954C>T	ENST00000436874.1	+	3	302	c.197C>T	c.(196-198)aCc>aTc	p.T66I	VEZT_ENST00000261219.6_Missense_Mutation_p.T18I|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	66						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GTGGCTGAAACCATCAAAAGT	0.348000													5	11					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455353	29455353	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:29455353C>G	ENST00000377127.3	-	1	385	c.327G>C	c.(325-327)atG>atC	p.M109I		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	109						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGATGTATACCATGTAGGGAT	0.527000													8	52					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162459336	162459336	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:162459336C>T	ENST00000306100.5	-	10	1730	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	FSTL5_ENST00000427802.2_Missense_Mutation_p.D431N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D431N|FSTL5_ENST00000379164.4_Missense_Mutation_p.D431N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	432						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTAGCAGAGTCTTCCACAAAA	0.403000													21	191					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66276549	66276549	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:66276549G>T	ENST00000532677.1	+	18	2499		c.e18-1		CTD-3074O7.11_ENST00000419755.3_Intron|DPP3_ENST00000531863.1_Splice_Site|DPP3_ENST00000360510.2_Splice_Site|DPP3_ENST00000541961.1_Splice_Site|DPP3_ENST00000530165.1_Splice_Site|DPP3_ENST00000453114.1_Splice_Site	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3						proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTCCTCCCCAGGCTCAGACGT	0.493000													13	120					9.16793e-09	1.23327e-08	1	1	0
FLG2	388698	broad.mit.edu	37	1	152325946	152325946	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:152325946C>A	ENST00000388718.5	-	3	4388	c.4316G>T	c.(4315-4317)aGa>aTa	p.R1439I	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1439							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATTGTGGTCTGTGTGAGCC	0.527000													158	397					3.59047e-61	6.525e-61	1	1	0
TSIX	9383	broad.mit.edu	37	X	73041025	73041025	+	RNA	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:73041025G>T	ENST00000604411.1	+	0	28986				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AAAATGTACAGAATGAAAACT	0.368000													3	14					0.115264	0.116497	1	1	0
LYST	1130	broad.mit.edu	37	1	235883977	235883977	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:235883977C>G	ENST00000389794.3	-	40	9718	c.9544G>C	c.(9544-9546)Gat>Cat	p.D3182H	LYST_ENST00000389793.2_Missense_Mutation_p.D3182H|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3182	BEACH.				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)			ATCAACAGATCATTGAGGTCA	0.348000													12	124					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48250146	48250146	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:48250146T>C	ENST00000394747.1	-	6	1179	c.830A>G	c.(829-831)tAt>tGt	p.Y277C	ABCC11_ENST00000537808.1_Missense_Mutation_p.Y277C|ABCC11_ENST00000356608.2_Missense_Mutation_p.Y277C|ABCC11_ENST00000353782.5_Missense_Mutation_p.Y277C|ABCC11_ENST00000394748.1_Missense_Mutation_p.Y277C	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	277	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TAGGGGTCCATAGCACACCCC	0.478000													22	134					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853926	88853926	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:88853926C>A	ENST00000537554.1	-	2	4630	c.1068G>T	c.(1066-1068)tgG>tgT	p.W356C	CNR1_ENST00000369501.2_Missense_Mutation_p.W356C|CNR1_ENST00000428600.2_Missense_Mutation_p.W356C|CNR1_ENST00000468898.1_Missense_Mutation_p.W323C|CNR1_ENST00000369499.2_Missense_Mutation_p.W356C|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.W356C|CNR1_ENST00000549890.1_Missense_Mutation_p.W356C|CNR1_ENST00000549716.1_Missense_Mutation_p.W295C	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	356					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GCAGAGGGCCCCAGCAGATGA	0.522000													9	98					1.12685e-05	1.33946e-05	1	1	0
CNTN4	152330	broad.mit.edu	37	3	2778005	2778005	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:2778005A>G	ENST00000397461.1	+	4	546	c.162A>G	c.(160-162)ggA>ggG	p.G54G	CNTN4_ENST00000418658.1_Silent_p.G54G|CNTN4_ENST00000427331.1_Silent_p.G54G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	54	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGTTAAAGGAAATCCAAAAC	0.353000													9	84					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87635137	87635137	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:87635137T>A	ENST00000376214.1	+	20	3127	c.2189T>A	c.(2188-2190)aTg>aAg	p.M730K	NTRK2_ENST00000277120.3_Missense_Mutation_p.M730K|NTRK2_ENST00000376213.1_Missense_Mutation_p.M714K|NTRK2_ENST00000323115.4_Missense_Mutation_p.M714K	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	714	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GGCCACACAATGCTGCCCATT	0.572000										TSP Lung(25;0.17)			29	77					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113524823	113524823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:113524823C>A	ENST00000505019.1	-	10	2958	c.2833G>T	c.(2833-2835)Gga>Tga	p.G945*	C4orf21_ENST00000309071.5_Nonsense_Mutation_p.G945*	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	945										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTAGCTGATCCTTTTACTTGA	0.368000													11	58					5.16669e-11	7.39776e-11	1	1	0
LRP4	4038	broad.mit.edu	37	11	46918425	46918425	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:46918425T>C	ENST00000378623.1	-	8	1159	c.917A>G	c.(916-918)aAt>aGt	p.N306S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	306					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACCACCTGTATTCTCACAGTT	0.567000													10	98					0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151236486	151236486	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:151236486G>T	ENST00000368884.3	+	3	344	c.264G>T	c.(262-264)acG>acT	p.T88T	PSMD4_ENST00000469786.2_3'UTR|PSMD4_ENST00000368881.4_Silent_p.T88T	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	88	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTTCTGCACGGGCATCCGCG	0.572000													3	12					0.00024832	0.000276073	1	1	0
SDCCAG8	10806	broad.mit.edu	37	1	243652359	243652359	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:243652359C>G	ENST00000366541.3	+	17	2147	c.2029C>G	c.(2029-2031)Ctg>Gtg	p.L677V	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.L532V|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.L634V|AKT3_ENST00000336199.5_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	677	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AGCCCAGCAGCTGGTGCAGCT	0.587000													4	41					0	0	1	0	0
R3HDML	140902	broad.mit.edu	37	20	42972100	42972100	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:42972100C>A	ENST00000217043.2	+	3	636	c.464C>A	c.(463-465)cCa>cAa	p.P155Q		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	155						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GACTGTAACCCACACTGCCCC	0.622000													17	56					4.63292e-17	7.40484e-17	1	1	0
CD1D	912	broad.mit.edu	37	1	158151905	158151905	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:158151905G>T	ENST00000368171.3	+	4	911	c.412G>T	c.(412-414)Gga>Tga	p.G138*		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	138					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCATTTCAAGGAAAAGATAT	0.512000													66	248					3.57465e-26	6.19824e-26	1	1	0
SKI	6497	broad.mit.edu	37	1	2160515	2160515	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:2160515G>C	ENST00000378536.4	+	1	382	c.310G>C	c.(310-312)Gta>Cta	p.V104L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	104					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CTGCGAGACCGTACTGGAAGG	0.692000													5	10					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584589	138584589	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:138584589G>T	ENST00000251691.4	+	12	2135	c.1969G>T	c.(1969-1971)Gcc>Tcc	p.A657S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	657	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCGAACTGCCGCCCTGTCTCT	0.607000													10	77					1.76689e-08	2.35171e-08	1	1	0
OR5B17	219965	broad.mit.edu	37	11	58126193	58126193	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:58126193G>T	ENST00000357377.3	-	1	349	c.350C>A	c.(349-351)gCc>gAc	p.A117D		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCGGTCATAGGCCATTGAGGA	0.473000													10	90					7.48243e-07	9.243e-07	1	1	0
IL32	9235	broad.mit.edu	37	16	3119310	3119310	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:3119310A>T	ENST00000525643.2	+	7	853	c.521A>T	c.(520-522)gAg>gTg	p.E174V	IL32_ENST00000008180.9_Missense_Mutation_p.E154V|IL32_ENST00000528163.2_Missense_Mutation_p.E174V|IL32_ENST00000530538.2_Missense_Mutation_p.E174V|IL32_ENST00000531965.1_Missense_Mutation_p.E164V|IL32_ENST00000548476.1_Missense_Mutation_p.E220V|IL32_ENST00000552664.1_Missense_Mutation_p.E174V|IL32_ENST00000526464.2_Missense_Mutation_p.E174V|IL32_ENST00000552356.1_Missense_Mutation_p.E154V|IL32_ENST00000396890.2_Missense_Mutation_p.E220V|IL32_ENST00000530890.1_Missense_Mutation_p.E154V|IL32_ENST00000551513.1_Missense_Mutation_p.E211V|IL32_ENST00000548246.1_Missense_Mutation_p.E134V|IL32_ENST00000396887.3_Missense_Mutation_p.E117V|IL32_ENST00000440815.3_Missense_Mutation_p.E174V|IL32_ENST00000529699.1_Missense_Mutation_p.E154V|IL32_ENST00000551122.1_Missense_Mutation_p.E117V|IL32_ENST00000549213.1_Missense_Mutation_p.E117V|IL32_ENST00000444393.3_Missense_Mutation_p.E174V|IL32_ENST00000325568.5_Missense_Mutation_p.E174V|IL32_ENST00000529550.1_Missense_Mutation_p.E174V|IL32_ENST00000533097.2_Missense_Mutation_p.E174V|IL32_ENST00000534507.1_Missense_Mutation_p.E220V|IL32_ENST00000552936.1_Missense_Mutation_p.E198V|IL32_ENST00000382213.3_Missense_Mutation_p.E165V|IL32_ENST00000548652.1_Missense_Mutation_p.E165V			P24001	IL32_HUMAN	interleukin 32	220					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GGGGACAAGGAGGAGCTGACA	0.582000													11	169					0	0	1	0	0
FBP1	2203	broad.mit.edu	37	9	97365818	97365818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:97365818C>A	ENST00000415431.1	-	8	1091	c.862G>T	c.(862-864)Gtc>Ttc	p.V288F	FBP1_ENST00000375326.4_Missense_Mutation_p.V288F	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	288					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TTCTCCATGACGTAGGCCATG	0.542000											OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	40					1.3612e-06	1.67057e-06	1	1	0
CDH2	1000	broad.mit.edu	37	18	25591899	25591899	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:25591899G>A	ENST00000269141.3	-	4	880	c.457C>T	c.(457-459)Cac>Tac	p.H153Y	CDH2_ENST00000399380.3_Missense_Mutation_p.H122Y	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	153					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTGTAGGTGGCCACTGTGC	0.453000													11	102					0	0	1	0	0
OSER1	51526	broad.mit.edu	37	20	42825709	42825709	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:42825709C>G	ENST00000372970.2	-	6	1042	c.862G>C	c.(862-864)Gaa>Caa	p.E288Q	OSER1_ENST00000255174.2_Missense_Mutation_p.E288Q					oxidative stress responsive serine-rich 1																		TACATCATTTCTGCCATGTGG	0.418000													27	87					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11346640	11346640	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:11346640T>C	ENST00000304623.8	-	9	1661	c.1472A>G	c.(1471-1473)tAt>tGt	p.Y491C	CTNND2_ENST00000458100.2_Missense_Mutation_p.Y58C|CTNND2_ENST00000511377.1_Missense_Mutation_p.Y400C|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.Y154C|CTNND2_ENST00000359640.2_Missense_Mutation_p.Y491C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	491					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCCGGCGGCATAGCTGGCCCT	0.657000													7	115					0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46406966	46406966	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:46406966G>T	ENST00000433765.2	-	1	1141	c.1142C>A	c.(1141-1143)gCt>gAt	p.A381D		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	381					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CTGGTTGCGAGCGATGCTGGC	0.622000													9	121					0.0581538	0.0590124	1	1	0
SLC33A1	9197	broad.mit.edu	37	3	155571625	155571625	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:155571625C>A	ENST00000392845.2	-	1	542	c.162G>T	c.(160-162)ggG>ggT	p.G54G	SLC33A1_ENST00000359479.3_Silent_p.G54G	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	54					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCCGGTATCCCCCAGAAGAG	0.557000													23	49					2.52088e-20	4.21633e-20	1	1	0
EMILIN2	84034	broad.mit.edu	37	18	2891640	2891640	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:2891640C>A	ENST00000254528.3	+	4	1674	c.1515C>A	c.(1513-1515)ctC>ctA	p.L505L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	505					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGAGCGTTCTCCTACAGATGA	0.547000													10	77					4.68919e-08	6.1976e-08	1	1	0
CDK5RAP2	55755	broad.mit.edu	37	9	123165113	123165113	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:123165113T>A	ENST00000349780.4	-	34	5457	c.5278A>T	c.(5278-5280)Agc>Tgc	p.S1760C	CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S1681C|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1719C|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1728C	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1760	Interaction with CDK5R1 (By similarity).|Interaction with PCNT and AKAP9.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTTGTGGAGCTGGGAGCCTCT	0.577000													20	50					0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29854858	29854858	+	Splice_Site	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:29854858A>G	ENST00000325874.8	+	11	1503		c.e11-1		RAB11FIP4_ENST00000394744.2_Splice_Site	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)						cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TCCTTTCGCCAGGGTGCAGCA	0.483000													4	11					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23866757	23866757	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:23866757G>T	ENST00000405093.3	-	16	2027	c.1957C>A	c.(1957-1959)Cac>Aac	p.H653N	MYH6_ENST00000356287.3_Missense_Mutation_p.H653N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	653	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTACCCGGTGGAGAGCCGAC	0.542000													10	69					3.86212e-05	4.45765e-05	1	1	0
APLNR	187	broad.mit.edu	37	11	57003659	57003659	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:57003659C>T	ENST00000606794.1	-	1	1016	c.820G>A	c.(820-822)Ggc>Agc	p.G274S		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	274						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGCAGGCTGCCCAGCATGTAC	0.597000													16	30					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25523106	25523106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:25523106C>A	ENST00000264709.3	-	3	416	c.79G>T	c.(79-81)Gag>Tag	p.E27*	DNMT3A_ENST00000406659.3_Nonsense_Mutation_p.E27*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.E27*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	27					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGCTCCTCTCCGTCCTGC	0.682000			"""Mis, F, N, S"""		AML								5	19					0.00116845	0.00124766	1	1	0
NPY5R	4889	broad.mit.edu	37	4	164271597	164271597	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:164271597G>A	ENST00000515560.1	+	4	1694	c.172G>A	c.(172-174)Ggg>Agg	p.G58R	NPY5R_ENST00000506953.1_Missense_Mutation_p.G58R|NPY5R_ENST00000338566.3_Missense_Mutation_p.G58R			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	58					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.G58W(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGGCTTTATGGGGAATCTACT	0.378000													25	156					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841791	5841791	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:5841791T>A	ENST00000317037.2	+	1	248	c.226T>A	c.(226-228)Tgc>Agc	p.C76S	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCACCTTGTGCACCACCAT	0.527000													34	113					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20907087	20907087	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:20907087G>T	ENST00000298925.5	+	6	840		c.e6+1		NELL1_ENST00000357134.5_Splice_Site|NELL1_ENST00000325319.5_Splice_Site|NELL1_ENST00000532434.1_Splice_Site			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)						cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTTATTCAAAGTAAGCACTAA	0.403000													9	29					0.000274275	0.000301384	1	1	0
TTN	7273	broad.mit.edu	37	2	179462456	179462456	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:179462456C>A	ENST00000589042.1	-	294	57577	c.57353G>T	c.(57352-57354)gGa>gTa	p.G19118V	TTN_ENST00000342175.6_Missense_Mutation_p.G10245V|TTN_ENST00000359218.5_Missense_Mutation_p.G10178V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16550V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G10053V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G17477V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17477	Fibronectin type-III 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAGGCTTTCCAGACACATA	0.483000													7	69					0.00198382	0.00210346	1	1	0
SDK1	221935	broad.mit.edu	37	7	4153881	4153881	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:4153881G>T	ENST00000404826.2	+	25	3937	c.3798G>T	c.(3796-3798)gtG>gtT	p.V1266V	SDK1_ENST00000389531.3_Silent_p.V1266V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1266	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGCGAGGTGGTGCGGGGCC	0.637000													5	23					0.000602214	0.000654129	1	1	0
SOX6	55553	broad.mit.edu	37	11	16208425	16208425	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:16208425C>A	ENST00000352083.6	-	5	689	c.612G>T	c.(610-612)caG>caT	p.Q204H	SOX6_ENST00000316399.6_Missense_Mutation_p.Q204H|SOX6_ENST00000528429.1_Missense_Mutation_p.Q204H|SOX6_ENST00000528252.1_Missense_Mutation_p.Q204H|SOX6_ENST00000527619.1_Missense_Mutation_p.Q207H|SOX6_ENST00000396356.3_Missense_Mutation_p.Q204H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	204					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTGCCAGTAGCTGCTCCCGTA	0.493000													63	124					2.20561e-19	3.61701e-19	1	1	0
SULF2	55959	broad.mit.edu	37	20	46313316	46313316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:46313316G>T	ENST00000359930.4	-	6	1598	c.747C>A	c.(745-747)agC>agA	p.S249R	SULF2_ENST00000467815.1_Missense_Mutation_p.S249R|SULF2_ENST00000484875.1_Missense_Mutation_p.S249R|SULF2_ENST00000361612.4_Missense_Mutation_p.S249R|CTD-2653D5.1_ENST00000526566.2_RNA	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	249					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CGTAGTTGTAGCTCGGCGTGC	0.632000													18	33					1.01871e-10	1.44222e-10	1	1	0
ZNF33A	7581	broad.mit.edu	37	10	38344699	38344699	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:38344699G>A	ENST00000374618.3	+	5	1825	c.1647G>A	c.(1645-1647)ggG>ggA	p.G549G	ZNF33A_ENST00000307441.9_Silent_p.G548G|ZNF33A_ENST00000432900.2_Silent_p.G555G|ZNF33A_ENST00000458705.2_Silent_p.G548G|ZNF33A_ENST00000469037.2_Intron	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	548			Q -> E (in dbSNP:rs2505232).			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						CACACACAGGGCAGAAACCCT	0.428000													10	127					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100061934	100061934	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:100061934G>T	ENST00000524871.1	+	14	1947	c.1657G>T	c.(1657-1659)Ggg>Tgg	p.G553W	CNTN5_ENST00000527185.1_Missense_Mutation_p.G553W|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.G553W|CNTN5_ENST00000418526.2_Missense_Mutation_p.G479W|CNTN5_ENST00000528682.1_Missense_Mutation_p.G553W	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	553	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CGTTTGCCGAGGGGAAAACGT	0.393000													14	49					2.61681e-11	3.76821e-11	1	1	0
SLC6A4	6532	broad.mit.edu	37	17	28544217	28544217	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:28544217G>A	ENST00000401766.2	-	5	1316	c.804C>T	c.(802-804)ttC>ttT	p.F268F	SLC6A4_ENST00000261707.3_Silent_p.F268F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	268					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TCCAGATGCTGAAGTAGATAA	0.597000													29	102					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24185863	24185863	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:24185863C>G	ENST00000303531.7	+	12	1508	c.1356C>G	c.(1354-1356)atC>atG	p.I452M	PRKCB_ENST00000321728.7_Missense_Mutation_p.I452M	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	452	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AAATTGCCATCGGTCTGTTCT	0.423000													3	48					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510364	71510364	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:71510364C>G	ENST00000396073.3	+	9	3502	c.3221C>G	c.(3220-3222)tCt>tGt	p.S1074C	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1074					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGAACTCCATCTAGCGATGGA	0.443000													25	72					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545480	234545480	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:234545480T>C	ENST00000344644.5	+	1	381	c.312T>C	c.(310-312)agT>agC	p.S104S	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.S104S	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGGCACAAAGTATATTTTCTC	0.378000													24	115					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227264	75227264	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:75227264C>A	ENST00000342232.4	-	2	1011	c.971G>T	c.(970-972)gGc>gTc	p.G324V		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	324					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTCTTTGGAGCCGTCAGGAAA	0.463000													50	142					1.19451e-25	2.05239e-25	1	1	0
RBM12B	389677	broad.mit.edu	37	8	94746661	94746661	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:94746661T>A	ENST00000399300.2	-	3	2191	c.1978A>T	c.(1978-1980)Agg>Tgg	p.R660W	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	660							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGGAGCCACCTTAAGTCCTCC	0.637000													57	132					0	0	1	0	0
CST2	1470	broad.mit.edu	37	20	23805878	23805878	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:23805878C>T	ENST00000304725.2	-	2	381	c.311G>A	c.(310-312)tGt>tAt	p.C104Y		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	104						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						ATGGAAGGCACAGGTGTCCAA	0.547000													15	216					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887785	25887785	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:25887785A>C	ENST00000376351.3	+	11	3589	c.3230A>C	c.(3229-3231)cAa>cCa	p.Q1077P	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1077						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGGGAGAGCCAAGGCCAGTCC	0.493000													24	109					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131343323	131343323	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:131343323G>C	ENST00000372739.3	+	11	1556	c.1446G>C	c.(1444-1446)tgG>tgC	p.W482C	SPTAN1_ENST00000372731.4_Missense_Mutation_p.W482C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.W482C	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	482					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGGACAACTGGATGAGCAAGC	0.572000													12	94					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72308204	72308204	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:72308204G>T	ENST00000579490.1	+	11	1863	c.1728G>T	c.(1726-1728)ctG>ctT	p.L576L	DNAI2_ENST00000307504.5_Silent_p.L376L|DNAI2_ENST00000311014.6_Silent_p.L519L|DNAI2_ENST00000446837.2_Silent_p.L519L|DNAI2_ENST00000582036.1_Silent_p.L507L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	519					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGATGCGGCTGAAGGAGAAGG	0.647000									Kartagener syndrome				4	37					2.56e-06	3.09163e-06	1	1	0
MASP1	5648	broad.mit.edu	37	3	186943140	186943140	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:186943140G>A	ENST00000337774.5	-	13	2102	c.1713C>T	c.(1711-1713)atC>atT	p.I571I		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	571	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGGCAGACAGATGGGCATCA	0.582000													63	66					0	0	1	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478932	141478932	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:141478932C>T	ENST00000247881.2	+	1	691	c.644C>T	c.(643-645)aCt>aTt	p.T215I	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	215					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		AAAAATGCCACTGGTTTCTGG	0.443000													4	98					0	0	1	0	0
CD151	977	broad.mit.edu	37	11	838021	838021	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:838021G>T	ENST00000397420.3	+	8	944	c.695G>T	c.(694-696)tGt>tTt	p.C232F	CD151_ENST00000528011.1_Missense_Mutation_p.C230F|CD151_ENST00000322008.4_Missense_Mutation_p.C232F|CD151_ENST00000397421.1_Missense_Mutation_p.C232F			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	232					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCATTGCCTGTGTGCAGGTG	0.667000													7	19					8.12818e-05	9.24046e-05	1	1	0
IRF2BPL	64207	broad.mit.edu	37	14	77492113	77492113	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:77492113G>C	ENST00000238647.3	-	1	2921	c.2023C>G	c.(2023-2025)Cgt>Ggt	p.R675G		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	675						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TCCCCGTTACGTGATGCCAAG	0.677000													9	41					0	0	1	0	0
NOV	4856	broad.mit.edu	37	8	120435290	120435290	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:120435290G>T	ENST00000259526.3	+	5	1219	c.992G>T	c.(991-993)tGc>tTc	p.C331F	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	331	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTGGGACCTGCACCTGTCAC	0.527000													18	222					2.4624e-09	3.35418e-09	1	1	0
SCG2	7857	broad.mit.edu	37	2	224462640	224462640	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:224462640G>T	ENST00000305409.2	-	2	1593	c.1361C>A	c.(1360-1362)cCc>cAc	p.P454H		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	454					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATATGGATTGGGAAAATACGA	0.478000													22	122					1.96292e-10	2.75319e-10	1	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34825135	34825135	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:34825135G>T	ENST00000192788.5	+	12	1632	c.1461G>T	c.(1459-1461)aaG>aaT	p.K487N	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K487N	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	487										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAAGTAAAAAGCCATCTACAC	0.433000													23	75					1.37657e-19	2.26728e-19	1	1	0
ARHGEF16	27237	broad.mit.edu	37	1	3390072	3390072	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:3390072C>G	ENST00000378378.4	+	8	1696	c.1291C>G	c.(1291-1293)Ccc>Gcc	p.P431A	ARHGEF16_ENST00000378373.1_Missense_Mutation_p.P143A|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.P135A|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.P143A	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	431	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GACCCGGCTGCCCCTCCTGAT	0.682000													23	48					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687041	21687041	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:21687041C>T	ENST00000444366.2	+	1	181	c.180C>T	c.(178-180)tcC>tcT	p.S60S	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000398485.2_Intron			P15863	PAX1_HUMAN	paired box 1	83					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GTGTTTTCTCCCCCTCCGGCT	0.667000													17	62					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518250	8518250	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:8518250C>A	ENST00000381196.4	-	18	1684	c.1141G>T	c.(1141-1143)Gct>Tct	p.A381S	PTPRD_ENST00000397611.3_Missense_Mutation_p.A378S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A381S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A368S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A371S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A371S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A381S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A381S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A368S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A378S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A381S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	381	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTAGTCCAGCGACACTGTAG	0.468000										TSP Lung(15;0.13)			27	88					6.32553e-13	9.35832e-13	1	1	0
PLEKHB2	55041	broad.mit.edu	37	2	131883344	131883344	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:131883344G>T	ENST00000403716.1	+	3	616	c.56G>T	c.(55-57)tGg>tTg	p.W19L	PLEKHB2_ENST00000439822.2_Missense_Mutation_p.W19L|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.W19L|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000538982.1_5'UTR|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.W19L|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.W19L|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.W19L	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	19	PH.					membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TTGAAGCGCTGGAAGAAGAAC	0.413000													16	70					7.05477e-17	1.11811e-16	1	1	0
TG	7038	broad.mit.edu	37	8	133894758	133894758	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:133894758G>T	ENST00000220616.4	+	7	830	c.790G>T	c.(790-792)Ggc>Tgc	p.G264C	TG_ENST00000377869.1_Missense_Mutation_p.G264C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	264	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CATTTTTGCTGGCCTGGACCT	0.478000													56	217					1.54043e-34	2.74662e-34	1	1	0
C5orf38	153571	broad.mit.edu	37	5	2753469	2753469	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:2753469G>T	ENST00000515640.1	+	3	423	c.404G>T	c.(403-405)cGg>cTg	p.R135L	C5orf38_ENST00000397835.4_Intron|C5orf38_ENST00000505778.1_Missense_Mutation_p.R135L|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000334000.3_Splice_Site_p.R135_splice			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	135						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GCAGGCTCCCGGTAGGCGCGG	0.657000													11	101					0.000978159	0.00105041	1	1	0
FOXB2	442425	broad.mit.edu	37	9	79635163	79635163	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:79635163C>T	ENST00000376708.1	+	1	593	c.593C>T	c.(592-594)cCc>cTc	p.P198L		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	198					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CCGTCACAGCCCCCGCAGCAA	0.766000													9	15					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635233	42635233	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:42635233C>A	ENST00000358131.5	+	3	447	c.239C>A	c.(238-240)cCg>cAg	p.P80Q	TOX2_ENST00000423191.1_Missense_Mutation_p.P29Q|TOX2_ENST00000341197.3_Missense_Mutation_p.P71Q|TOX2_ENST00000372999.1_Missense_Mutation_p.P29Q	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	80	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GAGATCCCCCCGATAACACCT	0.587000													22	110					1.28384e-07	1.65628e-07	1	1	0
DOCK9	23348	broad.mit.edu	37	13	99537313	99537313	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:99537313C>T	ENST00000376460.1	-	21	2374	c.2294G>A	c.(2293-2295)gGa>gAa	p.G765E	DOCK9_ENST00000442173.1_Missense_Mutation_p.G765E|DOCK9_ENST00000339416.2_Missense_Mutation_p.G766E|DOCK9_ENST00000448493.2_Missense_Mutation_p.G777E	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	766	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACCACCCTTCCGTCTTTCAG	0.507000													11	15					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47587797	47587797	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:47587797G>T	ENST00000371917.4	+	10	1331	c.1331G>T	c.(1330-1332)gGc>gTc	p.G444V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	444					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCCAAAAACGGCGTCTCTTCA	0.438000													12	130					0.00185496	0.00197514	1	1	0
TMEM255A	55026	broad.mit.edu	37	X	119410766	119410766	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:119410766C>T	ENST00000371369.4	-	7	875	c.649G>A	c.(649-651)Gct>Act	p.A217T	TMEM255A_ENST00000309720.5_Missense_Mutation_p.A241T|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.A77T	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		CCAAGGACAGCGGCAGTGATG	0.527000													9	49					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53809911	53809911	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:53809911G>A	ENST00000396328.1	-	20	3533	c.3294C>T	c.(3292-3294)ccC>ccT	p.P1098P	WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000557913.1_Silent_p.P1095P|WDR72_ENST00000360509.5_Silent_p.P1098P|WDR72_ENST00000559418.1_Silent_p.P1108P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1098										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACACCTTGCAGGGGCAGACCT	0.363000													21	87					0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156294509	156294509	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:156294509G>A	ENST00000311277.4	-	4	523	c.260C>T	c.(259-261)tCa>tTa	p.S87L	MAP9_ENST00000379248.2_Missense_Mutation_p.S15L|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S87L	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	87					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAATAGTTTTGAAGGATTCTT	0.328000													8	38					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247582226	247582226	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:247582226G>T	ENST00000366497.2	+	2	910	c.130G>T	c.(130-132)Ggt>Tgt	p.G44C	NLRP3_ENST00000366496.2_Missense_Mutation_p.G44C|NLRP3_ENST00000336119.3_Missense_Mutation_p.G44C|NLRP3_ENST00000391828.3_Missense_Mutation_p.G44C|NLRP3_ENST00000348069.2_Missense_Mutation_p.G44C|NLRP3_ENST00000391827.2_Missense_Mutation_p.G44C|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	44	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTCCCGAGGGGTCAGACAGA	0.567000													8	47					0.000157383	0.000176531	1	1	0
SLC12A3	6559	broad.mit.edu	37	16	56913528	56913528	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:56913528G>T	ENST00000438926.2	+	11	1439	c.1410G>T	c.(1408-1410)ctG>ctT	p.L470L	SLC12A3_ENST00000563236.1_Silent_p.L470L|SLC12A3_ENST00000262502.5_Silent_p.L469L|SLC12A3_ENST00000566786.1_Silent_p.L469L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	470					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCTCTGCCCTGGCCTGCCTTG	0.637000													5	61					0.0215528	0.0220486	1	1	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32123712	32123712	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:32123712T>C	ENST00000422437.1	+	5	689	c.498T>C	c.(496-498)taT>taC	p.Y166Y	PPT2_ENST00000395523.1_Silent_p.Y166Y|PPT2_ENST00000375143.2_Silent_p.Y166Y|PPT2_ENST00000493548.1_3'UTR|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000361568.2_Silent_p.Y172Y|PPT2_ENST00000445576.2_Silent_p.Y166Y|PPT2_ENST00000324816.6_Silent_p.Y166Y|PPT2_ENST00000375137.2_Silent_p.Y166Y|PPT2_ENST00000437001.2_Silent_p.Y43Y																							GGATCTGCTATAGCCCCTGGG	0.537000													10	99					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177250467	177250467	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:177250467C>G	ENST00000361539.4	+	8	2467	c.2155C>G	c.(2155-2157)Cag>Gag	p.Q719E	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		719						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGCACTCTTGCAGCTCATTGA	0.542000													23	162					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50098435	50098435	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:50098435C>T	ENST00000418929.2	+	4	855	c.843C>T	c.(841-843)gcC>gcT	p.A281A		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	17	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGAGCGGGCCCTGCCACGCC	0.701000													8	10					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	122004435	122004435	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:122004435C>A	ENST00000265922.3	-	4	930	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S	DBC1_ENST00000373964.2_Missense_Mutation_p.A157S	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		157	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTTTGAGTGGCATTCCCTGAC	0.483000													26	54					9.04412e-07	1.11176e-06	1	1	0
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	RNA	SNP	C	C	T	rs111700178	by1000genomes	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:1593264C>T	ENST00000436493.2	-	0	361																											AGGGCACATGCCTGACCAAAG	0.557000													5	67					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95822393	95822393	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:95822393G>A	ENST00000416240.2	-	6	761	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	SLC25A13_ENST00000265631.5_Missense_Mutation_p.R191C|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R83C	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	191	EF-hand 4.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ACATGGGGGCGGATGGTGACC	0.448000													12	64					0	0	1	0	0
UBL4B	164153	broad.mit.edu	37	1	110655635	110655635	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:110655635G>T	ENST00000334179.3	+	1	574	c.479G>T	c.(478-480)aGc>aTc	p.S160I		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	160						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		CGGCCTCAGAGCTCCTGTGAC	0.597000													5	24					5.9392e-07	7.42155e-07	1	1	0
OR4E2	26686	broad.mit.edu	37	14	22133475	22133475	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:22133475A>T	ENST00000408935.1	+	1	179	c.179A>T	c.(178-180)tAt>tTt	p.Y60F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ACCCCCATGTATTTCTTCCTG	0.418000													76	234					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56355306	56355306	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:56355306C>A	ENST00000340482.3	-	6	1358	c.1182G>T	c.(1180-1182)ctG>ctT	p.L394L	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000225275.3_Silent_p.L362L			P05164	PERM_HUMAN	myeloperoxidase	362					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGACGGCCAGCAGCCCCAGCT	0.642000													8	58					5.18039e-06	6.21647e-06	1	1	0
CHST8	64377	broad.mit.edu	37	19	34180198	34180198	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:34180198G>A	ENST00000262622.3	+	2	789	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	CHST8_ENST00000434302.1_Missense_Mutation_p.A11T|CHST8_ENST00000438847.2_Missense_Mutation_p.A11T|CHST8_ENST00000604556.1_Missense_Mutation_p.A11T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	11					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AATGCGGCTGGCCTGCATGTT	0.652000													24	77					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704146	113704146	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:113704146C>A	ENST00000374431.3	-	4	731	c.348G>T	c.(346-348)ctG>ctT	p.L116L	LPAR1_ENST00000374430.2_Silent_p.L116L|LPAR1_ENST00000538760.1_Silent_p.L117L|LPAR1_ENST00000358883.4_Silent_p.L116L|LPAR1_ENST00000541779.1_Silent_p.L117L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	116					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TGCTAACAGTCAGTCTCCGAG	0.498000													47	91					2.65591e-33	4.7244e-33	1	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20893173	20893173	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:20893173C>T	ENST00000381552.1	+	12	1972	c.1604C>T	c.(1603-1605)tCa>tTa	p.S535L	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S535L|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S535L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S417L|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S486L			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	535					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GGAAATTCCTCAGGCATAGTG	0.373000													34	89					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180675674	180675674	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:180675674G>T	ENST00000357559.4	+	10	1332	c.948G>T	c.(946-948)gtG>gtT	p.V316V	FXR1_ENST00000480918.1_Silent_p.V303V|FXR1_ENST00000468861.1_Silent_p.V231V|FXR1_ENST00000305586.7_Silent_p.V231V|FXR1_ENST00000491062.1_Silent_p.V267V|FXR1_ENST00000445140.2_Silent_p.V316V	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	316					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TGGTTCGAGTGAGAATTGAAG	0.323000													43	56					6.7651e-33	1.20057e-32	1	1	0
PREX1	57580	broad.mit.edu	37	20	47246139	47246139	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:47246139G>A	ENST00000371941.3	-	37	4636	c.4614C>T	c.(4612-4614)gcC>gcT	p.A1538A	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1538					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCTCATCCAGGGCATTGATGG	0.642000													8	72					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256244	15256244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:15256244G>T	ENST00000378116.4	-	8	1349	c.1343C>A	c.(1342-1344)aCt>aAt	p.T448N	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	448						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCCACTTGGAGTGAGGTTATC	0.502000													9	63					0.00448238	0.00471961	1	1	0
PABPC1	26986	broad.mit.edu	37	8	101718960	101718960	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:101718960G>A	ENST00000318607.5	-	11	2649	c.1521C>T	c.(1519-1521)acC>acT	p.T507T	PABPC1_ENST00000522387.1_Silent_p.T475T|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Silent_p.T462T	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	507					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACTGTGGAACGGTGCGGACAG	0.438000													18	69					0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	917141	917141	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:917141G>C	ENST00000166345.3	+	13	1578	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	TRIP13_ENST00000510412.1_3'UTR	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	408					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CGTCACCATAGAGGGGTTCCT	0.592000													12	77					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678887	100678887	+	Missense_Mutation	SNP	C	C	T	rs141608296		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:100678887C>T	ENST00000306151.4	+	3	4254	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1397	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAACCACTCCGTTAACAAGT	0.507000													138	373					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33603269	33603269	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:33603269G>T	ENST00000389232.4	+	1	93	c.23G>T	c.(22-24)gGc>gTc	p.G8V	RYR3_ENST00000415757.3_Missense_Mutation_p.G8V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	8					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAGAAGGAGGCGAGGACGAG	0.746000													6	17					1.12685e-05	1.33946e-05	1	1	0
FAF1	11124	broad.mit.edu	37	1	51001120	51001120	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:51001120G>A	ENST00000396153.2	-	15	1866	c.1415C>T	c.(1414-1416)aCa>aTa	p.T472I	FAF1_ENST00000545823.1_Missense_Mutation_p.T230I|FAF1_ENST00000371778.4_Missense_Mutation_p.T472I	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	472					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTCATCTACTGTTGTGTTCCC	0.328000													13	68					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102608499	102608499	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:102608499C>T	ENST00000393772.2	-	7	987	c.561G>A	c.(559-561)ttG>ttA	p.L187L	FBXL13_ENST00000456695.1_Silent_p.L187L|FBXL13_ENST00000379306.3_Silent_p.L187L|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000455112.2_Silent_p.L187L|FBXL13_ENST00000313221.4_Silent_p.L187L|FBXL13_ENST00000436908.1_Silent_p.L187L|FBXL13_ENST00000379305.3_Silent_p.L187L|FBXL13_ENST00000379308.3_Silent_p.L187L			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	187	F-box.									NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GTTGTGTCATCAACATCCAGG	0.343000													9	67					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36489584	36489584	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:36489584A>T	ENST00000229812.7	-	5	602	c.317T>A	c.(316-318)gTt>gAt	p.V106D		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	106	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCTTCTGAACAAGCCGTAC	0.358000													12	60					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221326	5221326	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:5221326C>A	ENST00000321255.1	-	1	604	c.605G>T	c.(604-606)cGa>cTa	p.R202L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R202P(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTATTGAATCGGATGTCTGA	0.408000													17	42					0.000958276	0.0010379	1	1	0
GMEB1	10691	broad.mit.edu	37	1	29030804	29030804	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:29030804T>C	ENST00000373816.1	+	8	969	c.831T>C	c.(829-831)gtT>gtC	p.V277V	GMEB1_ENST00000294409.2_Silent_p.V287V|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Silent_p.V277V	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGGGGAGTTCAGCAGCGGC	0.478000													10	62					0	0	1	0	0
SDF2	6388	broad.mit.edu	37	17	26982498	26982498	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:26982498C>A	ENST00000247020.4	-	2	453	c.155G>T	c.(154-156)aGt>aTt	p.S52I	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	52	MIR 1.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CTGCTGCCCACTACCTGCAGT	0.517000													33	115					3.11337e-16	4.88322e-16	1	1	0
ELMSAN1	91748	broad.mit.edu	37	14	74206049	74206049	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:74206049G>A	ENST00000286523.5	-	2	1445	c.663C>T	c.(661-663)ttC>ttT	p.F221F	ELMSAN1_ENST00000394071.2_Silent_p.F221F	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		CCTGGTGGCCGAATGCCAGCT	0.652000													7	71					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119002578	119002578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:119002578G>T	ENST00000350777.2	+	5	625	c.562G>T	c.(562-564)Gag>Tag	p.E188*	HINFP_ENST00000527410.1_Nonsense_Mutation_p.E188*|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	188					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TAAACTTCGAGAGCACCTCCG	0.547000													23	57					7.87624e-14	1.18851e-13	1	1	0
TRIM15	89870	broad.mit.edu	37	6	30139640	30139640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:30139640C>A	ENST00000376694.4	+	7	1381	c.912C>A	c.(910-912)agC>agA	p.S304R	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	304	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						AGACCGCCAGCCGGAGCCTGG	0.642000													5	10					0.014758	0.015159	1	1	0
UBXN1	51035	broad.mit.edu	37	11	62446030	62446030	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:62446030C>G	ENST00000294119.2	-	3	288	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	UBXN1_ENST00000301935.5_Missense_Mutation_p.E53Q|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.E53Q	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	53	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						AGGGGAGTCTCTAAAGGCTCG	0.617000													5	92					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039487	248039487	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:248039487T>A	ENST00000366481.3	+	6	1205	c.1157T>A	c.(1156-1158)cTg>cAg	p.L386Q	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	386	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCCTGTGGCTGCTGAAAGGG	0.547000													68	113					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21875246	21875246	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:21875246G>T	ENST00000377072.3	+	4	612	c.264G>T	c.(262-264)aaG>aaT	p.K88N	MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000446906.2_Missense_Mutation_p.K88N|MLLT10_ENST00000307729.7_Missense_Mutation_p.K88N|MLLT10_ENST00000377059.3_Missense_Mutation_p.K88N	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	88	Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GTCCCCATAAGGATGGAGCTT	0.308000			T	"""MLL, PICALM, CDK6"""	AL								4	15					0.184627	0.185857	1	1	0
CASS4	57091	broad.mit.edu	37	20	55027161	55027161	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:55027161C>T	ENST00000371336.3	+	5	1130	c.929C>T	c.(928-930)cCt>cTt	p.P310L	CASS4_ENST00000360314.3_Missense_Mutation_p.P310L|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	310					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCAGAAATTCCTTCTTATGGC	0.463000													25	53					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9382142	9382142	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:9382142C>A	ENST00000378501.2	+	17	1531	c.1516C>A	c.(1516-1518)Caa>Aaa	p.Q506K	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.Q506K|PLCB4_ENST00000378473.3_Missense_Mutation_p.Q506K|PLCB4_ENST00000414679.2_Missense_Mutation_p.Q506K|PLCB4_ENST00000378493.1_Missense_Mutation_p.Q506K|PLCB4_ENST00000334005.3_Missense_Mutation_p.Q506K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	506					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CACAGCTGACCAAGAGGAGGA	0.438000													3	36					0.150653	0.152061	1	1	0
NOS1	4842	broad.mit.edu	37	12	117768676	117768676	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:117768676C>T	ENST00000317775.6	-	2	884	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	NOS1_ENST00000338101.4_Missense_Mutation_p.V67I|NOS1_ENST00000344089.3_Missense_Mutation_p.V67I	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	67	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CGGCCGTTGACCGCAAGAATG	0.632000													25	36					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	419036	419036	+	Silent	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:419036C>G	ENST00000264554.6	-	12	1640	c.1641G>C	c.(1639-1641)ctG>ctC	p.L547L		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	547	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTCTCAAACAGCACGTCCT	0.652000													4	3					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046547	9046547	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:9046547G>T	ENST00000397910.4	-	5	35287	c.35084C>A	c.(35083-35085)cCa>cAa	p.P11695Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11697	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						GCTGGTCTGTGGAGGATGAGT	0.522000													45	75					5.44703e-19	8.8749e-19	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91132808	91132808	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:91132808T>A	ENST00000373094.1	+	2	2414	c.1569T>A	c.(1567-1569)acT>acA	p.T523T	PCDH11X_ENST00000406881.1_Silent_p.T523T|PCDH11X_ENST00000395337.2_Silent_p.T523T|PCDH11X_ENST00000361655.2_Silent_p.T523T|PCDH11X_ENST00000361724.1_Silent_p.T523T|PCDH11X_ENST00000373097.1_Silent_p.T523T|PCDH11X_ENST00000298274.8_Silent_p.T523T|PCDH11X_ENST00000373088.1_Silent_p.T523T|PCDH11X_ENST00000504220.1_Silent_p.T523T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	523	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCATGCTGACTGTAGTGAAGA	0.438000													10	32					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966598	58966598	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:58966598G>C	ENST00000391696.1	+	3	1189	c.257G>C	c.(256-258)cGa>cCa	p.R86P	ZNF324B_ENST00000545523.1_Missense_Mutation_p.R96P|ZNF324B_ENST00000336614.4_Missense_Mutation_p.R96P			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GAATGGCCACGAGCTTTCCCA	0.557000													43	86					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201436296	201436296	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:201436296G>A	ENST00000357799.4	+	7	1325	c.1227G>A	c.(1225-1227)aaG>aaA	p.K409K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	409					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CTGAAAAAAAGAGAGAAAGAT	0.328000													6	59					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113187949	113187949	+	Silent	SNP	T	T	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:113187949T>G	ENST00000295872.4	-	8	1007	c.748A>C	c.(748-750)Aga>Cga	p.R250R		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	250					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AACAAACCTCTTTGCTCCCCT	0.388000													20	52					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20169985	20169985	+	RNA	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:20169985C>A	ENST00000338912.5	-	0	286																											GTAGGCTGTGCCCATGGATGT	0.527000													83	166					9.61239e-26	1.65913e-25	1	1	0
CHRND	1144	broad.mit.edu	37	2	233398942	233398942	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:233398942C>T	ENST00000258385.3	+	11	1293	c.1261C>T	c.(1261-1263)Cca>Tca	p.P421S	CHRND_ENST00000543200.1_Missense_Mutation_p.P406S|CHRND_ENST00000457943.2_Missense_Mutation_p.P227S	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	421					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		AGGCCGGCCCCCAGCAAGCTC	0.602000													14	55					0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726357	168726357	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:168726357C>A	ENST00000305861.1	+	2	1159	c.808C>A	c.(808-810)Ctg>Atg	p.L270M	B3GALT1_ENST00000392690.2_Missense_Mutation_p.L270M|AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	270					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATATGTGGGACTGTGTCTTCG	0.473000													23	67					1.55795e-14	2.38906e-14	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139155262	139155262	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:139155262G>T	ENST00000395297.1	-	16	3801	c.3631C>A	c.(3631-3633)Cga>Aga	p.R1211R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1211										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)			TACCTAATTCGGGATATGGAG	0.398000										HNSCC(54;0.14)			12	53					2.27111e-07	2.90027e-07	1	1	0
TIFAB	497189	broad.mit.edu	37	5	134785511	134785511	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:134785511C>T	ENST00000537858.1	-	2	319	c.119G>A	c.(118-120)cGg>cAg	p.R40Q		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	40	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCCTGCCCCCGTCCGAGAAG	0.662000													4	56					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12880652	12880652	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:12880652A>G	ENST00000155926.4	+	3	2183	c.764A>G	c.(763-765)cAt>cGt	p.H255R	TRIB2_ENST00000381465.2_Missense_Mutation_p.H119R	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	255	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TACCCTTTCCATGACATTGAA	0.572000													9	28					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171252285	171252285	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:171252285G>T	ENST00000354841.4	+	7	1317	c.1186G>T	c.(1186-1188)Gta>Tta	p.V396L	FMO1_ENST00000402921.2_Missense_Mutation_p.V333L|FMO1_ENST00000367750.3_Missense_Mutation_p.V396L|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	396					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCCTACAGGTGTAAATAAGTT	0.358000													32	77					1.61788e-16	2.54816e-16	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20622838	20622838	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:20622838C>T	ENST00000525748.1	+	2	440	c.167C>T	c.(166-168)tCc>tTc	p.S56F		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	56					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGGTCCGCTTCCACCGGCGCC	0.736000													4	10					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267460	1267460	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:1267460G>A	ENST00000447027.1	+	31	9417	c.9359G>A	c.(9358-9360)aGg>aAg	p.R3120K	MUC5B_ENST00000529681.1_Missense_Mutation_p.R3117K|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3117	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.R3117L(1)|p.R3096L(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACGACAAGGGCCACCAGT	0.637000													21	84					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186645624	186645624	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:186645624G>T	ENST00000367468.5	-	7	1081	c.945C>A	c.(943-945)ttC>ttA	p.F315L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	315					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TGCTTGTCTGGAACAACTGCT	0.423000													38	160					1.58521e-26	2.75498e-26	1	1	0
TTN	7273	broad.mit.edu	37	2	179639156	179639156	+	Missense_Mutation	SNP	G	G	T	rs143679901	by1000genomes	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:179639156G>T	ENST00000589042.1	-	30	7059	c.6835C>A	c.(6835-6837)Cca>Aca	p.P2279T	TTN_ENST00000342175.6_Missense_Mutation_p.P2233T|TTN_ENST00000359218.5_Missense_Mutation_p.P2233T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P2279T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P2233T|TTN_ENST00000360870.5_Missense_Mutation_p.P2279T|TTN_ENST00000591111.1_Missense_Mutation_p.P2279T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2003	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGATTCTGGAACTTCTATG	0.348000													7	67					8.12818e-05	9.24046e-05	1	1	0
OR2J2	26707	broad.mit.edu	37	6	29141709	29141709	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:29141709G>T	ENST00000377167.2	+	1	399	c.297G>T	c.(295-297)atG>atT	p.M99I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTGGTTGCATGGTTCAACTTT	0.478000													51	196					3.4597e-24	5.89084e-24	1	1	0
C17orf78	284099	broad.mit.edu	37	17	35745728	35745728	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:35745728C>A	ENST00000300618.4	+	5	682	c.633_splice	c.e5+1	p.P211_splice	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Intron|ACACA_ENST00000589665.1_Intron|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	211						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				GTCCCATGTCCTGTAAGTTTG	0.398000													8	19					0.000157383	0.000176531	1	1	0
TFAP2D	83741	broad.mit.edu	37	6	50740545	50740545	+	Missense_Mutation	SNP	G	G	C	rs78823892		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:50740545G>C	ENST00000008391.3	+	8	1555	c.1327G>C	c.(1327-1329)Gtg>Ctg	p.V443L		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	443							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGAGGCTGCCGTGAAAGAGGG	0.453000													3	37					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61957912	61957912	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:61957912C>T	ENST00000332800.7	-	4	809	c.676G>A	c.(676-678)Gct>Act	p.A226T	GH2_ENST00000449787.2_Intron|GH2_ENST00000423893.2_Intron|GH2_ENST00000456543.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						AGAGGCCAAGCGCTTGGGCAC	0.532000													22	90					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47944779	47944779	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:47944779T>A	ENST00000289672.2	-	11	1716	c.1666A>T	c.(1666-1668)Aaa>Taa	p.K556*		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	556	PKD 1.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGTCTTTTTTTAATGCTTCTT	0.433000													57	71					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998697	173998697	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:173998697G>C	ENST00000457714.1	+	7	2505	c.2076G>C	c.(2074-2076)ttG>ttC	p.L692F	NLGN1_ENST00000545397.1_Missense_Mutation_p.L692F|NLGN1_ENST00000401917.3_Missense_Mutation_p.L732F|NLGN1_ENST00000361589.4_Missense_Mutation_p.L692F	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	709					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGAACATCTTGGCCTTTGCAG	0.463000													47	55					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104427550	104427550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:104427550G>T	ENST00000297579.5	+	1	609	c.332G>T	c.(331-333)cGc>cTc	p.R111L		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCAGCAGGCCGCCGCTCCGCG	0.637000													22	53					1.50039e-11	2.16469e-11	1	1	0
USH2A	7399	broad.mit.edu	37	1	215848172	215848172	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:215848172G>T	ENST00000366943.2	-	63	13467	c.13081C>A	c.(13081-13083)Cct>Act	p.P4361T	USH2A_ENST00000307340.3_Missense_Mutation_p.P4361T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4361	Fibronectin type-III 29.				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)		AGATCTGGAGGGCTGACTTCT	0.488000										HNSCC(13;0.011)			18	50					3.99206e-14	6.04809e-14	1	1	0
OR1L1	26737	broad.mit.edu	37	9	125424286	125424286	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:125424286C>G	ENST00000373686.1	+	1	442	c.442C>G	c.(442-444)Ctg>Gtg	p.L148V				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CAGTGAGTGTCTGACCCAGAT	0.438000													17	258					0	0	1	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86088367	86088367	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:86088367T>A	ENST00000377332.3	-	3	363	c.255A>T	c.(253-255)ttA>ttT	p.L85F	ST3GAL5_ENST00000525834.2_Missense_Mutation_p.L85F|ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.L57F|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.L62F	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	85					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						TAGTATAATTTAACTTGAGGA	0.333000													30	53					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066400	70066400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:70066400G>A	ENST00000446444.1	-	6	1356	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	450					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GGTTGATCATGTTGAATTCTT	0.383000													27	88					0	0	1	0	0
C3orf72	401089	broad.mit.edu	37	3	138668464	138668464	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:138668464C>G	ENST00000383165.3	+	2	334	c.203C>G	c.(202-204)tCg>tGg	p.S68W		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	68										large_intestine(1)|lung(3)	4						GTCCGGCATTCGAAGGCTCAG	0.577000													39	39					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21856246	21856246	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:21856246C>A	ENST00000328843.6	+	65	10546	c.10515C>A	c.(10513-10515)ccC>ccA	p.P3505P	DNAH11_ENST00000409508.3_Silent_p.P3498P			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3505	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P3505P(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGATAGATCCCCAGCAACAGG	0.488000									Kartagener syndrome				14	28					4.14922e-12	6.04395e-12	1	1	0
FANCM	57697	broad.mit.edu	37	14	45605157	45605157	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:45605157G>A	ENST00000267430.5	+	0	8				FANCM_ENST00000556036.1_De_novo_Start_OutOfFrame|FANCM_ENST00000542564.2_5'UTR	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M						DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAGGAAACCGATGGGGATCG	0.532000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	39					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324822	150324822	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:150324822C>A	ENST00000328902.5	-	3	1080	c.864G>T	c.(862-864)ggG>ggT	p.G288G	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	288							GTP binding	p.G288G(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTCAGCCTTCCCCAGCAGGC	0.582000													16	77					1.15088e-07	1.48729e-07	1	1	0
PCED1B	91523	broad.mit.edu	37	12	47629773	47629773	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:47629773C>A	ENST00000546455.1	+	4	1658	c.927C>A	c.(925-927)cgC>cgA	p.R309R	PCED1B_ENST00000432328.1_Silent_p.R309R					PC-esterase domain containing 1B																		caccccagcgcttgccgctgc	0.647000													20	40					4.35082e-09	5.89465e-09	1	1	0
TRIO	7204	broad.mit.edu	37	5	14481375	14481375	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:14481375G>T	ENST00000344204.4	+	44	6393	c.6369G>T	c.(6367-6369)ctG>ctT	p.L2123L	TRIO_ENST00000537187.1_Silent_p.L2123L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2123	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGGCCAGCCTGGATACATCAG	0.468000													22	277					3.62473e-10	5.02807e-10	1	1	0
SNX7	51375	broad.mit.edu	37	1	99161072	99161072	+	Splice_Site	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:99161072A>T	ENST00000370189.5	+	6	811		c.e6-1		SNX7_ENST00000306121.3_Splice_Site|SNX7_ENST00000529992.1_Splice_Site			Q9UNH6	SNX7_HUMAN	sorting nexin 7						cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TTTTGTTTCTAGGAACTCTCT	0.393000													18	45					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143098433	143098433	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:143098433C>A	ENST00000275815.3	-	3	502	c.416G>T	c.(415-417)cGg>cTg	p.R139L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	139						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R139Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GAACAAGGGCCGTCGGAGCTG	0.587000													11	94					1.58986e-06	1.93237e-06	1	1	0
MYF5	4617	broad.mit.edu	37	12	81112716	81112716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:81112716G>T	ENST00000228644.3	+	3	806	c.654G>T	c.(652-654)gaG>gaT	p.E218D		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	218					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCTCCTCAGAGCAACCTGGGT	0.493000													29	65					9.80776e-20	1.62246e-19	1	1	0
FAT3	120114	broad.mit.edu	37	11	92531031	92531031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:92531031C>A	ENST00000298047.6	+	9	4869	c.4852C>A	c.(4852-4854)Ccg>Acg	p.P1618T	FAT3_ENST00000409404.2_Missense_Mutation_p.P1618T|FAT3_ENST00000525166.1_Missense_Mutation_p.P1468T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1618	Cadherin 15.				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)				TAAGATCGAACCGGTCCTAGG	0.418000										TCGA Ovarian(4;0.039)			21	109					2.21704e-12	3.24193e-12	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238283178	238283178	+	Missense_Mutation	SNP	C	C	T	rs144976132		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:238283178C>T	ENST00000295550.4	-	8	4008	c.3556G>A	c.(3556-3558)Gtg>Atg	p.V1186M	COL6A3_ENST00000392004.3_Missense_Mutation_p.V980M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V579M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V980M|COL6A3_ENST00000392003.2_Missense_Mutation_p.V779M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V985M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V986M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V980M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1186	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAATGGCCACGGCAAAGTCC	0.622000													7	52					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33603268	33603268	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:33603268G>T	ENST00000389232.4	+	1	92	c.22G>T	c.(22-24)Ggc>Tgc	p.G8C	RYR3_ENST00000415757.3_Missense_Mutation_p.G8C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	8					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGAGAAGGAGGCGAGGACGA	0.741000													7	17					3.09899e-07	3.93753e-07	1	1	0
PPRC1	23082	broad.mit.edu	37	10	103906433	103906433	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:103906433C>T	ENST00000278070.2	+	9	3723	c.3684C>T	c.(3682-3684)ctC>ctT	p.L1228L	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Silent_p.L195L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCACAGGGCTCACCCCTCCAG	0.577000													36	93					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175912	140175912	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:140175912T>A	ENST00000526136.1	+	1	1363	c.1363T>A	c.(1363-1365)Ttc>Atc	p.F455I	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.F455I|PCDHA2_ENST00000520672.2_Missense_Mutation_p.F455I|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCCGGCGTTCGCACAGCC	0.652000													28	62					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208841503	208841503	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:208841503G>C	ENST00000457206.1	-	3	1845	c.1418C>G	c.(1417-1419)cCc>cGc	p.P473R	PLEKHM3_ENST00000427836.2_Missense_Mutation_p.P473R|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P473R			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	473					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATCCTTGGGTTTGTTCCT	0.502000													7	43					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123480527	123480527	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:123480527A>C	ENST00000529750.1	+	12	1580	c.1253A>C	c.(1252-1254)aAg>aCg	p.K418T	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.K418T|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.K109T|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.K425T	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	418						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCATGGAAAAAGGAGGAGAAT	0.527000													3	17					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77942393	77942393	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:77942393G>T	ENST00000393684.3	-	8	1388	c.997C>A	c.(997-999)Cag>Aag	p.Q333K	ISM2_ENST00000429906.1_Missense_Mutation_p.Q340K|ISM2_ENST00000412904.1_Missense_Mutation_p.Q340K|ISM2_ENST00000342219.4_Missense_Mutation_p.Q421K|ISM2_ENST00000493585.1_3'UTR			Q6H9L7	ISM2_HUMAN	isthmin 2	421	TSP type-1.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CGCAGCATCTGGCTCAGATAC	0.602000													17	45					6.94344e-10	9.54408e-10	1	1	0
PCF11	51585	broad.mit.edu	37	11	82877481	82877481	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:82877481G>T	ENST00000298281.4	+	5	1994	c.1542G>T	c.(1540-1542)tcG>tcT	p.S514S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	514					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.S514S(1)|p.S613S(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CTCCAACATCGACACCTAAAG	0.448000													38	117					8.16277e-20	1.35628e-19	1	1	0
USH2A	7399	broad.mit.edu	37	1	216465522	216465522	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:216465522G>A	ENST00000366943.2	-	10	2221	c.1835C>T	c.(1834-1836)aCt>aTt	p.T612I	USH2A_ENST00000366942.3_Missense_Mutation_p.T612I|USH2A_ENST00000307340.3_Missense_Mutation_p.T612I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	612	Laminin EGF-like 2.				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)		CTTACCTGTAGTGTTATGCTC	0.383000										HNSCC(13;0.011)			33	121					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32712470	32712470	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:32712470C>A	ENST00000265074.8	+	1	931	c.588C>A	c.(586-588)caC>caA	p.H196Q	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.H196Q|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	196					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GCCACCACCACTGGAGCCGCG	0.642000													9	111					5.68852e-11	8.08369e-11	1	1	0
PSMB11	122706	broad.mit.edu	37	14	23511515	23511515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:23511515G>T	ENST00000408907.2	+	1	140	c.81G>T	c.(79-81)tgG>tgT	p.W27C		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	27					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGCGGCTGGGCTGTGCCCC	0.642000													7	113					2.0095e-06	2.43458e-06	1	1	0
ANK1	286	broad.mit.edu	37	8	41530184	41530184	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:41530184G>T	ENST00000396942.1	-	38	4867	c.4784C>A	c.(4783-4785)gCc>gAc	p.A1595D	ANK1_ENST00000352337.4_Missense_Mutation_p.A1595D|ANK1_ENST00000265709.8_Missense_Mutation_p.A1636D|ANK1_ENST00000289734.7_Missense_Mutation_p.A1595D|ANK1_ENST00000379758.2_Missense_Mutation_p.A1595D|ANK1_ENST00000396945.1_Missense_Mutation_p.A1595D|ANK1_ENST00000347528.4_Missense_Mutation_p.A1595D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1595	55 kDa regulatory domain.				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)			GTGACCTGTGGCATCAGAGTC	0.597000													77	83					1.25089e-41	2.2516e-41	1	1	0
WASF1	8936	broad.mit.edu	37	6	110434599	110434599	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:110434599G>T	ENST00000392589.1	-	5	1034	c.198C>A	c.(196-198)gtC>gtA	p.V66V	WASF1_ENST00000392587.2_Silent_p.V66V|WASF1_ENST00000392588.1_Silent_p.V66V|WASF1_ENST00000392586.1_Silent_p.V66V|WASF1_ENST00000359451.2_Silent_p.V66V	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	66					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GCAATGAGTTGACTCTGAAGG	0.308000													9	18					0.000274275	0.000301384	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82421638	82421638	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:82421638A>G	ENST00000370728.1	+	13	2544	c.1899A>G	c.(1897-1899)caA>caG	p.Q633Q	LPHN2_ENST00000370725.1_Silent_p.Q633Q|LPHN2_ENST00000359929.3_Silent_p.Q620Q|LPHN2_ENST00000370717.2_Silent_p.Q633Q|LPHN2_ENST00000370727.1_Silent_p.Q633Q|LPHN2_ENST00000319517.6_Silent_p.Q620Q|LPHN2_ENST00000394879.1_Silent_p.Q620Q|LPHN2_ENST00000271029.4_Silent_p.Q633Q|LPHN2_ENST00000370730.1_Silent_p.Q633Q|LPHN2_ENST00000335786.5_Silent_p.Q633Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Silent_p.Q620Q|LPHN2_ENST00000370723.1_Silent_p.Q620Q|LPHN2_ENST00000370721.1_Silent_p.Q558Q|LPHN2_ENST00000370713.1_Silent_p.Q620Q			O95490	LPHN2_HUMAN	latrophilin 2	633					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTCTGAACAAGCACATACTG	0.403000													17	99					0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130111211	130111211	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:130111211G>T	ENST00000373387.4	+	17	1792	c.1440G>T	c.(1438-1440)gaG>gaT	p.E480D	GARNL3_ENST00000435213.2_Missense_Mutation_p.E458D|GARNL3_ENST00000314904.5_Missense_Mutation_p.E480D	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	480					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AGCCGTGGGAGCCCCAGTGTT	0.522000													25	43					3.28513e-13	4.86972e-13	1	1	0
KLHL14	57565	broad.mit.edu	37	18	30349625	30349625	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:30349625C>A	ENST00000359358.4	-	2	1368	c.930G>T	c.(928-930)agG>agT	p.R310S	KLHL14_ENST00000358095.4_Missense_Mutation_p.R310S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	310						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCAGGCTCTGCCTGCAGTGCT	0.657000													8	49					0.00448238	0.00471961	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158606521	158606521	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:158606521G>A	ENST00000368148.3	-	37	5400	c.5220C>T	c.(5218-5220)gaC>gaT	p.D1740D	SPTA1_ENST00000368147.3_Silent_p.D1740D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1740					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCTCCCATAGTCCTGGGAGC	0.483000													56	145					0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42745405	42745405	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:42745405T>A	ENST00000409122.2	+	5	2268	c.2126T>A	c.(2125-2127)tTa>tAa	p.L709*	C17orf104_ENST00000409464.1_Nonsense_Mutation_p.L543*|C17orf104_ENST00000359945.3_Nonsense_Mutation_p.L709*	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	709										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TCCTATGACTTACTTTCTTAT	0.368000													8	16					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241676	126241676	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:126241676G>C	ENST00000394329.3	+	1	4123	c.4110G>C	c.(4108-4110)ggG>ggC	p.G1370G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1370	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAACACTGGGAGTATTTTTC	0.368000													25	152					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61898026	61898026	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:61898026A>T	ENST00000394818.3	+	4	1229	c.1027A>T	c.(1027-1029)Act>Tct	p.T343S	INCENP_ENST00000278849.4_Missense_Mutation_p.T343S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	343					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGCCAAGAAGACTGCCGAAGA	0.607000													11	72					0	0	1	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494372	106494372	+	RNA	SNP	G	G	T	rs1065546		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:106494372G>T	ENST00000390597.2	-	0	139																											AGAAGGTGCAGGTCAGCGTGA	0.552000													16	47					0.0332995	0.0339278	1	1	0
IGHA2	3494	broad.mit.edu	37	14	106054725	106054725	+	RNA	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:106054725G>T	ENST00000390539.2	-	0	7																											GGGGCTGGTCGGGGATGCTGG	0.642000													11	66					1.61879e-10	2.27897e-10	1	1	0
RYR1	6261	broad.mit.edu	37	19	38948812	38948812	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:38948812G>A	ENST00000355481.4	+	18	2178	c.2047G>A	c.(2047-2049)Gtg>Atg	p.V683M	RYR1_ENST00000359596.3_Missense_Mutation_p.V683M|RYR1_ENST00000360985.3_Missense_Mutation_p.V683M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	683	B30.2/SPRY 1.				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)	CCACTTGCGGGTGGGCTGGGC	0.647000													29	59					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180675675	180675675	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:180675675A>T	ENST00000357559.4	+	10	1333	c.949A>T	c.(949-951)Aga>Tga	p.R317*	FXR1_ENST00000480918.1_Nonsense_Mutation_p.R304*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R232*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R232*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R268*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R317*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	317					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGTTCGAGTGAGAATTGAAGG	0.318000													42	55					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086401	92086401	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:92086401A>T	ENST00000298047.6	+	1	1140	c.1123A>T	c.(1123-1125)Aga>Tga	p.R375*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.R375*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R225*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.R375*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	375	Cadherin 3.				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)				TGTCCCCATTAGATTTGAAAA	0.418000										TCGA Ovarian(4;0.039)			12	37					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839516	128839516	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:128839516C>T	ENST00000310343.9	-	22	5549	c.5550G>A	c.(5548-5550)ccG>ccA	p.P1850P	ARHGAP32_ENST00000392657.3_Silent_p.P1501P|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.P1501P	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1850	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATGGCTTCTCCGGCTGCGTGC	0.607000													10	74					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27550111	27550111	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:27550111C>A	ENST00000359541.2	-	18	2879	c.2450G>T	c.(2449-2451)cGc>cTc	p.R817L	GTF3C2_ENST00000264720.3_Missense_Mutation_p.R817L			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	817						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTGCATGCGCAGCATTGG	0.507000													5	39					1.23904e-05	1.4682e-05	1	1	0
FLG2	388698	broad.mit.edu	37	1	152327665	152327665	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:152327665C>T	ENST00000388718.5	-	3	2669	c.2597G>A	c.(2596-2598)gGa>gAa	p.G866E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	866	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGTCTGTCCCGAACTTGA	0.493000													176	544					0	0	1	0	0
FAM221A	340277	broad.mit.edu	37	7	23728907	23728907	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:23728907G>T	ENST00000344962.4	+	3	348	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	FAM221A_ENST00000409653.1_Missense_Mutation_p.D29Y|FAM221A_ENST00000409994.3_Missense_Mutation_p.D29Y|FAM221A_ENST00000409192.3_Missense_Mutation_p.D87Y	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	87																	ACATAAAACTGACTTGGAAGC	0.398000													24	71					8.24728e-16	1.28556e-15	1	1	0
GTF2I	2969	broad.mit.edu	37	7	74133245	74133245	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:74133245G>A	ENST00000324896.4	+	12	1317	c.928G>A	c.(928-930)Gag>Aag	p.E310K	AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.E290K|GTF2I_ENST00000346152.4_Intron|GTF2I_ENST00000416070.1_Intron	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	310					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CCCTGAAGTTGAGGTGACTAT	0.318000													4	26					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202127	140202127	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:140202127G>T	ENST00000529859.1	+	1	767	c.767G>T	c.(766-768)aGt>aTt	p.S256I	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S256I|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S256I	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCACCAAGTGGGACATTA	0.358000													30	58					2.42023e-17	3.89297e-17	1	1	0
CSN2	1447	broad.mit.edu	37	4	70823394	70823394	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:70823394C>A	ENST00000353151.3	-	5	284	c.273G>T	c.(271-273)ctG>ctT	p.L91L		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	91					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GAGGGACAGGCAGCACCACAG	0.483000													16	114					1.99824e-07	2.56045e-07	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18868817	18868817	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:18868817C>T	ENST00000406451.3	+	18	2497	c.2347C>T	c.(2347-2349)Cac>Tac	p.H783Y	HDAC9_ENST00000401921.1_Missense_Mutation_p.H742Y|HDAC9_ENST00000432645.2_Missense_Mutation_p.H783Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.H786Y	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	783	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCTGGCCATCACGCTGAAGA	0.527000													15	104					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446863	10446863	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:10446863A>G	ENST00000326756.3	-	3	1528	c.1090T>C	c.(1090-1092)Ttt>Ctt	p.F364L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TCCAGCGGAAACAGTTTCAGA	0.423000													46	148					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71252771	71252771	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:71252771C>T	ENST00000395275.2	-	7	1163	c.775G>A	c.(775-777)Ggc>Agc	p.G259S	CALN1_ENST00000329008.5_Missense_Mutation_p.G217S|CALN1_ENST00000431984.1_Missense_Mutation_p.G217S|CALN1_ENST00000412588.1_Missense_Mutation_p.G259S|CALN1_ENST00000395276.2_Missense_Mutation_p.G217S|CALN1_ENST00000405452.2_Missense_Mutation_p.G217S	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	217						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TACTCCATGCCGCTCCGGAGT	0.592000													11	31					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85277694	85277694	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:85277694C>G	ENST00000450363.3	-	5	1158	c.700G>C	c.(700-702)Gct>Cct	p.A234P	SLC6A15_ENST00000552192.1_Missense_Mutation_p.A127P|SLC6A15_ENST00000266682.5_Missense_Mutation_p.A234P|SLC6A15_ENST00000551388.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	234					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ACCCAGGCAGCCAACAAGCAG	0.443000													8	22					0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80577088	80577088	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:80577088C>T	ENST00000220876.7	+	5	901	c.519C>T	c.(517-519)ctC>ctT	p.L173L	STMN2_ENST00000518111.1_3'UTR|STMN2_ENST00000518491.1_Silent_p.L162L	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	173					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			ACAAGGAACTCCAGGTTGAAC	0.498000													10	34					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133792462	133792462	+	Splice_Site	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:133792462A>T	ENST00000321016.8	-	16	2512		c.e16+1		IGSF9B_ENST00000533871.2_Splice_Site			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B							integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ACAGACACCCACCTTTTTTGC	0.557000													4	28					0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23511514	23511514	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:23511514G>C	ENST00000408907.2	+	1	139	c.80G>C	c.(79-81)tGg>tCg	p.W27S		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	27					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GCTGGCGGCTGGGCTGTGCCC	0.637000													6	113					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76421479	76421479	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:76421479G>T	ENST00000389840.5	-	80	13282	c.13158C>A	c.(13156-13158)gaC>gaA	p.D4386E	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.D4358E					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGCGGTCATGTCCTCTCGGT	0.567000													13	86					6.21321e-17	9.86804e-17	1	1	0
IGHV3-73	28409	broad.mit.edu	37	14	107211181	107211181	+	RNA	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:107211181G>C	ENST00000390636.2	-	0	187																											AGAGTTTCAGGGACCCCCCAG	0.622000													36	141					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													2	5					0	0	1	0	0
ATP5E	514	broad.mit.edu	37	20	57605379	57605379	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:57605379C>T	ENST00000243997.3	-	2	268	c.138G>A	c.(136-138)gtG>gtA	p.V46V	ATP5E_ENST00000395663.1_Silent_p.V46V|ATP5E_ENST00000395659.1_Silent_p.V46V	NM_006886.3	NP_008817.1	P56381	ATP5E_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit	46					respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			TCTTTACTTTCACAATTTTTA	0.348000													8	55					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219563383	219563383	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:219563383G>T	ENST00000295709.3	+	26	3395	c.3116G>T	c.(3115-3117)cGc>cTc	p.R1039L	STK36_ENST00000440309.1_Missense_Mutation_p.R1039L|STK36_ENST00000392105.3_Missense_Mutation_p.R1018L|STK36_ENST00000392106.2_Missense_Mutation_p.R1018L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1039					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTTCTCACACGCCTGGCCCTC	0.537000													54	190					5.22555e-25	8.95809e-25	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141526889	141526889	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:141526889G>A	ENST00000389484.3	-	35	6622	c.5651C>T	c.(5650-5652)tCt>tTt	p.S1884F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1884					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATGAACAGAGTACATAAG	0.388000										TSP Lung(27;0.18)			19	51					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23876424	23876424	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:23876424A>G	ENST00000405093.3	-	3	79	c.9T>C	c.(7-9)gaT>gaC	p.D3D	MYH6_ENST00000356287.3_Silent_p.D3D	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	3	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCATCTGGGCATCGGTCATCT	0.617000													17	115					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411594	51411594	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:51411594T>C	ENST00000319760.6	-	1	854	c.802A>G	c.(802-804)Atg>Gtg	p.M268V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AACACAGTCATGAACTTATCA	0.368000													11	76					0	0	1	0	0
ZNF724P	440519	broad.mit.edu	37	19	23405513	23405513	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:23405513C>A	ENST00000418100.1	-	4	1651	c.1534G>T	c.(1534-1536)Ggc>Tgc	p.G512C																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						AAAGCTTTGCCACATTCTTTA	0.373000													17	28					1.99824e-07	2.56045e-07	1	1	0
PCSK7	9159	broad.mit.edu	37	11	117100470	117100470	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:117100470G>T	ENST00000320934.3	-	3	721	c.91C>A	c.(91-93)Ctg>Atg	p.L31M		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	31					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CAGGGAACCAGTAAGAAGAGC	0.652000			T	IGH@	MLCLS								14	37					7.93312e-07	9.78375e-07	1	1	0
TBX21	30009	broad.mit.edu	37	17	45822141	45822141	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:45822141C>A	ENST00000177694.1	+	6	1228	c.1017C>A	c.(1015-1017)atC>atA	p.I339I		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	339			I -> V (in dbSNP:rs12721471).		lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACACCAGCATCCCCTCCCCGC	0.527000													37	151					1.69901e-12	2.48925e-12	1	1	0
PROKR2	128674	broad.mit.edu	37	20	5294979	5294979	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:5294979T>G	ENST00000546004.1	-	2	283	c.37A>C	c.(37-39)Aac>Cac	p.N13H	PROKR2_ENST00000217270.3_Missense_Mutation_p.N13H			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	13						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGATTAAAGTTGGGTGTGAAA	0.512000										HNSCC(71;0.22)			16	67					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958141	143958141	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:143958141C>T	ENST00000292427.4	-	4	788	c.756G>A	c.(754-756)gtG>gtA	p.V252V	CYP11B1_ENST00000517471.1_Silent_p.V252V|CYP11B1_ENST00000377675.3_Silent_p.V323V	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	252					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCTCCTTCCACACCTTGGGGC	0.602000									Familial Hyperaldosteronism type I				4	38					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89653807	89653807	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:89653807G>T	ENST00000371953.3	+	2	1462	c.105G>T	c.(103-105)atG>atT	p.M35I		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	35	Phosphatase tensin-type.		M -> R (in CD).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.A34_G36del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTATTGCTATGGGATTTCCTG	0.284000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			18	51					2.48551e-13	3.7062e-13	1	1	0
TRPV6	55503	broad.mit.edu	37	7	142573593	142573593	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:142573593G>C	ENST00000359396.3	-	7	1072	c.827C>G	c.(826-828)aCt>aGt	p.T276S	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	276					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTCATAGAGAGTCGAGGTCAG	0.527000													22	101					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294707	62294707	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:62294707G>T	ENST00000378024.4	-	5	7456	c.7182C>A	c.(7180-7182)caC>caA	p.H2394Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2394					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)				GGCTCTTCAAGTGTAGATCGA	0.483000													54	72					1.86277e-20	3.12251e-20	1	1	0
ARHGEF40	55701	broad.mit.edu	37	14	21542500	21542500	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:21542500A>T	ENST00000298694.4	+	3	738	c.611A>T	c.(610-612)gAa>gTa	p.E204V	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E204V			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	204					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTGCCCCCAGAACTGCCCTCT	0.617000													11	36					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679280	176679280	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:176679280G>T	ENST00000367662.3	+	11	4783	c.3619G>T	c.(3619-3621)Gtt>Ttt	p.V1207F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1207					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAGTGTCCTGTTTCCTTGGT	0.463000													42	81					1.8453e-21	3.11394e-21	1	1	0
GIMAP6	474344	broad.mit.edu	37	7	150324823	150324823	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:150324823C>A	ENST00000328902.5	-	3	1079	c.863G>T	c.(862-864)gGg>gTg	p.G288V	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	288							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCAGCCTTCCCCAGCAGGCA	0.587000													17	77					1.99824e-07	2.56045e-07	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41561050	41561050	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr21:41561050C>A	ENST00000400454.1	-	12	2949	c.2472G>T	c.(2470-2472)gaG>gaT	p.E824D		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	824	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGATTCGGTCCTCCTTCTCCC	0.517000													38	93					1.67305e-13	2.50957e-13	1	1	0
CHRNG	1146	broad.mit.edu	37	2	233406100	233406100	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:233406100G>A	ENST00000389494.3	+	5	388	c.367G>A	c.(367-369)Gag>Aag	p.E123K	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	123					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	p.E123K(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CGGTGTCTTCGAGGTGGCCCT	0.637000													13	123					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40690377	40690377	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:40690377G>C	ENST00000225927.2	+	3	653	c.552G>C	c.(550-552)ctG>ctC	p.L184L	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	184						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTTGGGCCTGACCCAGGCAG	0.527000													16	196					0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282496	71282496	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:71282496C>T	ENST00000335793.3	-	2	538	c.144G>A	c.(142-144)ggG>ggA	p.G48G	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.G48G			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	48					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			AGGAGGTGTCCCCAAAGGCGT	0.647000													7	58					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238727007	238727007	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:238727007G>A	ENST00000316997.4	+	3	1580	c.1448G>A	c.(1447-1449)aGg>aAg	p.R483K	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.R483K	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	482							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ACAACCAGCAGGGCAACAAGT	0.388000													5	54					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133906086	133906086	+	Silent	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:133906086C>G	ENST00000220616.4	+	11	2953	c.2913C>G	c.(2911-2913)ggC>ggG	p.G971G	TG_ENST00000377869.1_Silent_p.G971G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	971	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGACCTCGGCCTTCCTCCGC	0.592000													30	75					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105641938	105641938	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:105641938A>T	ENST00000542731.1	+	7	852	c.744A>T	c.(742-744)gaA>gaT	p.E248D	CDHR3_ENST00000478080.1_Missense_Mutation_p.E160D|CDHR3_ENST00000317716.9_Missense_Mutation_p.E248D|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000541203.1_Missense_Mutation_p.N149I|CDHR3_ENST00000470188.1_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	248	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TCCTGGAGGAACTGAGTCCAG	0.517000													37	103					0	0	1	0	0
TRAV7	28686	broad.mit.edu	37	14	22251630	22251630	+	RNA	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:22251630C>G	ENST00000390429.3	+	0	247																											GAAAGGAAGACTAAATGCTAC	0.428000													11	49					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52905960	52905960	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:52905960T>A	ENST00000261844.7	-	3	263	c.111A>T	c.(109-111)gtA>gtT	p.V37V	FAM214A_ENST00000546305.2_Silent_p.V44V	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	37																	TTCGACCTTTTACAGAACATT	0.428000													4	31					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695399	109695399	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:109695399A>G	ENST00000465301.2	+	3	1800	c.1554A>G	c.(1552-1554)acA>acG	p.T518T	RGAG1_ENST00000540313.1_Silent_p.T518T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	518										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TTACGGCAACAGCCTCTGAAA	0.512000													42	91					0	0	1	0	0
FAM71C	196472	broad.mit.edu	37	12	100042361	100042361	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:100042361C>G	ENST00000324341.1	+	1	831	c.409C>G	c.(409-411)Cag>Gag	p.Q137E	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	137										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CGTAAAAAAACAGCTCCACCT	0.468000													25	68					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887787	25887787	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:25887787G>C	ENST00000376351.3	+	11	3591	c.3232G>C	c.(3232-3234)Ggc>Cgc	p.G1078R	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1078						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGAGCCAAGGCCAGTCCAT	0.493000													24	109					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086904	9086904	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:9086904C>T	ENST00000397910.4	-	1	5114	c.4911G>A	c.(4909-4911)ggG>ggA	p.G1637G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1637	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						TACTACTGCTCCCTGTTGTTG	0.498000													46	88					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123785874	123785874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:123785874G>T	ENST00000422452.2	-	8	1532	c.1469C>A	c.(1468-1470)tCg>tAg	p.S490*	TENM1_ENST00000371130.3_Nonsense_Mutation_p.S490*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTCCTGAAGCGAAGTTAAGAT	0.428000													27	45					1.08971e-26	1.89821e-26	1	1	0
EPC1	80314	broad.mit.edu	37	10	32594782	32594782	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:32594782T>A	ENST00000319778.6	-	2	533	c.231A>T	c.(229-231)ccA>ccT	p.P77P	EPC1_ENST00000375110.2_Silent_p.P27P|EPC1_ENST00000263062.8_Silent_p.P77P	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	77					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTTCTGCCTCTGGGACCGGTA	0.403000													17	43					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3779573	3779573	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:3779573G>A	ENST00000310132.6	-	10	1283	c.885C>T	c.(883-885)atC>atT	p.I295I	MATK_ENST00000395040.2_Silent_p.I254I|MATK_ENST00000585778.1_Silent_p.I295I|MATK_ENST00000395045.2_Silent_p.I296I	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	295	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGTGCAGGATCACGCCCA	0.711000													7	11					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44336399	44336399	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:44336399C>A	ENST00000315087.7	-	1	733	c.73G>T	c.(73-75)Gcc>Tcc	p.A25S	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A25S|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A25S	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	25					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AAGGCAAAGGCGCAGATGAAG	0.612000													6	56					0.217242	0.218108	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128840	147128840	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:147128840C>T	ENST00000282928.4	+	1	1670	c.941C>T	c.(940-942)gCg>gTg	p.A314V		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	314					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A314G(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AAGGTCTTCGCGCGCTCCGAG	0.562000													31	44					0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107445	121107445	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:121107445G>T	ENST00000295228.3	+	2	1265	c.1219G>T	c.(1219-1221)Gcc>Tcc	p.A407S		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	407					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GTGCGGCTGCGCCTGACAGTG	0.637000													10	25					1.76689e-08	2.35171e-08	1	1	0
KIAA0196	9897	broad.mit.edu	37	8	126071510	126071510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:126071510C>A	ENST00000318410.7	-	14	2067	c.1718G>T	c.(1717-1719)aGg>aTg	p.R573M	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R425M	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	573					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGGATTTACCCTTATGCTTTC	0.408000													12	71					1.5842e-08	2.11974e-08	1	1	0
LAMC1	3915	broad.mit.edu	37	1	183093904	183093904	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:183093904G>C	ENST00000258341.4	+	14	2797	c.2540G>C	c.(2539-2541)gGa>gCa	p.G847A		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	847	Laminin EGF-like 8.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCTTGACGGGAGAATGCCTG	0.517000													15	47					0	0	1	0	0
TMEM62	80021	broad.mit.edu	37	15	43446871	43446871	+	Splice_Site	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:43446871G>A	ENST00000260403.2	+	9	1303	c.1022_splice	c.e9-1	p.V342_splice		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	342						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TCATTTTAGAGTCTTGGCCTT	0.378000													6	34					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956473	143956473	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:143956473C>G	ENST00000292427.4	-	8	1330	c.1298G>C	c.(1297-1299)gGc>gCc	p.G433A	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.G504A	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	433					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCTGCCGGAGCCCCTGATGTC	0.632000									Familial Hyperaldosteronism type I				27	90					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139379	3139379	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:3139379C>A	ENST00000252463.2	-	5	1978	c.1891G>T	c.(1891-1893)Ggc>Tgc	p.G631C	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.G549C|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.G292C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	631					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGCCGCTCGCCCGTGTGGCTG	0.706000													8	38					5.18039e-06	6.21647e-06	1	1	0
ZNF263	10127	broad.mit.edu	37	16	3339416	3339416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:3339416G>A	ENST00000574253.1	+	2	720	c.411G>A	c.(409-411)tgG>tgA	p.W137*	ZNF263_ENST00000538765.1_5'UTR|ZNF263_ENST00000219069.5_Missense_Mutation_p.E304K			O14978	ZN263_HUMAN	zinc finger protein 263	137					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TGAGAACCTGGAAGGTGTTCC	0.532000													30	150					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76657190	76657190	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:76657190T>C	ENST00000369950.3	-	14	2074	c.1885A>G	c.(1885-1887)Aga>Gga	p.R629G	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	629	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTCCCGTTTCTGAAGTTAAGT	0.403000													15	40					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167617539	167617539	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:167617539C>A	ENST00000519204.1	+	13	2522	c.2404C>A	c.(2404-2406)Cct>Act	p.P802T	TENM2_ENST00000545108.1_Missense_Mutation_p.P923T|TENM2_ENST00000403607.2_Missense_Mutation_p.P747T|TENM2_ENST00000518659.1_Missense_Mutation_p.P923T|TENM2_ENST00000520394.1_Missense_Mutation_p.P691T					teneurin transmembrane protein 2																		TGGAGAGAACCCTTTCAACAG	0.547000													7	26					0.000157383	0.000176531	1	1	0
DLGAP1	9229	broad.mit.edu	37	18	3879681	3879681	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:3879681G>T	ENST00000315677.3	-	4	983	c.388C>A	c.(388-390)Cac>Aac	p.H130N	DLGAP1_ENST00000515196.2_Missense_Mutation_p.H130N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.H130N|DLGAP1_ENST00000581527.1_Missense_Mutation_p.H130N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	130					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCGCTGCGGTGCTCCACGGCC	0.677000													31	90					3.99451e-17	6.39798e-17	1	1	0
HTR3B	9177	broad.mit.edu	37	11	113815415	113815415	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:113815415G>C	ENST00000260191.2	+	8	1285	c.1028G>C	c.(1027-1029)cGa>cCa	p.R343P	HTR3B_ENST00000537778.1_Missense_Mutation_p.R332P	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	343					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TTGTGCCTTCGAGGGGACACC	0.552000													35	92					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28884908	28884908	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:28884908C>G	ENST00000375664.3	+	7	1331	c.722C>G	c.(721-723)tCt>tGt	p.S241C	WAC_ENST00000428935.1_Missense_Mutation_p.S241C|WAC_ENST00000347934.4_Intron|WAC_ENST00000354911.4_Missense_Mutation_p.S286C|WAC_ENST00000375646.1_Intron			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	286					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AATGGAGCATCTACTTTATCA	0.423000													29	85					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150730964	150730964	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:150730964T>C	ENST00000358849.4	+	2	461	c.368T>C	c.(367-369)tTt>tCt	p.F123S	ABCB8_ENST00000477719.1_Missense_Mutation_p.F123S|ABCB8_ENST00000477092.1_Missense_Mutation_p.F123S|ABCB8_ENST00000297504.6_Missense_Mutation_p.F140S|ABCB8_ENST00000356058.4_Missense_Mutation_p.F160S|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000498578.1_Missense_Mutation_p.F123S|ABCB8_ENST00000493338.1_3'UTR	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	140						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTGGCAGTTTCTGCACCCC	0.627000													10	50					0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70123383	70123383	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:70123383T>C	ENST00000388768.2	-	15	1945	c.1619A>G	c.(1618-1620)gAg>gGg	p.E540G	RUFY2_ENST00000265865.3_Missense_Mutation_p.E95G|RUFY2_ENST00000602465.1_Missense_Mutation_p.E505G	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	554						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AAGAGCTTGCTCTTGTTCATG	0.328000													5	14					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520738	52520738	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:52520738C>A	ENST00000216286.5	-	4	1068	c.1069_splice	c.e4+1	p.E357_splice	NID2_ENST00000541773.1_Splice_Site_p.E304_splice	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	357						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GAGATCCTACCCTCTAAAGGC	0.488000													13	84					1	1	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176526271	176526271	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:176526271G>T	ENST00000367662.3	+	2	1977	c.813G>T	c.(811-813)cgG>cgT	p.R271R	PAPPA2_ENST00000367661.3_Silent_p.R271R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	271					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCGGGAGCGGCTGCTGCTGC	0.567000													16	44					4.7546e-09	6.4302e-09	1	1	0
OR2J2	26707	broad.mit.edu	37	6	29141788	29141788	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:29141788G>C	ENST00000377167.2	+	1	478	c.376G>C	c.(376-378)Gct>Cct	p.A126P		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCGTTATGTAGCTGTGTGTAG	0.453000													71	270					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92200438	92200438	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:92200438G>T	ENST00000212355.4	-	5	928	c.463C>A	c.(463-465)Cat>Aat	p.H155N	TGFBR3_ENST00000525962.1_Missense_Mutation_p.H155N|TGFBR3_ENST00000370399.2_Missense_Mutation_p.H155N|TGFBR3_ENST00000468996.2_5'UTR	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	155					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCATTTCCATGGGGGAAGTTC	0.418000													51	202					9.22156e-22	1.55962e-21	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134073223	134073223	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:134073223G>T	ENST00000264360.4	+	1	2754	c.1928G>T	c.(1927-1929)cGa>cTa	p.R643L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	643	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACAGCACGCCGAGTCCCGGCC	0.667000													16	42					1.5739e-10	2.2199e-10	1	1	0
CADM3	57863	broad.mit.edu	37	1	159163811	159163811	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:159163811T>A	ENST00000368125.4	+	5	829	c.672T>A	c.(670-672)tcT>tcA	p.S224S	CADM3_ENST00000368124.4_Silent_p.S258S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	224	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GATCCACCTCTCAACGCATTG	0.507000													6	81					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52054021	52054021	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:52054021C>A	ENST00000340057.1	+	3	444	c.399C>A	c.(397-399)ttC>ttA	p.F133L		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	133					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCAACTCCTTCCGGCTGGAGA	0.597000													12	66					0.00010058	0.000114001	1	1	0
ZEB1	6935	broad.mit.edu	37	10	31815707	31815707	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:31815707A>T	ENST00000446923.2	+	9	3233	c.2842A>T	c.(2842-2844)Aaa>Taa	p.K948*	ZEB1_ENST00000560721.2_Nonsense_Mutation_p.K944*|ZEB1_ENST00000320985.10_Nonsense_Mutation_p.K964*|ZEB1_ENST00000542815.3_Nonsense_Mutation_p.K897*|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.K965*	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	964					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TCAATGTGACAAATGTGGAAA	0.413000													12	54					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561848	142561848	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:142561848G>T	ENST00000392957.2	+	7	1077	c.290G>T	c.(289-291)cGg>cTg	p.R97L	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.R97L	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	97						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTTGTGGAGCGGCGCGGGGCC	0.657000													25	168					6.36457e-07	7.92688e-07	1	1	0
ZMAT4	79698	broad.mit.edu	37	8	40554910	40554910	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:40554910G>T	ENST00000297737.6	-	4	349	c.203C>A	c.(202-204)gCc>gAc	p.A68D	ZMAT4_ENST00000315769.7_Missense_Mutation_p.A68D	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	68						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CACCATGTCGGCATCACTTCC	0.478000													16	26					6.31663e-08	8.31946e-08	1	1	0
PTGFRN	5738	broad.mit.edu	37	1	117492063	117492063	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:117492063G>T	ENST00000393203.2	+	4	1229	c.1082G>T	c.(1081-1083)cGg>cTg	p.R361L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	361	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTACTGGTTCGGGATGTTAGC	0.562000													29	91					1.39806e-14	2.15261e-14	1	1	0
NRP2	8828	broad.mit.edu	37	2	206617582	206617582	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:206617582G>A	ENST00000360409.3	+	12	2718	c.1927G>A	c.(1927-1929)Gga>Aga	p.G643R	NRP2_ENST00000357118.4_Missense_Mutation_p.G643R|NRP2_ENST00000540178.1_Missense_Mutation_p.G643R|NRP2_ENST00000540841.1_Missense_Mutation_p.G643R|NRP2_ENST00000357785.5_Missense_Mutation_p.G643R|NRP2_ENST00000272849.3_Missense_Mutation_p.G643R|NRP2_ENST00000412873.2_Missense_Mutation_p.G643R	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	643	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCTCCCTTCGGGATTCAATTG	0.488000													11	36					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616355	92616355	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:92616355T>A	ENST00000298047.6	+	23	12750	c.12733T>A	c.(12733-12735)Tcc>Acc	p.S4245T	FAT3_ENST00000409404.2_Missense_Mutation_p.S4245T|FAT3_ENST00000533797.1_Missense_Mutation_p.S580T|FAT3_ENST00000525166.1_Missense_Mutation_p.S4095T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4245					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)				CCAGAGTGACTCCAGGAGCAA	0.677000										TCGA Ovarian(4;0.039)			42	179					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100348950	100348950	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:100348950C>A	ENST00000437033.2	-	5	1047	c.544G>T	c.(544-546)Gct>Tct	p.A182S	ADH7_ENST00000476959.1_Missense_Mutation_p.A202S|ADH7_ENST00000482593.1_Missense_Mutation_p.A125S|ADH7_ENST00000209665.4_Missense_Mutation_p.A194S			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	194					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TTAACAGCAGCGCCATATCCA	0.408000													6	45					1.06961e-07	1.39419e-07	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151155508	151155508	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:151155508G>A	ENST00000282466.3	-	6	6840	c.6841C>T	c.(6841-6843)Ctc>Ttc	p.L2281F	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2281	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGGCTGTGAGGAAAATATTG	0.433000													54	64					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264493	61264493	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:61264493G>T	ENST00000344731.5	+	8	1174	c.1072G>T	c.(1072-1074)Gcc>Tcc	p.A358S	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A306S	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	358					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.A358T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TGTCACATCCGCCCCAGGTCA	0.512000													10	70					1.58986e-06	1.93237e-06	1	1	0
GREM2	64388	broad.mit.edu	37	1	240656527	240656527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:240656527G>T	ENST00000318160.4	-	2	515	c.249C>A	c.(247-249)agC>agA	p.S83R		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	83	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			AGCCCTCCTCGCTCACCGTCT	0.647000													9	102					3.86212e-05	4.45765e-05	1	1	0
LRRFIP1	9208	broad.mit.edu	37	2	238626448	238626448	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:238626448G>T	ENST00000308482.9	+	4	314	c.245G>T	c.(244-246)tGg>tTg	p.W82L	LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000392000.4_Intron	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	51					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		ATCGAGCAGTGGATGGTAGGC	0.358000													25	130					3.80469e-20	6.34956e-20	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8340382	8340382	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:8340382G>T	ENST00000381196.4	-	39	5757	c.5214C>A	c.(5212-5214)acC>acA	p.T1738T	PTPRD_ENST00000397611.3_Silent_p.T1328T|PTPRD_ENST00000355233.5_Silent_p.T1332T|PTPRD_ENST00000358503.5_Silent_p.T1716T|PTPRD_ENST00000397606.3_Silent_p.T1331T|PTPRD_ENST00000397617.3_Silent_p.T1331T|PTPRD_ENST00000486161.1_Silent_p.T1331T|PTPRD_ENST00000540109.1_Silent_p.T1738T|PTPRD_ENST00000360074.4_Silent_p.T1725T|PTPRD_ENST00000537002.1_Silent_p.T1328T|PTPRD_ENST00000356435.5_Silent_p.T1738T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1738	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCACAACTATGGTGGAATTGT	0.498000										TSP Lung(15;0.13)			7	36					0.00198382	0.00210346	1	1	0
NDUFAF5	79133	broad.mit.edu	37	20	13782241	13782241	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:13782241G>T	ENST00000378106.5	+	7	748	c.629G>T	c.(628-630)gGa>gTa	p.G210V	NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Missense_Mutation_p.G182V	NM_024120.4	NP_077025.2	Q5TEU4	CT007_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	210					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										GAAAGGGAAGGAGGATTTTCT	0.448000													18	50					3.41278e-10	4.74276e-10	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34276467	34276467	+	Splice_Site	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:34276467T>A	ENST00000373381.4	-	10	1501		c.e10-2		CSMD2_ENST00000338325.1_Splice_Site	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACATGCGGGCTGCAGAGGAGA	0.532000													11	85					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281931	152281931	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:152281931C>G	ENST00000368799.1	-	3	5466	c.5431G>C	c.(5431-5433)Gac>Cac	p.D1811H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1811	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGAATGGTGTCCTGACCCTCT	0.597000									Ichthyosis				38	708					0	0	1	0	0
SPRED1	161742	broad.mit.edu	37	15	38632064	38632064	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:38632064A>G	ENST00000299084.4	+	5	1410	c.550A>G	c.(550-552)Aga>Gga	p.R184G		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	184					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TCTGAATGCCAGAAGAGTCTA	0.373000									Legius syndrome				14	34					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68200218	68200218	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:68200218T>C	ENST00000262215.3	-	7	1388	c.999A>G	c.(997-999)gtA>gtG	p.V333V		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	333					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCATTTCTTCTACAATGTTCT	0.323000													30	111					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155250852	155250852	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:155250852G>T	ENST00000357232.3	-	11	2375	c.2376C>A	c.(2374-2376)atC>atA	p.I792I	DCHS2_ENST00000339452.1_Silent_p.I1247I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	792	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCACCCAATTGATTAACTCTC	0.552000													8	49					0.000442599	0.000482836	1	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24878202	24878202	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:24878202T>C	ENST00000396432.2	-	25	4666	c.4180A>G	c.(4180-4182)Aag>Gag	p.K1394E	ARHGAP21_ENST00000320481.6_3'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1393					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CAATTTACCTTAGATTTTGTT	0.318000													18	49					0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103345895	103345895	+	Missense_Mutation	SNP	C	C	A	rs141683033	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:103345895C>A	ENST00000370162.3	-	3	628	c.134G>T	c.(133-135)cGg>cTg	p.R45L	POLL_ENST00000339310.3_Intron|POLL_ENST00000436284.2_5'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370172.1_5'UTR|POLL_ENST00000299206.4_Missense_Mutation_p.R45L|POLL_ENST00000370169.1_Missense_Mutation_p.R45L|POLL_ENST00000370158.3_Intron|POLL_ENST00000456836.2_Intron|DPCD_ENST00000470165.1_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	45	BRCT.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AACATGGGCCCGAAGGGAGCT	0.537000								DNA polymerases (catalytic subunits)					7	43					0.000673444	0.00073045	1	1	0
DDX41	51428	broad.mit.edu	37	5	176943349	176943349	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:176943349C>T	ENST00000507955.1	-	3	761	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	80					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GACTGAGGGCCTAGCGGGATG	0.612000													45	67					0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83790720	83790720	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:83790720T>A	ENST00000322019.9	+	5	720	c.446T>A	c.(445-447)aTg>aAg	p.M149K	TM6SF1_ENST00000379386.4_Missense_Mutation_p.M152K|TM6SF1_ENST00000565774.1_Missense_Mutation_p.M149K|TM6SF1_ENST00000379390.6_Missense_Mutation_p.M149K			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	149						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TCTATTATTATGAGTGTTGTT	0.318000													23	82					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509209	106509209	+	Silent	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:106509209C>G	ENST00000359195.3	+	2	1513	c.1203C>G	c.(1201-1203)ccC>ccG	p.P401P	PIK3CG_ENST00000496166.1_Silent_p.P401P|PIK3CG_ENST00000440650.2_Silent_p.P401P	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	401					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GAACCAGCCCCAAACCCTTCA	0.502000													8	75					0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15349879	15349879	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:15349879C>A	ENST00000333590.4	-	2	258	c.174G>T	c.(172-174)caG>caT	p.Q58H	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	58					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CAATCAGGCACTGAGAGAGCT	0.428000													22	36					4.35082e-09	5.89465e-09	1	1	0
RYR2	6262	broad.mit.edu	37	1	237494244	237494244	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:237494244C>A	ENST00000360064.6	+	4	228	c.228C>A	c.(226-228)tgC>tgA	p.C76*	RYR2_ENST00000366574.2_Missense_Mutation_p.Q79K|RYR2_ENST00000542537.1_Missense_Mutation_p.Q63K			Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	0					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGGGCGCTGCAGGAGATGCT	0.502000													19	65					0.000229342	0.000256483	1	1	0
C15orf59	388135	broad.mit.edu	37	15	74043389	74043389	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:74043389C>T	ENST00000569673.1	-	2	1287	c.83G>A	c.(82-84)cGc>cAc	p.R28H	C15orf59_ENST00000379822.4_Missense_Mutation_p.R28H			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	28										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CATCTTCATGCGCTGTCGAAT	0.642000													14	90					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498822	142498822	+	RNA	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:142498822C>A	ENST00000466254.1	+	0	98																											TGTGCCTGGCCACAGGCTTCT	0.607000													7	90					0.0381472	0.0387625	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36321981	36321981	+	Missense_Mutation	SNP	G	G	A	rs143145248		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:36321981G>A	ENST00000378910.5	-	27	3454	c.3455C>T	c.(3454-3456)aCg>aTg	p.T1152M	NPHS1_ENST00000353632.6_Missense_Mutation_p.T1112M	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1152					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCTCCTGCGTCGGGGGCAG	0.587000													47	87					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140317	3140317	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:3140317C>A	ENST00000252463.2	-	5	1040	c.953G>T	c.(952-954)gGg>gTg	p.G318V	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.G236V|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	318					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GAAGGAGCGCCCAGCCGGGTG	0.672000													7	61					8.12818e-05	9.24046e-05	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49671294	49671294	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:49671294T>C	ENST00000561648.1	-	4	1822	c.1769A>G	c.(1768-1770)aAc>aGc	p.N590S	ZNF423_ENST00000567169.1_Missense_Mutation_p.N473S|ZNF423_ENST00000262383.2_Missense_Mutation_p.N590S|ZNF423_ENST00000563137.2_Missense_Mutation_p.N530S|ZNF423_ENST00000562520.1_Missense_Mutation_p.N530S|ZNF423_ENST00000535559.1_Missense_Mutation_p.N473S|ZNF423_ENST00000562871.1_Missense_Mutation_p.N530S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	590					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CAGTGGAATGTTCTTGTGGTT	0.572000													21	78					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55401191	55401191	+	Missense_Mutation	SNP	G	G	A	rs149025092		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:55401191G>A	ENST00000355524.3	+	5	836	c.826G>A	c.(826-828)Gga>Aga	p.G276R	FCAR_ENST00000359272.4_Missense_Mutation_p.G264R|FCAR_ENST00000391724.3_Missense_Mutation_p.G242R|FCAR_ENST00000345937.4_Missense_Mutation_p.G180R|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Missense_Mutation_p.G168R|FCAR_ENST00000353758.4_Missense_Mutation_p.G167R|FCAR_ENST00000391725.3_Missense_Mutation_p.G254R|FCAR_ENST00000391723.3_3'UTR	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	276					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GTGTCAGCCAGGATTGACCTT	0.537000													30	118					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313064	54313064	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:54313064A>G	ENST00000324134.6	-	3	2017	c.1849T>C	c.(1849-1851)Ttg>Ctg	p.L617L	NLRP12_ENST00000351894.4_Silent_p.L617L|NLRP12_ENST00000345770.5_Silent_p.L617L|NLRP12_ENST00000391773.1_Silent_p.L617L|NLRP12_ENST00000391772.1_Silent_p.L617L|NLRP12_ENST00000391775.3_Silent_p.L617L|NLRP12_ENST00000354278.3_Silent_p.L617L|NLRP12_ENST00000535162.1_Silent_p.L617L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	617					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ATCTCGTACAAGCAGCTGAAG	0.567000													29	56					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87407258	87407258	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:87407258C>T	ENST00000338056.3	+	9	1405	c.994C>T	c.(994-996)Ctt>Ttt	p.L332F	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.L315F|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.L315F	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	332										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AATTGTGGAGCTTCAAGATCA	0.353000													19	53					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43034773	43034773	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:43034773G>T	ENST00000316099.3	+	2	280	c.191G>T	c.(190-192)gGg>gTg	p.G64V	HNF4A_ENST00000415691.1_Missense_Mutation_p.G64V|HNF4A_ENST00000443598.2_Missense_Mutation_p.G64V|HNF4A_ENST00000457232.1_Missense_Mutation_p.G42V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	64					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCATCTGCGGGGACCGGGCC	0.642000													31	109					1.75199e-13	2.62277e-13	1	1	0
OR10J1	26476	broad.mit.edu	37	1	159409749	159409749	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:159409749C>A	ENST00000423932.3	+	1	238	c.201C>A	c.(199-201)caC>caA	p.H67Q	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	67					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TTCATCTTCACACACCCATGT	0.453000													46	119					1.15183e-24	1.96565e-24	1	1	0
TAF1C	9013	broad.mit.edu	37	16	84212974	84212974	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:84212974C>A	ENST00000567759.1	-	14	2365	c.2183G>T	c.(2182-2184)cGa>cTa	p.R728L	TAF1C_ENST00000570117.1_Missense_Mutation_p.R396L|TAF1C_ENST00000378541.4_Missense_Mutation_p.R728L|TAF1C_ENST00000541676.1_Missense_Mutation_p.R635L|TAF1C_ENST00000341690.6_Missense_Mutation_p.R634L|TAF1C_ENST00000566732.1_Missense_Mutation_p.R702L	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	728					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGCAGCCCCTCGGCCTGCCCA	0.706000													15	17					1.52009e-12	2.23578e-12	1	1	0
TAS2R14	50840	broad.mit.edu	37	12	11091224	11091224	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:11091224G>A	ENST00000537503.1	-	1	638	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	195					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						AACATTGCCAGGGACAAAGTA	0.423000													24	43					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236187502	236187502	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:236187502C>A	ENST00000264187.6	-	9	2078	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	NID1_ENST00000366595.3_Missense_Mutation_p.D666Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	666	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGAAGAGCATCAGGGGAGCCT	0.547000													8	52					0.000274275	0.000301384	1	1	0
CACNG3	10368	broad.mit.edu	37	16	24372682	24372682	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:24372682A>T	ENST00000005284.3	+	4	1648	c.446A>T	c.(445-447)aAc>aTc	p.N149I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	149					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGGTTAAGCAACATCATTGGC	0.413000													32	124					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356834	42356834	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:42356834G>T	ENST00000554171.1	+	5	3438	c.1006G>T	c.(1006-1008)Gtg>Ttg	p.V336L	LRFN5_ENST00000554120.1_Missense_Mutation_p.V336L|LRFN5_ENST00000298119.4_Missense_Mutation_p.V336L			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	336	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGATCTCTGGTGTATGATAA	0.453000										HNSCC(30;0.082)			27	95					7.53681e-25	1.2891e-24	1	1	0
CCNB3	85417	broad.mit.edu	37	X	50094639	50094639	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:50094639G>T	ENST00000376042.1	+	13	4423	c.4125G>T	c.(4123-4125)ttG>ttT	p.L1375F	CCNB3_ENST00000276014.7_Missense_Mutation_p.L1375F|CCNB3_ENST00000348603.2_Missense_Mutation_p.L271F|CCNB3_ENST00000376038.1_Missense_Mutation_p.L271F			Q8WWL7	CCNB3_HUMAN	cyclin B3	1375					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCCCTGCCTTGGATATGTTGA	0.483000													10	21					0.00829132	0.00863393	1	1	0
PEX19	5824	broad.mit.edu	37	1	160249886	160249886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:160249886C>A	ENST00000368072.5	-	6	766	c.745G>T	c.(745-747)Gag>Tag	p.E249*	PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Nonsense_Mutation_p.E102*|PEX19_ENST00000440949.3_Nonsense_Mutation_p.E159*	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCACCATCTCAAAACGAGCC	0.493000													105	227					7.73176e-47	1.40173e-46	1	1	0
KIAA1324	57535	broad.mit.edu	37	1	109743477	109743477	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:109743477C>A	ENST00000369939.3	+	21	3111	c.2928C>A	c.(2926-2928)acC>acA	p.T976T	KIAA1324_ENST00000529753.1_Silent_p.T889T|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	976					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TCATCTTTACCAGCAAGAAGT	0.542000											OREG0013630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	65					0.014758	0.015159	1	1	0
CPZ	8532	broad.mit.edu	37	4	8605802	8605802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:8605802G>T	ENST00000382480.2	+	4	985	c.185G>T	c.(184-186)cGg>cTg	p.R62L	CPZ_ENST00000360986.4_Missense_Mutation_p.R199L|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.R188L	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	199	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGCTGAGGCGGACGGCCTCC	0.701000													3	10					0.004672	0.00488524	1	1	0
C3orf20	84077	broad.mit.edu	37	3	14769948	14769948	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:14769948C>T	ENST00000253697.3	+	12	2145	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	C3orf20_ENST00000435614.1_Silent_p.L443L|C3orf20_ENST00000412910.1_Silent_p.L443L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	565						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GTTAACAGGTCTGTTTACCAT	0.493000													13	48					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242035504	242035504	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:242035504A>T	ENST00000366548.3	+	12	2031	c.1438A>T	c.(1438-1440)Aga>Tga	p.R480*	EXO1_ENST00000348581.5_Nonsense_Mutation_p.R480*|EXO1_ENST00000518483.1_Nonsense_Mutation_p.R480*	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	480	Interaction with MLH1.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACCTAGGACGAGAAATAAATT	0.398000								Editing and processing nucleases					28	119					0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132938854	132938854	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:132938854A>T	ENST00000275191.2	-	1	463	c.356T>A	c.(355-357)cTa>cAa	p.L119Q	TAAR2_ENST00000367931.1_Missense_Mutation_p.L164Q|TAAR2_ENST00000537809.1_Missense_Mutation_p.L119Q	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	164						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		ACATAGAAGTAGCAATCTTTT	0.408000													7	81					0	0	1	0	0
BEX2	84707	broad.mit.edu	37	X	102564882	102564882	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:102564882G>T	ENST00000536889.1	-	3	476	c.119C>A	c.(118-120)gCg>gAg	p.A40E	BEX2_ENST00000372677.3_Missense_Mutation_p.A8E|BEX2_ENST00000372674.1_Missense_Mutation_p.A8E	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	8					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						ATTGTTTAACGCTCGTTCCTC	0.463000													11	17					0.0809354	0.0820203	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768313	77768313	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:77768313G>A	ENST00000521891.2	+	10	9604	c.9156G>A	c.(9154-9156)ccG>ccA	p.P3052P	ZFHX4_ENST00000518282.1_Silent_p.P3026P|ZFHX4_ENST00000050961.6_Silent_p.P3007P|ZFHX4_ENST00000455469.2_Silent_p.P3007P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3007	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P3036P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTGGCTCCGACCACGGTTC	0.507000										HNSCC(33;0.089)			10	109					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104071263	104071263	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:104071263C>A	ENST00000388887.2	+	25	2883	c.2679C>A	c.(2677-2679)caC>caA	p.H893Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	893	EGF-like 8.				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						CGGGCACCCACACCTGCGTGT	0.542000													45	70					9.84934e-19	1.60131e-18	1	1	0
CRTAM	56253	broad.mit.edu	37	11	122738173	122738173	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:122738173A>G	ENST00000227348.4	+	8	921	c.874A>G	c.(874-876)Acg>Gcg	p.T292A	CRTAM_ENST00000533709.1_Missense_Mutation_p.T93A	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	292					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CCTGCTGCTCACGCTGGTGTC	0.413000													6	43					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113650925	113650925	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:113650925C>A	ENST00000297405.5	-	21	3770	c.3526_splice	c.e21+1	p.E1176_splice	CSMD3_ENST00000352409.3_Splice_Site_p.E1176_splice|CSMD3_ENST00000455883.2_Splice_Site_p.E1072_splice|CSMD3_ENST00000343508.3_Splice_Site_p.E1136_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1176	CUB 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTTTCTCACCAGAGAATGTT	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	32					0.000274275	0.000301384	1	1	0
C8orf74	203076	broad.mit.edu	37	8	10557970	10557970	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:10557970G>T	ENST00000304519.5	+	4	903	c.874G>T	c.(874-876)Gca>Tca	p.A292S	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	292										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GAAAGCGAAGGCAAGGAAGTA	0.622000													6	7					5.9392e-07	7.42155e-07	1	1	0
IFNB1	3456	broad.mit.edu	37	9	21077402	21077402	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:21077402G>T	ENST00000380232.2	-	1	541	c.467C>A	c.(466-468)gCc>gAc	p.A156D		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	156					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	GTACTCCTTGGCCTTCAGGTA	0.433000													40	134					2.59497e-14	3.96323e-14	1	1	0
FZD7	8324	broad.mit.edu	37	2	202900716	202900716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:202900716G>T	ENST00000286201.1	+	1	1407	c.1346G>T	c.(1345-1347)cGt>cTt	p.R449L		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	449					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCCCTCTTCCGTATCCGCACC	0.612000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	95					0.000219431	0.000245763	1	1	0
DEFA4	1669	broad.mit.edu	37	8	6793589	6793589	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:6793589G>C	ENST00000297435.2	-	3	371	c.247C>G	c.(247-249)Ctc>Gtc	p.L83V		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	83					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCACCAATGAGGCAGTTCCCA	0.512000													10	50					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096328	51096328	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:51096328T>A	ENST00000395542.2	-	12	2895	c.2711A>T	c.(2710-2712)cAc>cTc	p.H904L	COBL_ENST00000265136.7_Missense_Mutation_p.H822L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	822										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCCCTCATGGTGGGCAGACTT	0.642000													17	42					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26885753	26885753	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:26885753C>T	ENST00000231021.4	-	11	2024	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	618					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGTAGAATCGCAACGAGAGCT	0.512000													5	41					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105365611	105365611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:105365611C>A	ENST00000369774.4	-	14	1648	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	SH3PXD2A_ENST00000355946.2_Nonsense_Mutation_p.E430*|SH3PXD2A_ENST00000538130.1_Nonsense_Mutation_p.E293*|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Nonsense_Mutation_p.E325*|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	458	SH3 3.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GACTGGAATTCGGCAATGGTG	0.542000											OREG0020500	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	44					1.01871e-10	1.44222e-10	1	1	0
MATN4	8785	broad.mit.edu	37	20	43926606	43926606	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:43926606C>G	ENST00000537548.1	-	9	1775	c.1531G>C	c.(1531-1533)Ggc>Cgc	p.G511R	MATN4_ENST00000372756.1_Missense_Mutation_p.G511R|MATN4_ENST00000342716.4_Missense_Mutation_p.G511R|MATN4_ENST00000360607.5_Missense_Mutation_p.G470R|MATN4_ENST00000372754.1_Missense_Mutation_p.G552R|MATN4_ENST00000372751.4_Missense_Mutation_p.G362R|MATN4_ENST00000353917.5_Missense_Mutation_p.G429R|MATN4_ENST00000372753.1_Missense_Mutation_p.G362R			O95460	MATN4_HUMAN	matrilin 4	552	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTCATGGTGCCGAAGTCCGGG	0.652000													14	37					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026674	36026674	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:36026674G>T	ENST00000373243.2	+	3	1305	c.922G>T	c.(922-924)Gcc>Tcc	p.A308S	NCDN_ENST00000373253.3_Missense_Mutation_p.A291S|NCDN_ENST00000356090.4_Missense_Mutation_p.A308S	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	308					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAGTTCCTGGCCCTGCTGGT	0.672000													5	22					0.014758	0.015159	1	1	0
MRPS5	64969	broad.mit.edu	37	2	95753185	95753185	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:95753185C>A	ENST00000272418.2	-	12	1418	c.1210G>T	c.(1210-1212)Gtc>Ttc	p.V404F		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	404					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCCAGTTTGACGTCTGGAACC	0.567000													13	52					1.49906e-05	1.77076e-05	1	1	0
RYR2	6262	broad.mit.edu	37	1	237880535	237880535	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:237880535G>A	ENST00000366574.2	+	72	10678	c.10361G>A	c.(10360-10362)cGc>cAc	p.R3454H	RYR2_ENST00000360064.6_Missense_Mutation_p.R3452H|RYR2_ENST00000542537.1_Missense_Mutation_p.R3438H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3454					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAATGAAGCGCAAAGGAGAT	0.488000													12	20					0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67355077	67355077	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:67355077G>A	ENST00000396623.3	+	3	173	c.142G>A	c.(142-144)Gag>Aag	p.E48K	ADHFE1_ENST00000415254.1_5'UTR|ADHFE1_ENST00000496501.1_Intron|ADHFE1_ENST00000379385.4_Missense_Mutation_p.E48K	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	48					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TTATGCCTTTGAGGTATATTC	0.274000													18	65					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322549	55322549	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:55322549G>T	ENST00000314644.2	+	1	767	c.767G>T	c.(766-768)aGt>aTt	p.S256I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTCATCAACAGTGGGTTTATC	0.473000										HNSCC(20;0.049)			8	60					1.06961e-07	1.39419e-07	1	1	0
PRLR	5618	broad.mit.edu	37	5	35066174	35066174	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:35066174A>C	ENST00000382002.5	-	10	1312	c.886T>G	c.(886-888)Ttg>Gtg	p.L296V	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Missense_Mutation_p.L296V|PRLR_ENST00000342362.5_Missense_Mutation_p.L195V|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.L296V|PRLR_ENST00000511486.1_Missense_Mutation_p.L195V	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	296					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGCATCCCAAGGCACTCAGT	0.438000													6	82					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082377	152082377	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:152082377G>C	ENST00000368804.1	-	2	3315	c.3316C>G	c.(3316-3318)Cgg>Ggg	p.R1106G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1106	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTCTCCCGCTCCTGGCGC	0.617000													42	193					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57648337	57648337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:57648337G>T	ENST00000269834.1	-	4	530	c.145C>A	c.(145-147)Caa>Aaa	p.Q49K		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTCCCCTTGTCCTGTGATG	0.498000													27	67					2.4375e-19	3.98863e-19	1	1	0
VAC14	55697	broad.mit.edu	37	16	70778352	70778352	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:70778352C>A	ENST00000261776.5	-	13	1762	c.1502G>T	c.(1501-1503)gGc>gTc	p.G501V		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	501					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCCGGCTCTGCCAGGGGTGGG	0.647000													7	47					1.08611e-07	1.41082e-07	1	1	0
PGLYRP3	114771	broad.mit.edu	37	1	153279556	153279556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:153279556G>T	ENST00000290722.1	-	2	295	c.243C>A	c.(241-243)tgC>tgA	p.C81*		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	81					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACGCCACGTCGCACCAGCCTA	0.582000													4	28					0.217242	0.218108	1	1	0
ANO2	57101	broad.mit.edu	37	12	5853336	5853336	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:5853336G>T	ENST00000356134.5	-	13	1400	c.1329C>A	c.(1327-1329)ttC>ttA	p.F443L	ANO2_ENST00000546188.1_Missense_Mutation_p.F443L|ANO2_ENST00000327087.8_Missense_Mutation_p.F442L	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	447						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACAGAGCCATGAAGATAGAGA	0.542000													15	41					3.41278e-10	4.74276e-10	1	1	0
ATP8B2	57198	broad.mit.edu	37	1	154313336	154313336	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:154313336G>T	ENST00000368489.3	+	13	1140	c.1140G>T	c.(1138-1140)gaG>gaT	p.E380D	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Missense_Mutation_p.E366D	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	366					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAGTGTGGAGGTCATCCGTC	0.607000													39	91					9.14704e-12	1.32474e-11	1	1	0
PNPLA1	285848	broad.mit.edu	37	6	36262158	36262158	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:36262158G>T	ENST00000394571.2	+	4	696	c.696G>T	c.(694-696)ttG>ttT	p.L232F	PNPLA1_ENST00000388715.3_Missense_Mutation_p.L137F|PNPLA1_ENST00000312917.5_Missense_Mutation_p.L146F	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	232					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCCACGCATTGTTCCCCCCGG	0.622000													24	57					5.45727e-16	8.52416e-16	1	1	0
DACT1	51339	broad.mit.edu	37	14	59112433	59112433	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:59112433T>A	ENST00000395153.3	+	4	1128	c.981T>A	c.(979-981)gcT>gcA	p.A327A	DACT1_ENST00000395151.3_Silent_p.A83A|DACT1_ENST00000335867.4_Silent_p.A364A|DACT1_ENST00000556859.1_Silent_p.A83A|DACT1_ENST00000541264.2_Silent_p.A83A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	364					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCGTGAACGCTGACCCCACGA	0.517000													19	43					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950710	38950710	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:38950710C>G	ENST00000357387.3	-	31	3270	c.3240G>C	c.(3238-3240)aaG>aaC	p.K1080N	RICTOR_ENST00000296782.5_Missense_Mutation_p.K1080N	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1080					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AATTTTTATCCTTTATGGGTC	0.383000													22	559					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72341016	72341016	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:72341016G>T	ENST00000389916.4	+	7	837	c.699G>T	c.(697-699)cgG>cgT	p.R233R		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	233	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGCGCAGCCGGGTCAAGAACA	0.692000													12	34					2.27111e-07	2.90027e-07	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56606832	56606832	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:56606832G>T	ENST00000336078.4	+	6	3460	c.2684G>T	c.(2683-2685)gGc>gTc	p.G895V	ZNF532_ENST00000591083.1_Missense_Mutation_p.G895V|ZNF532_ENST00000591808.1_Missense_Mutation_p.G895V|ZNF532_ENST00000591230.1_Missense_Mutation_p.G895V|ZNF532_ENST00000589288.1_Missense_Mutation_p.G895V	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	895					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAGCATCCTGGCATCAAGATA	0.428000													19	77					1.96292e-10	2.75319e-10	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212426632	212426632	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:212426632G>T	ENST00000342788.4	-	20	2793	c.2483C>A	c.(2482-2484)gCt>gAt	p.A828D	ERBB4_ENST00000402597.1_Missense_Mutation_p.A818D|ERBB4_ENST00000436443.1_Missense_Mutation_p.A828D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	828	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACTTACCTTAGCTATCTGGAC	0.393000										TSP Lung(8;0.080)			13	87					0.00136819	0.00145889	1	1	0
CD101	9398	broad.mit.edu	37	1	117568211	117568211	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:117568211G>A	ENST00000256652.4	+	8	2567	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	CD101_ENST00000369470.1_Missense_Mutation_p.E837K|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	837	Ig-like C2-type 7.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGCAGCCTGGAGAGTGTAGG	0.478000													9	80					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037302	75037302	+	Silent	SNP	C	C	T	rs4366277		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:75037302C>T	ENST00000326665.5	-	14	4310	c.4092G>A	c.(4090-4092)gaG>gaA	p.E1364E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1364	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCGGCTGTCTCCGAACCTG	0.517000													46	120					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589451	136589451	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:136589451G>A	ENST00000531224.1	-	10	2498	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S747F|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S747F|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S749F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S576F|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S747F	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	749	Poly-Ser.				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAAGATCGAGAATGATCTTG	0.343000													6	64					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130564	34130564	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:34130564G>A	ENST00000389232.4	+	89	12453	c.12383G>A	c.(12382-12384)gGt>gAt	p.G4128D	RYR3_ENST00000415757.3_Missense_Mutation_p.G4123D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4128					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAATTGCGGGTGAAGAGGAA	0.493000													40	82					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247463969	247463969	+	Missense_Mutation	SNP	C	C	A	rs144745098		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:247463969C>A	ENST00000294753.4	-	9	2080	c.1616G>T	c.(1615-1617)cGg>cTg	p.R539L	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.R575L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	539					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCTGCGGTGCCGAGCCAGGTG	0.612000													13	119					4.36969e-10	6.03928e-10	1	1	0
ATP5L	10632	broad.mit.edu	37	11	118279722	118279722	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:118279722T>A	ENST00000300688.3	+	3	733	c.221T>A	c.(220-222)gTg>gAg	p.V74E	ATP5L_ENST00000529770.1_3'UTR|ATP5L_ENST00000524422.1_Intron	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G	74					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		CAGGAAGCTGTGCTGAATGGT	0.333000													5	69					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117375441	117375441	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:117375441C>T	ENST00000160373.3	-	15	3661	c.3570G>A	c.(3568-3570)aaG>aaA	p.K1190K		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1190										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGATTTTCTTCTTACTGGGAG	0.338000													8	161					0	0	1	0	0
CRH	1392	broad.mit.edu	37	8	67089250	67089250	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:67089250C>G	ENST00000276571.3	-	2	909	c.463G>C	c.(463-465)Gag>Cag	p.E155Q		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	155					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	GGAGGCTCCTCGGACCGCCTT	0.672000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	27					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58560058	58560058	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:58560058C>T	ENST00000348616.4	+	7	1011	c.711C>T	c.(709-711)acC>acT	p.T237T	CDH26_ENST00000244047.5_Silent_p.T237T	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	237	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCACATAGACCGCTCCTCAGT	0.433000													8	40					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402858	124402858	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:124402858G>A	ENST00000368909.3	+	53	7292	c.7186G>A	c.(7186-7188)Gtc>Atc	p.V2396I	DMBT1_ENST00000368955.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000359586.6_Missense_Mutation_p.V1116I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1768I|DMBT1_ENST00000338354.3_Missense_Mutation_p.V2396I|DMBT1_ENST00000330163.4_Missense_Mutation_p.V1768I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V2386I	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2396					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTGGACGTCGTCCTGGGTCC	0.647000													18	32					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541528	55541528	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:55541528C>A	ENST00000361760.1	+	1	615	c.615C>A	c.(613-615)gcC>gcA	p.A205A		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTATTATTGCCATATTCAATG	0.383000													25	154					0.000586117	0.000638479	1	1	0
PLCB1	23236	broad.mit.edu	37	20	8609055	8609055	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:8609055G>T	ENST00000378641.3	+	4	836	c.361G>T	c.(361-363)Gct>Tct	p.A121S	PLCB1_ENST00000378637.2_Missense_Mutation_p.A121S|PLCB1_ENST00000338037.6_Missense_Mutation_p.A121S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	121					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAATCTCGTGGCTTTCCAAGA	0.473000													24	90					7.38237e-10	1.0129e-09	1	1	0
OR9G1	390174	broad.mit.edu	37	11	56468325	56468325	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:56468325C>A	ENST00000312153.1	+	1	462	c.462C>A	c.(460-462)aaC>aaA	p.N154K		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GCTTTATTAACTCTTCAATCA	0.458000													12	199					0.000978159	0.00105041	1	1	0
LIFR	3977	broad.mit.edu	37	5	38481840	38481840	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:38481840T>A	ENST00000263409.4	-	20	3313	c.3151A>T	c.(3151-3153)Aac>Tac	p.N1051Y	LIFR_ENST00000453190.2_Missense_Mutation_p.N1051Y	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1051					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCTCACTGTTGCTGTCTATG	0.418000			T	PLAG1	salivary adenoma								139	126					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62812728	62812728	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:62812728C>A	ENST00000512091.1	+	15	3059	c.2312C>A	c.(2311-2313)aCa>aAa	p.T771K	LPHN3_ENST00000508693.1_Missense_Mutation_p.T839K|LPHN3_ENST00000506700.1_Missense_Mutation_p.T771K|LPHN3_ENST00000507625.1_Missense_Mutation_p.T839K|LPHN3_ENST00000508946.1_Missense_Mutation_p.T771K|LPHN3_ENST00000545650.1_Missense_Mutation_p.T771K|LPHN3_ENST00000506746.1_Missense_Mutation_p.T839K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000507164.1_Missense_Mutation_p.T839K|LPHN3_ENST00000514996.1_Missense_Mutation_p.T771K|LPHN3_ENST00000509896.1_Missense_Mutation_p.T839K|LPHN3_ENST00000514157.1_Missense_Mutation_p.T771K|LPHN3_ENST00000504896.1_Missense_Mutation_p.T771K|LPHN3_ENST00000506720.1_Missense_Mutation_p.T839K|LPHN3_ENST00000514591.1_Missense_Mutation_p.T771K|LPHN3_ENST00000511324.1_Missense_Mutation_p.T839K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	758					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCTTTGTCCACAAATCATTCT	0.403000													20	200					2.39187e-15	3.71305e-15	1	1	0
RASSF2	9770	broad.mit.edu	37	20	4770300	4770300	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:4770300C>A	ENST00000379400.3	-	8	776	c.581G>T	c.(580-582)cGc>cTc	p.R194L	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R194L	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	194	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding	p.R194L(2)|p.R194H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTGTTGATGCGGACGTTGGT	0.547000													11	58					3.07112e-06	3.69708e-06	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31283197	31283197	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:31283197C>G	ENST00000544665.3	+	7	659	c.588C>G	c.(586-588)ttC>ttG	p.F196L	ITGAM_ENST00000287497.8_Missense_Mutation_p.F196L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	196	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGAAGAATTCCGGATTCACT	0.557000													16	45					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354208	10354208	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:10354208C>A	ENST00000255381.2	-	29	3980	c.3870G>T	c.(3868-3870)gaG>gaT	p.E1290D	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1290					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTCGTGAAAACTCACCTGTGG	0.353000													38	73					1.59361e-14	2.4388e-14	1	1	0
FBN2	2201	broad.mit.edu	37	5	127800434	127800434	+	Missense_Mutation	SNP	C	C	A	rs148971572	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:127800434C>A	ENST00000508053.1	-	12	1783	c.809G>T	c.(808-810)cGc>cTc	p.R270L	FBN2_ENST00000508989.1_Missense_Mutation_p.R237L|FBN2_ENST00000262464.4_Missense_Mutation_p.R270L			P35556	FBN2_HUMAN	fibrillin 2	270					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCTCCAGTGCGGATGTTGGG	0.592000													9	57					7.48243e-07	9.243e-07	1	1	0
TICAM1	148022	broad.mit.edu	37	19	4817343	4817343	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:4817343G>C	ENST00000248244.5	-	2	1276	c.1047C>G	c.(1045-1047)tgC>tgG	p.C349W		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	349	Pro-rich.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GAGTAGGTGGGCACGGCTTGG	0.557000													21	40					0	0	1	0	0
TMEM89	440955	broad.mit.edu	37	3	48658349	48658349	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:48658349T>A	ENST00000330862.3	-	2	504	c.406A>T	c.(406-408)Atc>Ttc	p.I136F		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	136						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGGCCTTCGATGTGGACCAGG	0.607000													36	82					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632712	32632712	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:32632712C>A	ENST00000242310.4	-	1	2955	c.2866G>T	c.(2866-2868)Gcc>Tcc	p.A956S		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	956					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCAATGAAGGCCCTTGTGGTG	0.478000													18	132					4.75885e-15	7.35724e-15	1	1	0
AE000661.37	0	broad.mit.edu	37	14	22934742	22934742	+	RNA	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:22934742A>T	ENST00000514473.2	-	0	225				TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA																							TTTATGTCCTAACTGCTTTGT	0.388000													13	61					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144859821	144859821	+	Missense_Mutation	SNP	G	G	A	rs71923781		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:144859821G>A	ENST00000369359.4	-	41	6709	c.6671C>T	c.(6670-6672)tCc>tTc	p.S2224F	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2173F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S2088F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1982F|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S2088F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2088					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)		GTTAATGGAGGAGGGGCTGAG	0.572000			T	PDGFRB	MPD								12	92					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599525	179599525	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:179599525C>T	ENST00000589042.1	-	51	15350	c.15126G>A	c.(15124-15126)acG>acA	p.T5042T	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.T3798T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.T4725T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4725	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTACATCCGTAATATCAA	0.373000													12	102					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116729004	116729004	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:116729004T>C	ENST00000375300.1	-	20	3038	c.3033A>G	c.(3031-3033)caA>caG	p.Q1011Q	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Silent_p.Q951Q|SIK3_ENST00000375288.1_Silent_p.Q288Q|SIK3_ENST00000434315.2_Silent_p.Q792Q|SIK3_ENST00000292055.4_Silent_p.Q953Q|SIK3_ENST00000542607.1_Silent_p.Q893Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	953						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATTCTtgctgttgctgctgtt	0.592000													5	45					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76174925	76174925	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:76174925G>T	ENST00000529032.1	+	6	632	c.632G>T	c.(631-633)aGc>aTc	p.S211I	C11orf30_ENST00000343878.3_Missense_Mutation_p.S211I|C11orf30_ENST00000334736.3_Missense_Mutation_p.S211I|C11orf30_ENST00000533248.1_Missense_Mutation_p.S225I|C11orf30_ENST00000525919.1_Missense_Mutation_p.S212I|C11orf30_ENST00000525038.1_Missense_Mutation_p.S226I|C11orf30_ENST00000524767.1_Missense_Mutation_p.S226I|C11orf30_ENST00000524490.1_Missense_Mutation_p.S212I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	211	Interaction with BRCA2.|Poly-Ser.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AACTCTTCCAGCTCCTCTCCT	0.448000													73	118					1.92865e-43	3.48818e-43	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62288392	62288392	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:62288392T>C	ENST00000378024.4	-	5	13771	c.13497A>G	c.(13495-13497)gaA>gaG	p.E4499E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4499					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)				TGAGCTTCCCTTCAGGACCTT	0.443000													13	105					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651010	90651010	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:90651010G>T	ENST00000282146.4	+	2	1331	c.890G>T	c.(889-891)gGg>gTg	p.G297V		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	297						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ATGGACAGCGGGTGCTGCCCG	0.532000													17	91					6.49762e-13	9.59414e-13	1	1	0
ABCB8	11194	broad.mit.edu	37	7	150730965	150730965	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:150730965T>C	ENST00000358849.4	+	2	462	c.369T>C	c.(367-369)ttT>ttC	p.F123F	ABCB8_ENST00000477719.1_Silent_p.F123F|ABCB8_ENST00000477092.1_Silent_p.F123F|ABCB8_ENST00000297504.6_Silent_p.F140F|ABCB8_ENST00000356058.4_Silent_p.F160F|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000498578.1_Silent_p.F123F|ABCB8_ENST00000493338.1_3'UTR	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	140						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTGGCAGTTTCTGCACCCCC	0.622000													10	50					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92523266	92523266	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:92523266A>T	ENST00000298047.6	+	7	4510	c.4493A>T	c.(4492-4494)cAt>cTt	p.H1498L	FAT3_ENST00000409404.2_Missense_Mutation_p.H1498L|FAT3_ENST00000525166.1_Missense_Mutation_p.H1348L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1498	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)				TACACTGTTCATAGCAGCATC	0.512000										TCGA Ovarian(4;0.039)			42	171					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6978258	6978258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:6978258G>T	ENST00000389658.3	-	43	6220	c.6127C>A	c.(6127-6129)Ctg>Atg	p.L2043M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2043	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCCTGGACAGGCTGGCAGAT	0.597000													14	108					9.31168e-06	1.11387e-05	1	1	0
MGAM	8972	broad.mit.edu	37	7	141794611	141794611	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:141794611A>T	ENST00000475668.2	+	63	7460	c.7406A>T	c.(7405-7407)cAg>cTg	p.Q2469L	MGAM_ENST00000549489.2_Missense_Mutation_p.Q1573L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1573					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGCTGGATGCAGCTGGGGGCC	0.498000													5	35					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17883113	17883113	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:17883113C>A	ENST00000448223.2	-	20	2475	c.2206G>T	c.(2206-2208)Gta>Tta	p.V736L	SMC6_ENST00000351948.4_Missense_Mutation_p.V736L|SMC6_ENST00000381272.4_Missense_Mutation_p.V762L|SMC6_ENST00000402989.1_Missense_Mutation_p.V736L	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	736					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCAATATCTACAGACTGGTGT	0.269000													7	9					2.17888e-05	2.56179e-05	1	1	0
TGFB1	7040	broad.mit.edu	37	19	41847918	41847918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:41847918G>A	ENST00000221930.5	-	5	1596	c.730C>T	c.(730-732)Cga>Tga	p.R244*		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	244					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	AGGTCACCTCGGCGGCCGGTA	0.617000													7	28					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110883936	110883936	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:110883936G>T	ENST00000369784.3	+	1	2809	c.1909G>T	c.(1909-1911)Gac>Tac	p.D637Y	RBM15_ENST00000487146.2_Missense_Mutation_p.D637Y|RBM15_ENST00000602849.1_Missense_Mutation_p.D637Y	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	637	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGCAGCAGAGACCAGCCTAG	0.592000			T	MKL1	acute megakaryocytic leukemia								11	32					1.58986e-06	1.93237e-06	1	1	0
WNT10A	80326	broad.mit.edu	37	2	219754997	219754997	+	Missense_Mutation	SNP	G	G	T	rs143424659		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:219754997G>T	ENST00000258411.3	+	3	1301	c.668G>T	c.(667-669)cGc>cTc	p.R223L		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	223					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCGGGGAGCGCTTTTCTAAG	0.647000													9	31					7.48243e-07	9.243e-07	1	1	0
PCCB	5096	broad.mit.edu	37	3	135969287	135969287	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:135969287G>A	ENST00000471595.1	+	1	88	c.70G>A	c.(70-72)Gcg>Acg	p.A24T	PCCB_ENST00000483687.1_Missense_Mutation_p.A24T|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000251654.4_Missense_Mutation_p.A24T|PCCB_ENST00000482086.1_Missense_Mutation_p.A24T|PCCB_ENST00000490504.1_Missense_Mutation_p.A24T|PCCB_ENST00000478469.1_Missense_Mutation_p.A24T|PCCB_ENST00000466072.1_Missense_Mutation_p.A24T|PCCB_ENST00000468777.1_Missense_Mutation_p.A24T|PCCB_ENST00000462637.1_Missense_Mutation_p.A24T|PCCB_ENST00000469217.1_Missense_Mutation_p.A24T			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	24					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TCTCCGCGCCGCGGTCCGCAG	0.692000											OREG0015823	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	8					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92224265	92224265	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:92224265G>T	ENST00000212355.4	-	4	754	c.289C>A	c.(289-291)Cac>Aac	p.H97N	TGFBR3_ENST00000525962.1_Missense_Mutation_p.H97N|TGFBR3_ENST00000370399.2_Missense_Mutation_p.H97N|TGFBR3_ENST00000468996.2_5'UTR	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	97					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ACAGACTTGTGGTGGATGTGG	0.507000													13	128					7.03913e-09	9.48588e-09	1	1	0
GFI1	2672	broad.mit.edu	37	1	92948935	92948935	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:92948935C>G	ENST00000370332.1	-	2	428	c.110G>C	c.(109-111)cGa>cCa	p.R37P	GFI1_ENST00000427103.1_Missense_Mutation_p.R37P|GFI1_ENST00000483490.1_5'UTR|GFI1_ENST00000294702.5_Missense_Mutation_p.R37P	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	37					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CGCACCTGCTCGGCTAGGCGC	0.647000													7	21					0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27071170	27071170	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr21:27071170G>A	ENST00000480456.1	+	5	1126	c.576G>A	c.(574-576)atG>atA	p.M192I	JAM2_ENST00000312957.5_Missense_Mutation_p.M192I|JAM2_ENST00000425221.2_Missense_Mutation_p.M156I|JAM2_ENST00000400532.1_Missense_Mutation_p.M192I	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	192	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CATACACAATGAATACAAAAA	0.378000													18	81					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796746	109796746	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:109796746G>C	ENST00000297459.3	-	2	760	c.582C>G	c.(580-582)atC>atG	p.I194M	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	194					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CGATGTAAGAGATGATCACGA	0.552000													24	60					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108810978	108810978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:108810978C>T	ENST00000322536.3	+	18	2585	c.2456C>T	c.(2455-2457)aCc>aTc	p.T819I	DDX10_ENST00000534221.1_3'UTR	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	819							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ACCAGTGATACCAAGAAGAAG	0.393000			T	NUP98	AML*								5	68					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72432731	72432731	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:72432731A>G	ENST00000425175.1	+	24	3227	c.3110A>G	c.(3109-3111)cAc>cGc	p.H1037R	SLC4A4_ENST00000351898.6_Silent_p.S985S|SLC4A4_ENST00000340595.3_Silent_p.S1025S|SLC4A4_ENST00000264485.5_Silent_p.S1069S	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	70						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAGAAAGATCACCAACATTCC	0.338000													11	48					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128480720	128480720	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:128480720C>A	ENST00000325888.8	+	10	1929	c.1668C>A	c.(1666-1668)atC>atA	p.I556I	FLNC_ENST00000346177.6_Silent_p.I556I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	556					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCTACGCCATCCCTCGCAGGT	0.637000													23	90					2.27731e-05	2.66921e-05	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248308625	248308625	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:248308625T>C	ENST00000366476.1	+	1	176	c.176T>C	c.(175-177)aTg>aCg	p.M59T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CACACCCCCATGTACTTCCTC	0.512000													55	545					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51135968	51135968	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:51135968C>A	ENST00000338916.4	-	2	882	c.249G>T	c.(247-249)tgG>tgT	p.W83C	SYT3_ENST00000600079.1_Missense_Mutation_p.W83C|SYT3_ENST00000544769.1_Missense_Mutation_p.W83C|SYT3_ENST00000593901.1_Missense_Mutation_p.W83C	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	83						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCTTGTCCCGCCAGGGCACCC	0.652000													12	63					0.010729	0.0111112	1	1	0
PTGS2	5743	broad.mit.edu	37	1	186645994	186645994	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:186645994G>T	ENST00000367468.5	-	6	830	c.694C>A	c.(694-696)Ctt>Att	p.L232I	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	232					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TCCTTGAAAAGGCGCAGTTTA	0.318000													59	202					4.45325e-31	7.84769e-31	1	1	0
GPR35	2859	broad.mit.edu	37	2	241569824	241569824	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:241569824G>T	ENST00000319838.5	+	6	1397	c.455G>T	c.(454-456)tGg>tTg	p.W152L	GPR35_ENST00000407714.1_Missense_Mutation_p.W152L|GPR35_ENST00000403859.1_Missense_Mutation_p.W152L|GPR35_ENST00000430267.1_Missense_Mutation_p.W152L|GPR35_ENST00000438013.2_Missense_Mutation_p.W183L	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	152						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GTGGCTCGCTGGCTCCTGGGG	0.701000													6	44					0.00198382	0.00210346	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107575875	107575875	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:107575875T>C	ENST00000393561.1	-	25	4429	c.4245A>G	c.(4243-4245)tcA>tcG	p.S1415S	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000222399.6_Silent_p.S1391S			P07942	LAMB1_HUMAN	laminin, beta 1	1391	Domain alpha.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCAGCGGCTGAAAGGTCTA	0.438000													12	215					0	0	1	0	0
ADM2	79924	broad.mit.edu	37	22	50921163	50921163	+	Missense_Mutation	SNP	G	G	A	rs72438078		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr22:50921163G>A	ENST00000395738.2	+	2	570	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	ADM2_ENST00000362068.2_Missense_Mutation_p.E10K|ADM2_ENST00000395737.1_Missense_Mutation_p.R93Q	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	93					positive regulation of angiogenesis	extracellular region	hormone activity	p.H95_R100delHSGPRR(1)		breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGGGCCCCCGAAGACACTCG	0.692000													6	12					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66467859	66467859	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:66467859C>A	ENST00000273854.3	-	3	1010	c.410G>T	c.(409-411)tGc>tTc	p.C137F	EPHA5_ENST00000432638.2_Missense_Mutation_p.C137F|EPHA5_ENST00000511294.1_Missense_Mutation_p.C137F|EPHA5_ENST00000354839.4_Missense_Mutation_p.C137F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	137					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAGGCTGTTGCAGTCCCGCAG	0.428000										TSP Lung(17;0.13)			20	83					2.98393e-07	3.80414e-07	1	1	0
LINC00521	256369	broad.mit.edu	37	14	94464474	94464474	+	RNA	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:94464474G>C	ENST00000444118.1	+	0	154					NR_024182.1																						GCGGTGGTGAGGTGATGGCAG	0.582000													3	25					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35881308	35881308	+	Silent	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:35881308A>T	ENST00000314607.6	+	28	4382	c.4302A>T	c.(4300-4302)tcA>tcT	p.S1434S	ZMYM4_ENST00000373297.2_Silent_p.S1345S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1434					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCAGGAGTCAGAACCAGGTA	0.413000													19	40					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42930740	42930740	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:42930740C>G	ENST00000426333.2	-	25	2782	c.2485G>C	c.(2485-2487)Gag>Cag	p.E829Q	EFTUD2_ENST00000402521.3_Missense_Mutation_p.E794Q|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E819Q|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E829Q	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	829						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)				TAGTAAGGCTCCATCAGACGA	0.587000													30	96					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8999176	8999176	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:8999176C>G	ENST00000344836.4	-	14	1639	c.1441G>C	c.(1441-1443)Gat>Cat	p.D481H	USP7_ENST00000381886.4_Missense_Mutation_p.D465H|USP7_ENST00000535863.1_Missense_Mutation_p.D382H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	481					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACGTCGTCATCAAATTTACAC	0.458000											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	97					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118560423	118560423	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:118560423A>G	ENST00000311085.8	+	37	8314	c.8234A>G	c.(8233-8235)aAt>aGt	p.N2745S	DMXL1_ENST00000539542.1_Missense_Mutation_p.N2766S|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2745										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAAGCCATTAATAATGTTAGA	0.244000													10	52					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101755671	101755671	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:101755671C>A	ENST00000251127.6	-	26	2990	c.2909G>T	c.(2908-2910)tGt>tTt	p.C970F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	970						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGCATCCAACAAAGAAATAT	0.453000													18	47					7.07596e-05	8.10519e-05	1	1	0
WDR63	126820	broad.mit.edu	37	1	85592345	85592345	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:85592345C>A	ENST00000294664.6	+	20	2444	c.2264C>A	c.(2263-2265)tCt>tAt	p.S755Y	WDR63_ENST00000370596.1_Missense_Mutation_p.S716Y|WDR63_ENST00000326813.8_Missense_Mutation_p.S716Y	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	755										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCAGCCCAGTCTCAAAACATT	0.433000													17	91					3.32936e-07	4.21607e-07	1	1	0
ZNF572	137209	broad.mit.edu	37	8	125988735	125988735	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:125988735G>T	ENST00000319286.5	+	3	379	c.225G>T	c.(223-225)tgG>tgT	p.W75C		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CACTGACATGGGTTCAAGATG	0.388000										HNSCC(60;0.17)			22	70					1.37657e-19	2.26728e-19	1	1	0
PIGQ	9091	broad.mit.edu	37	16	624190	624190	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:624190C>G	ENST00000321878.5	+	2	275	c.116C>G	c.(115-117)cCc>cGc	p.P39R	PIGQ_ENST00000409527.2_Missense_Mutation_p.P39R|PIGQ_ENST00000026218.5_Missense_Mutation_p.P39R|PIGQ_ENST00000470411.2_Missense_Mutation_p.P39R	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	39					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTGCACTTTCCCTTCATCCCC	0.701000													7	21					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133070955	133070955	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:133070955C>T	ENST00000326499.6	-	6	1374	c.1250G>A	c.(1249-1251)cGg>cAg	p.R417Q	VNN2_ENST00000525270.1_Missense_Mutation_p.R364Q|VNN2_ENST00000525289.1_Missense_Mutation_p.R196Q	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	417					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TTCTACTGGCCGTCCACAAGT	0.408000													6	66					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927203	53927203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:53927203C>A	ENST00000371445.3	+	2	690	c.635C>A	c.(634-636)tCc>tAc	p.S212Y	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	212	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCTGGTGGCTCCAGCATGCAC	0.652000													16	120					1.15088e-07	1.48729e-07	1	1	0
DPY19L4	286148	broad.mit.edu	37	8	95802050	95802050	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:95802050C>T	ENST00000414645.2	+	19	2183	c.2084C>T	c.(2083-2085)tCt>tTt	p.S695F		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	695						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTAACTATTCTCCATATGTG	0.313000													26	113					0	0	1	0	0
MEOX1	4222	broad.mit.edu	37	17	41738734	41738734	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:41738734C>A	ENST00000318579.4	-	1	588	c.169G>T	c.(169-171)Gca>Tca	p.A57S	MEOX1_ENST00000549132.1_Silent_p.R27R|MEOX1_ENST00000329168.3_Missense_Mutation_p.A57S|MEOX1_ENST00000393661.2_5'UTR	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	57						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GGGTACGCTGCCGTCGCTGTC	0.642000													23	45					6.21321e-17	9.86804e-17	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57181839	57181839	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:57181839C>T	ENST00000504228.1	+	6	2276	c.2171C>T	c.(2170-2172)gCc>gTc	p.A724V	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A724V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A717V			Q6ZU35	K1211_HUMAN	KIAA1211	724										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ATTATGCCTGCCTGGCAGAAA	0.557000													13	74					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54041979	54041979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:54041979G>T	ENST00000373980.4	+	14	2029	c.1612G>T	c.(1612-1614)Gag>Tag	p.E538*	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Nonsense_Mutation_p.E241*|PRKG1_ENST00000401604.2_Nonsense_Mutation_p.E523*|PRKG1_ENST00000373985.1_Nonsense_Mutation_p.E511*	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	523	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TGGGACTCCAGAGTATGTAGC	0.418000													30	44					3.1745e-13	4.72425e-13	1	1	0
C9orf72	203228	broad.mit.edu	37	9	27562475	27562475	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:27562475C>A	ENST00000380003.3	-	4	568		c.e4-1		C9orf72_ENST00000488117.1_Splice_Site|C9orf72_ENST00000379997.3_Splice_Site	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72											breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TACTCTGACCCTGCACAATAA	0.333000													9	33					0.000442599	0.000482836	1	1	0
IGHM	3507	broad.mit.edu	37	14	106321254	106321254	+	RNA	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:106321254C>T	ENST00000390559.2	-	0	734																											GGTCTGTGACCAGGCAGGTCA	0.567000													46	107					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79408995	79408995	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:79408995C>G	ENST00000307745.7	+	9	620	c.620C>G	c.(619-621)tCc>tGc	p.S207C																								GAGGCAGGCTCCCTGCAGAAG	0.711000													5	64					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150432716	150432716	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:150432716T>G	ENST00000401000.4	+	8	1321	c.1256T>G	c.(1255-1257)tTg>tGg	p.L419W	RPRD2_ENST00000369068.4_Missense_Mutation_p.L445W|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.L419W			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	445							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCATTGGCTTTGCCAAACCTG	0.473000													9	26					0	0	1	0	0
C19orf59	199675	broad.mit.edu	37	19	7742570	7742570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:7742570C>T	ENST00000333598.3	+	2	596	c.142C>T	c.(142-144)Cag>Tag	p.Q48*	C19orf59_ENST00000597445.1_Intron	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	48						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CTTCAAAAATCAGGACCATGC	0.577000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	54					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294243	29294243	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:29294243T>A	ENST00000331664.5	-	1	2884	c.2885A>T	c.(2884-2886)cAc>cTc	p.H962L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	962					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGGGCCGGAGTGGTGCCAGGC	0.647000													4	57					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165514132	165514132	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:165514132T>A	ENST00000294818.1	+	1	889	c.599T>A	c.(598-600)aTa>aAa	p.I200K	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	200	LRRCT.					integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ATCTTCTTAATAGTGTTCCAT	0.498000													37	157					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154201188	154201188	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:154201188G>T	ENST00000428931.1	+	4	433	c.266G>T	c.(265-267)gGa>gTa	p.G89V	UBAP2L_ENST00000271877.7_Missense_Mutation_p.G89V|UBAP2L_ENST00000361546.2_Missense_Mutation_p.G89V|UBAP2L_ENST00000343815.6_Missense_Mutation_p.G89V	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	89	UBA.				binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTCTGGAAGGAAACCCAGAC	0.423000													12	104					4.3838e-07	5.53281e-07	1	1	0
ZNF585A	199704	broad.mit.edu	37	19	37644259	37644259	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:37644259A>G	ENST00000356958.4	-	5	800	c.542T>C	c.(541-543)aTg>aCg	p.M181T	ZNF585A_ENST00000355533.2_Missense_Mutation_p.M126T|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.M126T|ZNF585A_ENST00000392157.2_Missense_Mutation_p.M126T			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCTCTCTCATATGGGTTTT	0.393000													20	108					0	0	1	0	0
LCE2D	353141	broad.mit.edu	37	1	152636817	152636817	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:152636817G>T	ENST00000368784.1	+	2	291	c.236G>T	c.(235-237)cGt>cTt	p.R79L		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	79	Cys-rich.				keratinization			p.R79H(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGGCCCCGTCTCTTCCAC	0.682000													55	143					4.09106e-26	7.07745e-26	1	1	0
LDLRAD4	753	broad.mit.edu	37	18	13645348	13645348	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:13645348G>T	ENST00000361205.4	+	7	1281	c.613G>T	c.(613-615)Gtg>Ttg	p.V205L	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.V168L|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.V205L|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.V107L|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.V128L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.V150L|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.V187L	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		CCGAGAGTCCGTGAGGGCCCC	0.582000													11	81					6.40141e-05	7.34365e-05	1	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	58					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33692207	33692207	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:33692207T>C	ENST00000336934.5	-	8	2392	c.2276A>G	c.(2275-2277)tAt>tGt	p.Y759C	STARD13_ENST00000399365.3_Missense_Mutation_p.Y641C|STARD13_ENST00000255486.4_Missense_Mutation_p.Y751C	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	759	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTTACACTGATAGATATGGAG	0.403000													27	47					0	0	1	0	0
FAM78A	286336	broad.mit.edu	37	9	134136376	134136376	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:134136376C>A	ENST00000372271.3	-	2	1052	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.A226S	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	229										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CGCAGCCGGGCGCGCTGGCCC	0.652000													23	66					1.9806e-07	2.55082e-07	1	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21769217	21769217	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:21769217G>T	ENST00000206660.6	+	3	311	c.311G>T	c.(310-312)gGg>gTg	p.G104V	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.G104V|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.G104V|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.G104V			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	104					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GCAAGGCGCGGGCAGAAGGCG	0.726000													6	37					5.9392e-07	7.42155e-07	1	1	0
EXPH5	23086	broad.mit.edu	37	11	108382102	108382102	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:108382102C>G	ENST00000265843.4	-	6	4242	c.4132G>C	c.(4132-4134)Gat>Cat	p.D1378H	EXPH5_ENST00000525344.1_Missense_Mutation_p.D1371H|EXPH5_ENST00000443411.1_Missense_Mutation_p.D1190H|EXPH5_ENST00000428840.1_Missense_Mutation_p.D1302H	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1378					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTTCTGAATCACCTAGAGGT	0.373000													28	67					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71078980	71078980	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:71078980C>A	ENST00000452400.2	-	7	732	c.551G>T	c.(550-552)gGa>gTa	p.G184V		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	184					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGACCAAGATCCCCCATTTAC	0.408000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								48	187					1.47857e-17	2.38337e-17	1	1	0
EVPL	2125	broad.mit.edu	37	17	74003663	74003663	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:74003663C>T	ENST00000301607.3	-	22	5876	c.5623G>A	c.(5623-5625)Gag>Aag	p.E1875K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1897K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1875	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GAGTAGCGCTCACGGCTGAGC	0.632000													11	131					0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267221	66267221	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:66267221G>T	ENST00000327268.4	-	6	1244	c.1080C>A	c.(1078-1080)taC>taA	p.Y360*	SLC16A6_ENST00000580666.1_Nonsense_Mutation_p.Y360*|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	360						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TGAGCTCAATGTAAATCTTAC	0.433000													38	104					6.05902e-23	1.02704e-22	1	1	0
TBC1D15	64786	broad.mit.edu	37	12	72290500	72290500	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:72290500T>C	ENST00000550746.1	+	10	1143	c.1079T>C	c.(1078-1080)cTg>cCg	p.L360P	TBC1D15_ENST00000485960.2_Missense_Mutation_p.L343P|TBC1D15_ENST00000393309.3_Missense_Mutation_p.L114P|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L351P	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	360	Rab-GAP TBC.						protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAATTTCTTCTGGGTTATTTT	0.338000													20	45					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73434883	73434883	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr3:73434883G>T	ENST00000263666.4	-	9	1686	c.1572C>A	c.(1570-1572)caC>caA	p.H524Q	PDZRN3_ENST00000535920.1_Missense_Mutation_p.H246Q|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.H181Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.H241Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.H181Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	524							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCATGTCCATGTGCAGGTCAT	0.562000													21	67					7.88262e-20	1.31261e-19	1	1	0
NCSTN	23385	broad.mit.edu	37	1	160314522	160314522	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:160314522G>T	ENST00000368063.1	+	3	316	c.36G>T	c.(34-36)agG>agT	p.R12S	NCSTN_ENST00000392212.4_Missense_Mutation_p.R12S|NCSTN_ENST00000294785.5_Missense_Mutation_p.R32S|NCSTN_ENST00000535857.1_Missense_Mutation_p.R32S			Q92542	NICA_HUMAN	nicastrin	32					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTTTGTGCAGGGGAAACTCAG	0.438000													14	57					2.31682e-05	2.71133e-05	1	1	0
TAF15	8148	broad.mit.edu	37	17	34171540	34171540	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:34171540G>A	ENST00000588240.1	+	15	1352	c.1237G>A	c.(1237-1239)Gga>Aga	p.G413R	TAF15_ENST00000592237.1_Missense_Mutation_p.G322R|TAF15_ENST00000311979.3_Missense_Mutation_p.G410R	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	413	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGGCAGAggtggagaccgagg	0.592000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								39	115					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191660	66191660	+	Silent	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:66191660C>G	ENST00000311034.2	+	7	1475	c.1299C>G	c.(1297-1299)ggC>ggG	p.G433G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	433					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCCAGGAGGCTGTGCCTTCC	0.557000													80	160					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115409891	115409891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:115409891G>T	ENST00000369358.4	-	9	1037	c.793C>A	c.(793-795)Cat>Aat	p.H265N	NRAP_ENST00000359988.3_Missense_Mutation_p.H265N|NRAP_ENST00000360478.3_Missense_Mutation_p.H265N|NRAP_ENST00000369360.3_Missense_Mutation_p.H265N			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	265						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TATTGTTGATGGTACCTCACC	0.443000													35	201					1.30015e-28	2.28054e-28	1	1	0
DSG3	1830	broad.mit.edu	37	18	29049188	29049188	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:29049188C>T	ENST00000257189.4	+	12	1856	c.1773C>T	c.(1771-1773)aaC>aaT	p.N591N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	591					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGTGTGACAACAGGGGCATCT	0.582000													19	92					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143028687	143028687	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:143028687C>A	ENST00000343257.2	+	10	1195	c.1108C>A	c.(1108-1110)Cgc>Agc	p.R370S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	370					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.R370S(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTATCTGCATCGCCAAGTCAT	0.478000													7	69					0.000274275	0.000301384	1	1	0
BMPER	168667	broad.mit.edu	37	7	34125418	34125418	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:34125418C>A	ENST00000297161.2	+	14	1833	c.1459C>A	c.(1459-1461)Ccg>Acg	p.P487T	BMPER_ENST00000426693.1_Missense_Mutation_p.P487T	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	487	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CATGGCTGCGCCGCATCTCAA	0.438000													17	62					5.3912e-06	6.45919e-06	1	1	0
CSGALNACT2	55454	broad.mit.edu	37	10	43678731	43678731	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:43678731G>C	ENST00000374466.3	+	8	1705	c.1370G>C	c.(1369-1371)gGa>gCa	p.G457A		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	457					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGTTGGGGTGGAGAAGATGTT	0.408000													24	164					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810867	123810867	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:123810867C>A	ENST00000307033.2	+	1	618	c.544C>A	c.(544-546)Cct>Act	p.P182T		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGTGATGTGCCTCAGCTGAT	0.478000													38	165					5.43694e-19	8.8749e-19	1	1	0
DNHD1	144132	broad.mit.edu	37	11	6524146	6524146	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:6524146C>T	ENST00000254579.6	+	4	1474	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	DNHD1_ENST00000527990.2_Missense_Mutation_p.R304W|DNHD1_ENST00000354685.3_Missense_Mutation_p.R304W	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	304					microtubule-based movement	dynein complex	microtubule motor activity	p.R304W(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCTCCCAGCCGGTACTTTAG	0.537000													17	32					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22023023	22023023	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:22023023G>C	ENST00000306385.5	+	1	775	c.105G>C	c.(103-105)gaG>gaC	p.E35D	BMP1_ENST00000354870.5_Missense_Mutation_p.E35D|BMP1_ENST00000397816.3_Missense_Mutation_p.E35D|BMP1_ENST00000306349.8_Missense_Mutation_p.E35D|BMP1_ENST00000397814.3_Missense_Mutation_p.E35D	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	35					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)		TGGCGGAGGAGGACGACTCGG	0.761000													6	9					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236908062	236908062	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:236908062C>A	ENST00000366578.4	+	12	1558	c.1392C>A	c.(1390-1392)atC>atA	p.I464I	ACTN2_ENST00000542672.1_Silent_p.I464I|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	464					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCGCAGCCATCGCGCAGGAGC	0.657000													7	48					0.0293803	0.0299751	1	1	0
TM9SF2	9375	broad.mit.edu	37	13	100193814	100193814	+	Splice_Site	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:100193814A>G	ENST00000376387.4	+	9	1100	c.908_splice	c.e9-1	p.I304_splice		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	304					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TTTCTACAGCATTATGAATTC	0.333000													33	64					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133894759	133894759	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:133894759G>C	ENST00000220616.4	+	7	831	c.791G>C	c.(790-792)gGc>gCc	p.G264A	TG_ENST00000377869.1_Missense_Mutation_p.G264A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	264	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATTTTTGCTGGCCTGGACCTT	0.478000													55	217					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099917	50099917	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:50099917G>T	ENST00000418929.2	+	4	2337	c.2325G>T	c.(2323-2325)caG>caT	p.Q775H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	476							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGTCTACCCAGCCCACTCCCC	0.701000													4	29					0.014758	0.015159	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725511	140725511	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:140725511G>T	ENST00000253812.6	+	1	1911	c.1911G>T	c.(1909-1911)gcG>gcT	p.A637A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACGCGCTCAAGCAGA	0.701000													23	78					3.11337e-16	4.88322e-16	1	1	0
TRMT2B	79979	broad.mit.edu	37	X	100292981	100292981	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:100292981G>C	ENST00000372936.3	-	5	1135	c.363C>G	c.(361-363)ctC>ctG	p.L121L	TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000545398.1_Silent_p.L121L|TRMT2B_ENST00000372931.5_Silent_p.L121L|TRMT2B_ENST00000372935.1_Silent_p.L121L|TRMT2B_ENST00000372939.1_Intron|TRMT2B_ENST00000338687.7_Intron	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	121							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TGACTCCATTGAGCATTTGGA	0.428000													70	150					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269404	30269404	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:30269404C>A	ENST00000378981.3	+	4	1115	c.794C>A	c.(793-795)cCc>cAc	p.P265H	MAGEB1_ENST00000397548.2_Missense_Mutation_p.P265H|MAGEB1_ENST00000397550.1_Missense_Mutation_p.P265H	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	265	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AACAGTGATCCCCCACGCTAT	0.507000													24	33					4.26978e-12	6.2076e-12	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196723505	196723505	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:196723505C>A	ENST00000312428.6	-	43	7860	c.7760G>T	c.(7759-7761)aGa>aTa	p.R2587I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2587	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CACTTCATATCTCTTTTTCAT	0.373000													24	103					6.36457e-07	7.92688e-07	1	1	0
NPC1L1	29881	broad.mit.edu	37	7	44576029	44576029	+	Splice_Site	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:44576029T>C	ENST00000289547.4	-	4	1737		c.e4-2		NPC1L1_ENST00000423141.1_Splice_Site|NPC1L1_ENST00000546276.1_Splice_Site|NPC1L1_ENST00000381160.3_Splice_Site	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1						cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGTCCTTTCCTGGGATAAGAA	0.607000													25	58					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17585192	17585192	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:17585192G>T	ENST00000226299.4	+	5	740	c.466G>T	c.(466-468)Gtg>Ttg	p.V156L	LAP3_ENST00000606142.1_Missense_Mutation_p.V125L	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	156					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GGAGGGAGCGGTGCTTGGTCT	0.527000													26	76					3.28513e-13	4.86972e-13	1	1	0
OR4D10	390197	broad.mit.edu	37	11	59245091	59245091	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:59245091C>A	ENST00000530162.1	+	1	246	c.189C>A	c.(187-189)ctC>ctA	p.L63L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTTTTTGCTCCATAATTTAT	0.443000													72	168					5.1178e-15	7.89604e-15	1	1	0
NIPAL4	348938	broad.mit.edu	37	5	156899856	156899856	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:156899856C>T	ENST00000311946.7	+	6	1405	c.1289C>T	c.(1288-1290)cCg>cTg	p.P430L	NIPAL4_ENST00000435489.2_Missense_Mutation_p.P411L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	430						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TCTCCCGCCCCGGAACCCACT	0.498000													12	22					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30793054	30793054	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:30793054T>A	ENST00000262525.4	-	3	2802	c.2595A>T	c.(2593-2595)ccA>ccT	p.P865P		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	865					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGAGACACCTGGGTGGCAGC	0.562000													10	37					0	0	1	0	0
NAAA	27163	broad.mit.edu	37	4	76841044	76841044	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:76841044C>A	ENST00000505594.1	-	7	875	c.684G>T	c.(682-684)gtG>gtT	p.V228V	NAAA_ENST00000399497.3_Intron|NAAA_ENST00000286733.4_Intron|NAAA_ENST00000511606.1_Intron|NAAA_ENST00000507956.1_Intron			Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	0					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						GTATGCAGGACACTGTGACAC	0.408000													11	54					1.08611e-07	1.41082e-07	1	1	0
TMEM255A	55026	broad.mit.edu	37	X	119410810	119410810	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:119410810G>A	ENST00000371369.4	-	7	831	c.605C>T	c.(604-606)aCc>aTc	p.T202I	TMEM255A_ENST00000309720.5_Missense_Mutation_p.T226I|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.T62I	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		GTTGAGGATGGTGGCAGACCA	0.507000													32	50					0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45268061	45268061	+	Silent	SNP	C	C	T	rs144015985	by1000genomes	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:45268061C>T	ENST00000020926.3	-	5	960	c.849G>A	c.(847-849)gaG>gaA	p.E283E		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	283						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CTGCAGATGGCTCCTGAAACA	0.547000													4	19					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099244	50099244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:50099244G>T	ENST00000418929.2	+	4	1664	c.1652G>T	c.(1651-1653)aGc>aTc	p.S551I		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	324	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGGGGACCCAGCTCCCTGGGA	0.711000													7	44					0.00621372	0.00648836	1	1	0
GAD2	2572	broad.mit.edu	37	10	26558096	26558096	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:26558096A>G	ENST00000376261.3	+	9	1472	c.969A>G	c.(967-969)aaA>aaG	p.K323K	GAD2_ENST00000259271.3_Silent_p.K323K	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	323					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TTGAAGCCAAACAGAAAGTAA	0.358000													15	68					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82417712	82417712	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:82417712T>C	ENST00000370728.1	+	11	2313	c.1668T>C	c.(1666-1668)gcT>gcC	p.A556A	LPHN2_ENST00000370725.1_Silent_p.A556A|LPHN2_ENST00000359929.3_Silent_p.A556A|LPHN2_ENST00000370717.2_Silent_p.A556A|LPHN2_ENST00000370727.1_Silent_p.A556A|LPHN2_ENST00000319517.6_Silent_p.A556A|LPHN2_ENST00000394879.1_Silent_p.A556A|LPHN2_ENST00000271029.4_Silent_p.A556A|LPHN2_ENST00000370730.1_Silent_p.A556A|LPHN2_ENST00000335786.5_Silent_p.A556A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Silent_p.A556A|LPHN2_ENST00000370723.1_Silent_p.A556A|LPHN2_ENST00000370721.1_Silent_p.A494A|LPHN2_ENST00000370713.1_Silent_p.A556A			O95490	LPHN2_HUMAN	latrophilin 2	556					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAGTGTTTGCTGGGGATGTAA	0.428000													12	74					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125175123	125175123	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:125175123G>T	ENST00000431078.1	+	4	849	c.485G>T	c.(484-486)aGt>aTt	p.S162I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	162	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S162N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGAATCCCAGTGGGAAGATT	0.502000													3	25					0.004672	0.00488524	1	1	0
CCDC136	64753	broad.mit.edu	37	7	128454947	128454947	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:128454947T>A	ENST00000297788.4	+	15	3386	c.3019T>A	c.(3019-3021)Tct>Act	p.S1007T	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1007						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTCGGATACTTCTGAGAGCGA	0.468000													3	14					0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293437	71293437	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:71293437G>T	ENST00000398530.1	-	1	484	c.447C>A	c.(445-447)ccC>ccA	p.P149P	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	149	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCAGCACACGGGGACAcagc	0.557000													21	140					2.27731e-05	2.66921e-05	1	1	0
C6	729	broad.mit.edu	37	5	41154099	41154099	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:41154099C>A	ENST00000263413.3	-	15	2367	c.2101_splice	c.e15-1	p.R701_splice	C6_ENST00000337836.5_Splice_Site_p.R701_splice	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	701	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCACTCCGTCCCTGCAAGAG	0.393000													93	42					6.65942e-36	1.19019e-35	1	1	0
ARSF	416	broad.mit.edu	37	X	2994711	2994711	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:2994711G>T	ENST00000381127.1	+	4	504		c.e4+1		ARSF_ENST00000359361.2_Splice_Site|ARSF_ENST00000537104.1_Splice_Site	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F							extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCCGATCAGGTGCGCAAACT	0.582000													5	17					1.23904e-05	1.4682e-05	1	1	0
ATP10B	23120	broad.mit.edu	37	5	159992831	159992831	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:159992831G>T	ENST00000327245.5	-	26	4861	c.4015C>A	c.(4015-4017)Cca>Aca	p.P1339T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1339					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTTGTCTGGGGGGAGTTTG	0.478000													43	112					1.32136e-16	2.08548e-16	1	1	0
NAV3	89795	broad.mit.edu	37	12	78516179	78516179	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:78516179G>T	ENST00000397909.2	+	16	4382	c.4209G>T	c.(4207-4209)acG>acT	p.T1403T	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Silent_p.T1403T|NAV3_ENST00000228327.6_Silent_p.T1403T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1403	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCATGAGAACGGGTAGTGTGA	0.547000										HNSCC(70;0.22)			26	57					3.6726e-16	5.74842e-16	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62041161	62041161	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:62041161C>A	ENST00000578147.1	-	10	1553	c.1477G>T	c.(1477-1479)Ggt>Tgt	p.G493C	SCN4A_ENST00000435607.1_Missense_Mutation_p.G493C			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	493					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCCTCCCCACCTTCCAGAGCT	0.617000													8	8					0.000274275	0.000301384	1	1	0
TNXB	7148	broad.mit.edu	37	6	32025991	32025991	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:32025991T>A	ENST00000375244.3	-	22	7870	c.7669A>T	c.(7669-7671)Aag>Tag	p.K2557*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.K2557*			P22105	TENX_HUMAN	tenascin XB	2617					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCCTGTCCTTGTACTGCACG	0.652000													18	56					0	0	1	0	0
C7orf66	154907	broad.mit.edu	37	7	108524073	108524073	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:108524073C>A	ENST00000379007.2	-	2	393	c.339G>T	c.(337-339)atG>atT	p.M113I		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	113						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						CTTAATTTCCCATTTCCTTTG	0.323000													22	55					3.5997e-14	5.4756e-14	1	1	0
IKZF1	10320	broad.mit.edu	37	7	50468266	50468266	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:50468266G>T	ENST00000331340.3	+	8	1656	c.1501G>T	c.(1501-1503)Gac>Tac	p.D501Y	IKZF1_ENST00000357364.4_Missense_Mutation_p.D414Y|IKZF1_ENST00000343574.5_Missense_Mutation_p.D414Y|IKZF1_ENST00000346667.4_Missense_Mutation_p.D271Y|IKZF1_ENST00000359197.5_Missense_Mutation_p.D459Y|IKZF1_ENST00000438033.1_Missense_Mutation_p.D414Y|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.D459Y|IKZF1_ENST00000349824.4_Missense_Mutation_p.D358Y	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	501					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCACAGCCAGGACCGGTACGA	0.627000			"""D,T"""	BCL6	"""ALL, DLBCL"""								6	36					3.59834e-05	4.1723e-05	1	1	0
IKZF1	10320	broad.mit.edu	37	7	50468265	50468265	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:50468265G>T	ENST00000331340.3	+	8	1655	c.1500G>T	c.(1498-1500)caG>caT	p.Q500H	IKZF1_ENST00000357364.4_Missense_Mutation_p.Q413H|IKZF1_ENST00000343574.5_Missense_Mutation_p.Q413H|IKZF1_ENST00000346667.4_Missense_Mutation_p.Q270H|IKZF1_ENST00000359197.5_Missense_Mutation_p.Q458H|IKZF1_ENST00000438033.1_Missense_Mutation_p.Q413H|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.Q458H|IKZF1_ENST00000349824.4_Missense_Mutation_p.Q357H	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	500					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ACCACAGCCAGGACCGGTACG	0.627000			"""D,T"""	BCL6	"""ALL, DLBCL"""								6	37					3.59834e-05	4.1723e-05	1	1	0
ZNF572	137209	broad.mit.edu	37	8	125988734	125988734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:125988734G>A	ENST00000319286.5	+	3	378	c.224G>A	c.(223-225)tGg>tAg	p.W75*		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCACTGACATGGGTTCAAGAT	0.383000										HNSCC(60;0.17)			22	70					0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22056937	22056937	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:22056937T>C	ENST00000256906.4	+	3	684	c.584T>C	c.(583-585)aTg>aCg	p.M195T	HRH4_ENST00000426880.2_Missense_Mutation_p.M107T	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	195						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TATTTCAACATGAATATTTAT	0.438000													35	139					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344535	56344535	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:56344535A>C	ENST00000526812.2	-	1	728	c.663T>G	c.(661-663)atT>atG	p.I221M		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCGCTGCAAAAATGAAAAGAT	0.453000													8	85					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780254	37780254	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:37780254T>C	ENST00000447769.1	+	4	548	c.259T>C	c.(259-261)Ttc>Ctc	p.F87L	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.F87L|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	87						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGGCTGCCCTTCTGCAAATT	0.488000													10	91					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112510	148112510	+	Splice_Site	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:148112510C>G	ENST00000361727.3	+	24	4314	c.3796_splice	c.e24-1	p.G1266_splice	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Splice_Site_p.G325_splice	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1266					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCCGTCAGGCGTCATTGCTG	0.557000										HNSCC(39;0.1)			6	47					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30505533	30505533	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:30505533G>T	ENST00000356798.6	+	12	1394	c.1213_splice	c.e12-1	p.G405_splice	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Splice_Site_p.G322_splice|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	405					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTTTCCTCAGGTTACACCGTG	0.602000													32	85					4.65686e-17	7.4274e-17	1	1	0
PBXIP1	57326	broad.mit.edu	37	1	154920756	154920756	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:154920756C>T	ENST00000368463.3	-	6	567	c.496G>A	c.(496-498)Gag>Aag	p.E166K	PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E11K|PBXIP1_ENST00000368460.3_Missense_Mutation_p.E166K|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E137K	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	166					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGCCGGCCTCCCGGCCCCGC	0.682000													6	11					0	0	1	0	0
PRR21	643905	broad.mit.edu	37	2	240982154	240982154	+	Silent	SNP	G	G	C	rs71420284		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:240982154G>C	ENST00000408934.1	-	1	245	c.246C>G	c.(244-246)ctC>ctG	p.L82L		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	82	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						TGTGGGTGAAGAGCCGTGGAT	0.612000													16	83					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78369392	78369392	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:78369392C>A	ENST00000278550.7	-	34	8483	c.8021G>T	c.(8020-8022)tGc>tTc	p.C2674F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGTGTTCAAGCACAGTGCCCC	0.602000													12	13					3.07112e-06	3.69708e-06	1	1	0
MYF5	4617	broad.mit.edu	37	12	81112714	81112714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:81112714G>T	ENST00000228644.3	+	3	804	c.652G>T	c.(652-654)Gag>Tag	p.E218*		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	218					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CACCTCCTCAGAGCAACCTGG	0.488000													29	66					9.80776e-20	1.62246e-19	1	1	0
MPPED2	744	broad.mit.edu	37	11	30557678	30557678	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:30557678G>A	ENST00000448418.2	-	3	533	c.173C>T	c.(172-174)aCg>aTg	p.T58M	MPPED2_ENST00000358117.5_Missense_Mutation_p.T58M	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	58					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GACAAACCGCGTGTGGCCCGC	0.483000													4	37					0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152682016	152682016	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:152682016C>G	ENST00000263985.6	-	1	159	c.119G>C	c.(118-120)aGg>aCg	p.R40T	PET112_ENST00000508611.1_Missense_Mutation_p.R40T|PET112_ENST00000512306.1_Missense_Mutation_p.R40T|PET112_ENST00000515812.1_Missense_Mutation_p.R40T	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	40						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTCTCTCCCCTAATCTGGTT	0.597000													13	51					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45475342	45475342	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:45475342A>G	ENST00000361462.2	+	5	2959	c.2776A>G	c.(2776-2778)Aaa>Gaa	p.K926E	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.K926E|FAM179B_ENST00000382233.2_Missense_Mutation_p.K926E			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	926							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTGCCTGATAAAGCTGATTT	0.423000													14	126					0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61295529	61295529	+	Missense_Mutation	SNP	C	C	A	rs17849204	by1000genomes	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:61295529C>A	ENST00000263846.4	-	5	807	c.480G>T	c.(478-480)caG>caT	p.Q160H	SYT7_ENST00000542836.1_Missense_Mutation_p.Q204H|SYT7_ENST00000542670.1_Missense_Mutation_p.Q368H|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000540677.1_Missense_Mutation_p.Q235H|SYT7_ENST00000539008.1_Missense_Mutation_p.Q443H|SYT7_ENST00000535826.1_Missense_Mutation_p.Q279H	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	160	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCGGCAGCTCCTGGGCCTTCA	0.607000													52	66					1.35964e-18	2.20104e-18	1	1	0
BNC2	54796	broad.mit.edu	37	9	16419146	16419146	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:16419146C>A	ENST00000380672.4	-	7	3198	c.3141G>T	c.(3139-3141)aaG>aaT	p.K1047N	BNC2_ENST00000545497.1_Missense_Mutation_p.K952N|BNC2_ENST00000380667.2_Missense_Mutation_p.K980N	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	1047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCAGGGTCCCCTTGTTGCTGT	0.468000													15	46					6.31663e-08	8.31946e-08	1	1	0
ZDHHC6	64429	broad.mit.edu	37	10	114203279	114203279	+	Missense_Mutation	SNP	C	C	T	rs141897265		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:114203279C>T	ENST00000369405.3	-	3	776	c.353G>A	c.(352-354)tGt>tAt	p.C118Y	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.C114Y	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	118						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GTACCTGTTACACTTTCTGCA	0.403000													10	130					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137501538	137501538	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:137501538G>C	ENST00000254900.5	-	11	1628	c.1257C>G	c.(1255-1257)atC>atG	p.I419M	BRD8_ENST00000230901.5_Missense_Mutation_p.I492M|BRD8_ENST00000402931.1_Missense_Mutation_p.I419M|BRD8_ENST00000455658.2_Missense_Mutation_p.I378M|BRD8_ENST00000411594.2_Missense_Mutation_p.I422M	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	419					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGATGGCAATGATGTCTCCAA	0.463000													5	85					0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39352280	39352280	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:39352280T>C	ENST00000289248.2	-	8	1816	c.808A>G	c.(808-810)Aaa>Gaa	p.K270E	RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.K350E|RHBDL2_ENST00000372990.1_Missense_Mutation_p.K270E|RHBDL2_ENST00000538156.1_Missense_Mutation_p.K337E			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	270					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AGCAGTGCTTTATCAAAGCAG	0.418000													10	94					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65387893	65387893	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:65387893G>A	ENST00000355703.3	+	9	2631	c.2092G>A	c.(2092-2094)Gga>Aga	p.G698R		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	698						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GACAGCTAATGGAGCCTGGTG	0.612000													14	29					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915112	176915112	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:176915112G>C	ENST00000367654.2	-	13	2236	c.2223C>G	c.(2221-2223)aaC>aaG	p.N741K	ASTN1_ENST00000367657.3_Missense_Mutation_p.N733K|ASTN1_ENST00000424564.2_Missense_Mutation_p.N733K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.N733K			O14525	ASTN1_HUMAN	astrotactin 1	741					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGAATGGTTGTTGTAACCAA	0.483000													51	164					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238051727	238051727	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:238051727C>A	ENST00000366570.4	-	4	642	c.484G>T	c.(484-486)Gga>Tga	p.G162*	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	162	P-type.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCACAGTCTCCTCGAGAGATG	0.507000													24	73					5.35356e-11	7.6364e-11	1	1	0
MAGEB6	158809	broad.mit.edu	37	X	26212607	26212607	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:26212607C>A	ENST00000379034.1	+	2	793	c.644C>A	c.(643-645)tCc>tAc	p.S215Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	215	MAGE.							p.S215Y(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAGAAAGAGTCCATTTTGAAG	0.468000													18	57					7.45023e-12	1.08107e-11	1	1	0
GHR	2690	broad.mit.edu	37	5	42718570	42718570	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:42718570G>C	ENST00000230882.4	+	10	1151	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	GHR_ENST00000357703.3_Missense_Mutation_p.E299Q|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.E134Q	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	321					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAAATTAGAGGAGGTGAACAC	0.313000													54	172					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73768561	73768561	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:73768561C>A	ENST00000334126.7	-	25	5206	c.4980G>T	c.(4978-4980)tcG>tcT	p.S1660S	C2CD3_ENST00000313663.7_Silent_p.S1660S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1660	C2 2.					centrosome		p.S1660S(4)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACTGGGTATCGATACTTTCC	0.448000													20	138					1.64113e-05	1.93557e-05	1	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378610	31378610	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:31378610C>T	ENST00000297142.3	-	2	595	c.273G>A	c.(271-273)agG>agA	p.R91R		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	91					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TGAACTTGACCCTTTCCAATC	0.493000													31	263					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126792830	126792830	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:126792830G>T	ENST00000274473.6	+	26	3510	c.3243G>T	c.(3241-3243)gtG>gtT	p.V1081V	MEGF10_ENST00000503335.2_Silent_p.V1081V	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1081	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AACCTACAGTGAGTGTTGTCC	0.398000													5	75					1.024e-07	1.33935e-07	1	1	0
TPTE	7179	broad.mit.edu	37	21	10970061	10970061	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr21:10970061G>T	ENST00000298232.7	-	6	434	c.65_splice	c.e6-1	p.P23_splice	TPTE_ENST00000342420.5_Splice_Site_p.P23_splice|TPTE_ENST00000361285.4_Splice_Site_p.P23_splice|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	23					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTGTCTGTGGACTAGTGGAT	0.373000													19	152					5.03518e-11	7.22315e-11	1	1	0
CCDC30	728621	broad.mit.edu	37	1	43002166	43002166	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:43002166A>G	ENST00000428554.2	+	9	1154	c.11A>G	c.(10-12)gAa>gGa	p.E4G	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.E4G|CCDC30_ENST00000340612.4_Missense_Mutation_p.E4G			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	4										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ATGAGCCAAGAAAAAAATGAA	0.333000													10	62					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525180	248525180	+	Missense_Mutation	SNP	C	C	T	rs142091573	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:248525180C>T	ENST00000366475.1	+	1	298	c.298C>T	c.(298-300)Ctc>Ttc	p.L100F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAATTGTCTCTCATGGACAT	0.502000													23	323					0	0	1	0	0
CTH	1491	broad.mit.edu	37	1	70904452	70904452	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:70904452G>T	ENST00000411986.2	+	10	1236	c.1038G>T	c.(1036-1038)gtG>gtT	p.V346V	CTH_ENST00000370938.3_Silent_p.V378V|CTH_ENST00000346806.2_Silent_p.V334V	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	378					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GACTTTCTGTGGGCTTAGAGG	0.428000													30	89					1.62565e-12	2.38639e-12	1	1	0
VCP	7415	broad.mit.edu	37	9	35059077	35059077	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:35059077G>A	ENST00000358901.6	-	15	3039	c.2144C>T	c.(2143-2145)aCa>aTa	p.T715I		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	715					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGATGGGTTTGTCTGCCTCTC	0.547000													13	99					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21224686	21224686	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:21224686C>T	ENST00000233242.1	-	29	13735	c.13608G>A	c.(13606-13608)acG>acA	p.T4536T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4536					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T4536T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAGTAACTCCGTGATGTATA	0.363000													7	127					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847330	94847330	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:94847330C>T	ENST00000448921.1	-	5	1367	c.795G>A	c.(793-795)ctG>ctA	p.L265L	SERPINA1_ENST00000402629.1_Silent_p.L265L|SERPINA1_ENST00000393088.4_Silent_p.L265L|SERPINA1_ENST00000355814.4_Silent_p.L265L|SERPINA1_ENST00000437397.1_Silent_p.L265L|SERPINA1_ENST00000449399.3_Silent_p.L265L|SERPINA1_ENST00000440909.1_Silent_p.L265L|SERPINA1_ENST00000393087.4_Silent_p.L265L|SERPINA1_ENST00000404814.4_Silent_p.L265L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	265					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GGTATTTCATCAGCAGCACCC	0.512000													9	73					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48536592	48536592	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:48536592C>G	ENST00000358350.4	-	49	7279	c.6675G>C	c.(6673-6675)gaG>gaC	p.E2225D	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.E2225D|FRYL_ENST00000503238.1_Missense_Mutation_p.E2225D|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2225					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTTTATGATCTCCAGATTAA	0.333000													3	35					0	0	1	0	0
SLC39A9	55334	broad.mit.edu	37	14	69925101	69925101	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:69925101G>C	ENST00000031146.4	+	6	1195	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000556605.1_Intron|SLC39A9_ENST00000336643.5_Missense_Mutation_p.E239Q|SLC39A9_ENST00000557046.1_Missense_Mutation_p.E216Q			Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	239					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AGCCCTTTCAGAGGTGAACGC	0.468000													7	177					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	132937864	132937864	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:132937864G>C	ENST00000253861.4	+	1	36	c.7G>C	c.(7-9)Gca>Cca	p.A3P	EXOC4_ENST00000393161.2_Missense_Mutation_p.A3P	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	3					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CAAGATGGCGGCAGAAGCAGC	0.577000													12	73					0	0	1	0	0
TCL1B	9623	broad.mit.edu	37	14	96152829	96152829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:96152829C>A	ENST00000340722.7	+	1	76	c.25C>A	c.(25-27)Cta>Ata	p.L9I	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	9										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TTCTGTGCGTCTAGGGGTGCC	0.602000													17	77					3.45872e-05	4.04141e-05	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113078056	113078056	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:113078056G>C	ENST00000316851.7	+	5	672	c.672G>C	c.(670-672)gtG>gtC	p.V224V	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Silent_p.V116V|NCAM1_ENST00000401611.2_Silent_p.V233V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	234	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCACCCTGGTGTGCGATGCCG	0.537000													26	85					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41377671	41377671	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr15:41377671C>T	ENST00000361937.3	-	7	1193	c.769G>A	c.(769-771)Gat>Aat	p.D257N	INO80_ENST00000401393.3_Missense_Mutation_p.D257N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	257	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGAGGTGCATCGTGAGAAAAC	0.458000													11	93					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161524799	161524799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:161524799C>A	ENST00000356592.3	+	4	943	c.483C>A	c.(481-483)caC>caA	p.H161Q	GABRG2_ENST00000414552.2_Missense_Mutation_p.H161Q|GABRG2_ENST00000393933.4_Missense_Mutation_p.H66Q|GABRG2_ENST00000361925.4_Missense_Mutation_p.H161Q	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	161					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTGATGCACACTGGATCACCA	0.428000													29	80					4.22769e-11	6.07631e-11	1	1	0
C12orf39	80763	broad.mit.edu	37	12	21680124	21680124	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:21680124C>T	ENST00000256969.2	+	3	309	c.143C>T	c.(142-144)gCa>gTa	p.A48V		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN	chromosome 12 open reading frame 39	48						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CTGAAAGGGGCACGTAAGTTC	0.458000													37	60					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32020721	32020721	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:32020721C>T	ENST00000375244.3	-	26	9042	c.8841G>A	c.(8839-8841)ccG>ccA	p.P2947P	TNXB_ENST00000375247.2_Silent_p.P2945P			P22105	TENX_HUMAN	tenascin XB	2992	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGGGGCTCCGGGGCCTCCG	0.657000													16	61					0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118315520	118315520	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:118315520G>C	ENST00000369221.2	+	9	848	c.820G>C	c.(820-822)Gac>Cac	p.D274H		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	274					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGGGACTCGAGACTTTGCGGC	0.393000													19	125					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912812	77912812	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chrX:77912812A>G	ENST00000321110.1	-	2	1401	c.1106T>C	c.(1105-1107)aTa>aCa	p.I369T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	369							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTCATCTTGTATAGAACTGGC	0.488000													19	32					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11772454	11772454	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:11772454C>T	ENST00000262442.3	+	51	10005	c.9937C>T	c.(9937-9939)Ctt>Ttt	p.L3313F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L3313F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3313	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		TAAACAGCACCTTAATGAAAA	0.473000													23	72					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187558970	187558970	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:187558970C>G	ENST00000304698.5	+	1	273	c.70C>G	c.(70-72)Cgg>Ggg	p.R24G	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	24						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCTGAAAGCGCGGCTGGTCCC	0.662000													4	18					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116616407	116616407	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:116616407G>T	ENST00000395715.3	-	4	2366	c.1789C>A	c.(1789-1791)Ccg>Acg	p.P597T	TRPS1_ENST00000519674.1_Missense_Mutation_p.P584T|TRPS1_ENST00000520276.1_Missense_Mutation_p.P588T|TRPS1_ENST00000220888.5_Missense_Mutation_p.P584T|TRPS1_ENST00000519076.1_Intron	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	584					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAAGCAAACGGATAAGTAATT	0.468000									Langer-Giedion syndrome				7	44					2.7689e-08	3.67888e-08	1	1	0
SLC6A17	388662	broad.mit.edu	37	1	110737302	110737302	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:110737302C>T	ENST00000331565.4	+	9	1886	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	SLC6A17_ENST00000465159.1_3'UTR	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	467					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGATGCTTATCAACCTGGGCC	0.592000													10	50					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8007650	8007650	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:8007650A>G	ENST00000344293.5	+	3	2383	c.2177A>G	c.(2176-2178)gAg>gGg	p.E726G		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	726	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						agagagaaagagaagagagag	0.383000													9	36					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106456569	106456569	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:106456569G>T	ENST00000407775.2	+	3	511	c.261G>T	c.(259-261)ccG>ccT	p.P87P	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	87					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGAGAAACCGGGGCAACCTG	0.443000													7	20					0.000157383	0.000176531	1	1	0
MEOX2	4223	broad.mit.edu	37	7	15652023	15652023	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:15652023C>A	ENST00000262041.5	-	3	1313	c.904G>T	c.(904-906)Gcg>Tcg	p.A302S		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	302					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CATAAGTGCGCATGCTCTGAG	0.478000													11	76					0.000978159	0.00105041	1	1	0
C2CD2L	9854	broad.mit.edu	37	11	118983228	118983228	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:118983228C>T	ENST00000336702.3	+	9	1480	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	C2CD2L_ENST00000528586.1_Missense_Mutation_p.S122F	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	374						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTGTGGGCTCCCCCTCCAGA	0.652000													10	169					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25591900	25591900	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:25591900G>T	ENST00000269141.3	-	4	879	c.456C>A	c.(454-456)ggC>ggA	p.G152G	CDH2_ENST00000399380.3_Silent_p.G121G	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	152					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTGTAGGTGGCCACTGTGCT	0.453000													10	100					0.000442599	0.000482836	1	1	0
TTN	7273	broad.mit.edu	37	2	179437771	179437771	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:179437771G>T	ENST00000589042.1	-	326	73312	c.73088C>A	c.(73087-73089)gCc>gAc	p.A24363D	TTN_ENST00000342175.6_Missense_Mutation_p.A15490D|TTN_ENST00000359218.5_Missense_Mutation_p.A15423D|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A21795D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A15298D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A22722D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22722	Fibronectin type-III 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTGGCAGGGCAATCTCAAC	0.448000													4	27					0.00909568	0.00943256	1	1	0
DAB2IP	153090	broad.mit.edu	37	9	124536647	124536647	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:124536647A>T	ENST00000408936.3	+	13	3258	c.3076A>T	c.(3076-3078)Agg>Tgg	p.R1026W	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R902W|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R998W			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1026					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCCCCCCACAGGGATAGGCT	0.637000													4	24					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45645568	45645568	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr14:45645568G>T	ENST00000267430.5	+	14	3696	c.3611G>T	c.(3610-3612)cGt>cTt	p.R1204L	FANCM_ENST00000542564.2_Missense_Mutation_p.R1178L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1204					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTTAAATCTCGTGATCAGAGA	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	61					0.00010058	0.000114001	1	1	0
ATP1A3	478	broad.mit.edu	37	19	42471895	42471895	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:42471895C>A	ENST00000545399.1	-	21	3032	c.2879G>T	c.(2878-2880)gGg>gTg	p.G960V	ATP1A3_ENST00000543770.1_Missense_Mutation_p.G958V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.G947V|ATP1A3_ENST00000602133.1_Missense_Mutation_p.G917V	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	947					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTCAAACAGCCCGAAGATCAG	0.667000													17	27					1.45105e-14	2.22966e-14	1	1	0
HELZ	9931	broad.mit.edu	37	17	65103393	65103393	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:65103393C>A	ENST00000358691.5	-	31	5299	c.5133G>T	c.(5131-5133)caG>caT	p.Q1711H	HELZ_ENST00000580168.1_Missense_Mutation_p.Q1712H	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAAAAGGGTTCTGCGGTGGCC	0.473000													35	218					3.90053e-15	6.04262e-15	1	1	0
NKIRAS2	28511	broad.mit.edu	37	17	40174504	40174504	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:40174504A>G	ENST00000307641.5	+	3	803	c.182A>G	c.(181-183)gAc>gGc	p.D61G	NKIRAS2_ENST00000393880.1_Missense_Mutation_p.D61G|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.D61G|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.D59G|NKIRAS2_ENST00000479407.1_Intron|NKIRAS2_ENST00000449471.4_Intron|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.D61G|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.D61G	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	61	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CGTTTCTATGACACCCGGGGG	0.562000													5	29					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105158243	105158243	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:105158243G>C	ENST00000369797.3	+	2	154	c.60G>C	c.(58-60)gaG>gaC	p.E20D		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	20					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACAAACCAGAGAAAGCTTTCC	0.418000													8	37					0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212193585	212193585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:212193585G>C	ENST00000366994.3	-	3	354	c.250C>G	c.(250-252)Ctt>Gtt	p.L84V	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.L84V|INTS7_ENST00000366992.3_Missense_Mutation_p.L84V|INTS7_ENST00000440600.2_Intron	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	84					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GTAACTTTAAGAACACATAGC	0.294000													5	26					0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50594820	50594820	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:50594820C>A	ENST00000374139.2	-	4	329	c.319G>T	c.(319-321)Gca>Tca	p.A107S	DRGX_ENST00000434016.1_Missense_Mutation_p.A112S			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	112					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GTCACCTCTGCCATGGGCTCC	0.607000													32	93					1.45844e-13	2.192e-13	1	1	0
CER1	9350	broad.mit.edu	37	9	14722195	14722195	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:14722195C>A	ENST00000380911.3	-	1	520	c.476G>T	c.(475-477)tGg>tTg	p.W159L		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	159					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GCAGGTCTCCCAATGTACTTC	0.527000													15	46					0.000422831	0.000463276	1	1	0
ADRA2A	150	broad.mit.edu	37	10	112838897	112838897	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr10:112838897G>A	ENST00000280155.2	+	1	2108	c.1143G>A	c.(1141-1143)caG>caA	p.Q381Q		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	366					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	GCGGGCGGCAGAACCGCGAGA	0.731000													27	138					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13386728	13386728	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:13386728G>T	ENST00000360228.5	-	24	3924	c.3925C>A	c.(3925-3927)Cgt>Agt	p.R1309S	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1310S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1310					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAGAGGTCACGGAAGTAGGCA	0.572000													12	21					1.05317e-09	1.44239e-09	1	1	0
MYCBPAP	84073	broad.mit.edu	37	17	48594812	48594812	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:48594812C>A	ENST00000323776.5	+	3	654	c.493_splice	c.e3+1	p.S164_splice	MYCBPAP_ENST00000436259.2_Splice_Site_p.S127_splice	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	127					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGGACTACTCCGGTACACCCA	0.517000													43	111					3.4345e-17	5.5127e-17	1	1	0
CORO6	84940	broad.mit.edu	37	17	27944550	27944550	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr17:27944550T>A	ENST00000345068.5	-	6	934	c.721A>T	c.(721-723)Atg>Ttg	p.M241L	CORO6_ENST00000577909.1_Intron|CORO6_ENST00000584969.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.M241L|CORO6_ENST00000580212.1_Intron|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000456796.3_Intron|CORO6_ENST00000445145.2_Intron			Q6QEF8	CORO6_HUMAN	coronin 6	241					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CGCTGGCTCATGCGGGTGAAG	0.697000													10	25					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172942530	172942530	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:172942530T>A	ENST00000315796.4	+	7	1097	c.710T>A	c.(709-711)aTa>aAa	p.I237K	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	237					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TAAAGCCACATAACTCATCAG	0.303000													8	66					0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106118662	106118662	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:106118662G>A	ENST00000375936.3	+	1	71	c.25G>A	c.(25-27)Gat>Aat	p.D9N	DAOA_ENST00000329625.5_5'UTR|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	9						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					gatgggtgctgattctctcca	0.517000													16	52					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232577060	232577060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:232577060C>A	ENST00000366630.1	-	13	3977	c.3619G>T	c.(3619-3621)Gat>Tat	p.D1207Y	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D1207Y|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.D281Y			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1207					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTGGGGGAATCTTTGCAACTT	0.468000													106	413					1.65916e-42	2.99361e-42	1	1	0
CPO	130749	broad.mit.edu	37	2	207827201	207827201	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:207827201G>T	ENST00000272852.3	+	7	686	c.640G>T	c.(640-642)Gag>Tag	p.E214*		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	214					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GTCTGAACCAGAGACTAAAGC	0.453000													38	111					9.73076e-26	1.67573e-25	1	1	0
TRIM55	84675	broad.mit.edu	37	8	67062624	67062624	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:67062624G>A	ENST00000315962.4	+	7	1281	c.908G>A	c.(907-909)gGc>gAc	p.G303D	TRIM55_ENST00000353317.5_Missense_Mutation_p.G303D|TRIM55_ENST00000276573.7_Missense_Mutation_p.G303D|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	303	COS.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ATAGAACATGGCTATGAGAAC	0.368000													7	102					0	0	1	0	0
BIRC7	79444	broad.mit.edu	37	20	61867617	61867617	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:61867617G>T	ENST00000217169.3	+	1	383	c.169G>T	c.(169-171)Ggc>Tgc	p.G57C	BIRC7_ENST00000342412.6_Missense_Mutation_p.G57C	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	57					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GCAGATCCTGGGCCAGCTGCG	0.701000													5	18					0.00116845	0.00124766	1	1	0
ZNF334	55713	broad.mit.edu	37	20	45129982	45129982	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr20:45129982G>A	ENST00000457685.2	-	6	3205	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	ZNF334_ENST00000347606.4_Missense_Mutation_p.R666C|ZNF334_ENST00000593880.1_Missense_Mutation_p.R689C			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	666					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GATTTGTGGCGAAATGTTTTC	0.358000													21	99					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21783467	21783467	+	Splice_Site	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:21783467T>A	ENST00000382254.1	-	11	2479	c.1393_splice	c.e11+1	p.S465_splice	CDH12_ENST00000504376.2_Splice_Site_p.S465_splice|CDH12_ENST00000522262.1_Splice_Site_p.S425_splice|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	465	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCATACTTACTAACTTTACTC	0.368000										HNSCC(59;0.17)			14	107					0	0	1	0	0
FAM19A5	25817	broad.mit.edu	37	22	49042449	49042449	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr22:49042449C>A	ENST00000358295.5	+	2	307	c.132C>A	c.(130-132)gaC>gaA	p.D44E	FAM19A5_ENST00000402357.1_Missense_Mutation_p.D51E|FAM19A5_ENST00000473898.1_Intron	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	51						extracellular region|integral to membrane		p.D44D(1)|p.D51D(1)		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)		TGACCTTGGACCGGGACAGCA	0.677000													6	33					0.00116845	0.00124766	1	1	0
DOCK9	23348	broad.mit.edu	37	13	99534187	99534187	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:99534187G>A	ENST00000376460.1	-	24	2714	c.2634C>T	c.(2632-2634)ctC>ctT	p.L878L	DOCK9_ENST00000442173.1_Silent_p.L878L|DOCK9_ENST00000339416.2_Silent_p.L879L|DOCK9_ENST00000448493.2_Silent_p.L890L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	879	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGCTCTGGTGAGGACTCGGA	0.532000													4	7					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732605	152732605	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:152732605C>A	ENST00000368773.1	+	2	599	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	KPRP_ENST00000606109.1_Missense_Mutation_p.Q181K	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	181	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTCTCCACCCAGTGCCAGTA	0.557000													46	139					3.05275e-18	4.93136e-18	1	1	0
EPG5	57724	broad.mit.edu	37	18	43531136	43531136	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:43531136T>G	ENST00000282041.5	-	4	1355	c.1321A>C	c.(1321-1323)Atg>Ctg	p.M441L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	441					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGGTGAACATGAATAAGACA	0.383000													4	28					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66205196	66205196	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:66205196G>T	ENST00000503581.1	-	4	645	c.108C>A	c.(106-108)ccC>ccA	p.P36P	EYS_ENST00000393380.2_Silent_p.P36P|EYS_ENST00000370616.2_Silent_p.P36P|EYS_ENST00000370618.3_Silent_p.P36P|EYS_ENST00000370621.3_Silent_p.P36P|EYS_ENST00000342421.5_Silent_p.P36P	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	36					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATATGATGAGGGTTGTGGAT	0.388000													31	131					4.02929e-09	5.47867e-09	1	1	0
ZFYVE16	9765	broad.mit.edu	37	5	79743953	79743953	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr5:79743953C>T	ENST00000338008.5	+	7	3013	c.2833C>T	c.(2833-2835)Cca>Tca	p.P945S	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P945S|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P945S	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	945					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTCTCAGGTTCCATCAGTGGA	0.383000													9	51					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74680239	74680239	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr18:74680239G>T	ENST00000253159.8	+	31	5680	c.5482G>T	c.(5482-5484)Gag>Tag	p.E1828*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.E1830*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1828					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCTCCACCTGGAGGAGGTGGT	0.587000													17	78					1.15088e-07	1.48729e-07	1	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43626729	43626729	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr9:43626729T>A	ENST00000332857.6	-	4	1986	c.1958A>T	c.(1957-1959)cAg>cTg	p.Q653L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CTTCACCTTCTGTGCCTCCTT	0.557000													29	77					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139601675	139601675	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:139601675C>G	ENST00000303045.6	-	65	5148	c.4702G>C	c.(4702-4704)Ggg>Cgg	p.G1568R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1548R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1568	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGTTCCCCGGGTTGACCT	0.577000										HNSCC(7;0.00092)			8	12					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120629471	120629471	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:120629471G>A	ENST00000427067.2	-	7	758	c.578C>T	c.(577-579)aCa>aTa	p.T193I	ENPP2_ENST00000259486.6_Missense_Mutation_p.T197I|ENPP2_ENST00000522826.1_Missense_Mutation_p.T197I|ENPP2_ENST00000075322.6_Missense_Mutation_p.T197I			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	197					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGGAGAGTGTGTGCCACAAGA	0.378000													16	66					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120996267	120996267	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr11:120996267G>A	ENST00000392793.1	+	8	1731	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	TECTA_ENST00000264037.2_Missense_Mutation_p.G487E			O75443	TECTA_HUMAN	tectorin alpha	487	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGGATCTGGGAGAGAGCTGG	0.577000													7	179					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502755	94502755	+	Silent	SNP	C	C	A	rs147884766	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:94502755C>A	ENST00000370225.3	-	25	3845	c.3759G>T	c.(3757-3759)acG>acT	p.T1253T		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1253			T -> M (in FFM; could be a rare polymorphism).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGTCAGCCAGCGTCTCCTCCA	0.483000													22	104					6.44725e-10	8.89438e-10	1	1	0
RHBDD1	84236	broad.mit.edu	37	2	227729482	227729482	+	Missense_Mutation	SNP	A	A	T	rs147490611		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:227729482A>T	ENST00000392062.2	+	4	597	c.73A>T	c.(73-75)Aac>Tac	p.N25Y	RHBDD1_ENST00000341329.3_Missense_Mutation_p.N25Y	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	25						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TGTTGGGATCAACAATATTCC	0.458000													36	152					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210558713	210558713	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:210558713G>A	ENST00000360351.4	+	7	2325	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D603N|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	607					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGAGTCTATTGATACCATGTC	0.438000													18	67					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90874520	90874520	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:90874520A>C	ENST00000394980.1	+	9	3957	c.3638A>C	c.(3637-3639)aAg>aCg	p.K1213T	MMRN1_ENST00000394981.1_Missense_Mutation_p.K516T|MMRN1_ENST00000264790.2_Missense_Mutation_p.K1213T|MMRN1_ENST00000508372.1_Missense_Mutation_p.K955T			Q13201	MMRN1_HUMAN	multimerin 1	1213	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATTCCAGCCAAGTTTCCCCCT	0.363000													22	64					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72976888	72976888	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:72976888A>C	ENST00000553530.1	+	14	1199	c.992A>C	c.(991-993)aAa>aCa	p.K331T	RGS6_ENST00000434263.2_Missense_Mutation_p.K262T|RGS6_ENST00000407322.4_Missense_Mutation_p.K331T|RGS6_ENST00000556437.1_Missense_Mutation_p.K331T|RGS6_ENST00000554782.1_Missense_Mutation_p.K192T|RGS6_ENST00000404301.2_Missense_Mutation_p.K331T|RGS6_ENST00000406236.4_Missense_Mutation_p.K331T|RGS6_ENST00000553525.1_Missense_Mutation_p.K331T|RGS6_ENST00000355512.6_Missense_Mutation_p.K331T|RGS6_ENST00000343854.6_Missense_Mutation_p.K294T|RGS6_ENST00000555571.1_Missense_Mutation_p.K331T|RGS6_ENST00000402788.2_Missense_Mutation_p.K331T	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	331					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGCGAGTAAAAAGATGGGGC	0.468000													18	162					0	0	1	0	0
BPHL	670	broad.mit.edu	37	6	3127533	3127533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:3127533C>A	ENST00000380368.2	+	4	862	c.218C>A	c.(217-219)aCg>aAg	p.T73K	BPHL_ENST00000380379.5_Missense_Mutation_p.T90K|BPHL_ENST00000380375.3_Missense_Mutation_p.T73K|BPHL_ENST00000434640.1_Missense_Mutation_p.T73K			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	90					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AAGCTCTTCACGGTGGTCGCC	0.493000													8	82					0.000157383	0.000176761	1	1	0
BMS1	9790	broad.mit.edu	37	10	43326451	43326451	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:43326451G>C	ENST00000374518.4	+	23	3819	c.3756G>C	c.(3754-3756)aaG>aaC	p.K1252N		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1252					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCGGCAGAAGGACCTCAGGA	0.527000													4	16					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152757200	152757200	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:152757200C>A	ENST00000367255.5	-	33	4787	c.4186G>T	c.(4186-4188)Gct>Tct	p.A1396S	SYNE1_ENST00000423061.1_Missense_Mutation_p.A1403S|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1396S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1403S|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1396S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1396S|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1386S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1462S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1396					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGTTCTCAGCCTGGACTGCA	0.388000										HNSCC(10;0.0054)			8	67					0.00307968	0.00326752	1	1	0
CARD11	84433	broad.mit.edu	37	7	2984046	2984046	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:2984046C>T	ENST00000396946.4	-	5	887	c.484G>A	c.(484-486)Gag>Aag	p.E162K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	162					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGCTTCTTCTCATCCTCCAGC	0.577000			Mis		DLBCL								34	78					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65119459	65119459	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:65119459C>T	ENST00000371073.2	+	11	1559	c.1559C>T	c.(1558-1560)cCa>cTa	p.P520L	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.P469L			Q5VU97	CAHD1_HUMAN	cache domain containing 1	520	Cache 1.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTTATGCACCCATCTCTTACC	0.338000													13	211					0	0	1	0	0
TLDC2	140711	broad.mit.edu	37	20	35515916	35515916	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:35515916T>C	ENST00000217320.3	+	5	541	c.497T>C	c.(496-498)aTg>aCg	p.M166T	TLDC2_ENST00000602922.1_Missense_Mutation_p.M166T	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		GATTCACTGATGATGGGCAGT	0.542000											OREG0025911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	111					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238725845	238725845	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:238725845C>T	ENST00000316997.4	+	3	418	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	RBM44_ENST00000409864.1_Nonsense_Mutation_p.Q96*|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	95							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TACTCAGTTTCAGTCAAGTGA	0.318000													16	47					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971108	21971108	+	Missense_Mutation	SNP	C	C	T	rs11552822		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:21971108C>T	ENST00000579755.1	-	2	585	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CDKN2A_ENST00000530628.2_Missense_Mutation_p.R98Q|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D84N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R139Q|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33N			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			H -> P (in CMM2).|H -> Q (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D84Y(11)|p.D84N(7)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.R139Q(2)|p.D84fs*1(1)|p.D84_F90del(1)|p.R139L(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGCAGCGTCGTGCACGGGT	0.741000	D84Y(DU145_PROSTATE)|D84Y(LK2_LUNG)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	16					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050182	42050182	+	Missense_Mutation	SNP	G	G	T	rs142189176		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:42050182G>T	ENST00000372584.1	-	3	1301	c.287C>A	c.(286-288)cCg>cAg	p.P96Q	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P96Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P96Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P96Q	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	96					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGGTGCTGCGGAAGCTGTGA	0.587000													63	183					1.35869e-18	2.20132e-18	1	1	0
SPDYE3	441272	broad.mit.edu	37	7	99912179	99912179	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:99912179C>A	ENST00000332397.6	+	6	1191	c.1007C>A	c.(1006-1008)cCg>cAg	p.P336Q	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	336										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CCCAGCCCCCCGCGTAGGTCC	0.577000													38	76					1.03484e-13	1.55746e-13	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11364993	11364993	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:11364993C>T	ENST00000304623.8	-	8	1376	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	CTNND2_ENST00000503622.1_Missense_Mutation_p.R59Q|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R305Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.R396Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	396					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTATGAGGCTCGGGAACCAGC	0.488000													7	76					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97022202	97022202	+	Silent	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:97022202A>T	ENST00000216277.8	+	18	1903	c.1683A>T	c.(1681-1683)ccA>ccT	p.P561P	PAPOLA_ENST00000392990.2_Silent_p.P561P	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	561	Ser/Thr-rich.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GTCCTGCTCCAGCTGTAACAG	0.323000													8	97					0	0	1	0	0
MIR31HG	554202	broad.mit.edu	37	9	21455696	21455696	+	RNA	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:21455696C>T	ENST00000304425.3	-	0	689					NR_027054.1																						CAGCCAGTTGCAGAAGGCCCA	0.502000													3	18					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52054022	52054022	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:52054022C>A	ENST00000340057.1	+	3	445	c.400C>A	c.(400-402)Cgg>Agg	p.R134R		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	134					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CAACTCCTTCCGGCTGGAGAA	0.602000													11	65					6.40141e-05	7.34395e-05	1	1	0
PRKAG1	5571	broad.mit.edu	37	12	49398789	49398789	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:49398789T>A	ENST00000548065.1	-	7	824	c.368A>T	c.(367-369)cAg>cTg	p.Q123L	PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q132L|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q39L|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q91L|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q72L|RP11-386G11.5_ENST00000552284.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	123					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						AAAGGAGTCCTGGAGATACAC	0.463000													44	73					0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33469093	33469093	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:33469093C>A	ENST00000442241.4	-	2	106	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	NLE1_ENST00000360831.5_Missense_Mutation_p.D23Y|NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	23						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CCGCCCTCATCCTGGAACTGC	0.687000													7	20					0.00448238	0.00472894	1	1	0
ACE	1636	broad.mit.edu	37	17	61557855	61557855	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:61557855C>A	ENST00000290866.4	+	5	837	c.813C>A	c.(811-813)atC>atA	p.I271I	ACE_ENST00000538928.1_Silent_p.I271I|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.I271I	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	271	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACAGATACATCAACCTCAGGG	0.612000													22	96					0.000375601	0.000413161	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92730776	92730776	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:92730776G>C	ENST00000379958.2	-	3	4904	c.4635C>G	c.(4633-4635)atC>atG	p.I1545M		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1545						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTTCATTGATTCCATATT	0.388000													19	73					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20370884	20370884	+	Missense_Mutation	SNP	C	C	G	rs148051428		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:20370884C>G	ENST00000302451.4	-	12	1760	c.1512G>C	c.(1510-1512)ttG>ttC	p.L504F		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	504					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCTCAACAGACAACAGCTATG	0.443000													13	84					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31359339	31359339	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr15:31359339C>A	ENST00000542188.1	-	5	909	c.596G>T	c.(595-597)aGa>aTa	p.R199I	TRPM1_ENST00000256552.6_Missense_Mutation_p.R182I|TRPM1_ENST00000397795.2_Missense_Mutation_p.R160I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	160					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AACCCGGCCTCTGGACTTGGA	0.488000													14	89					2.62699e-14	4.00201e-14	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99753654	99753654	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:99753654C>A	ENST00000370185.3	+	2	853	c.356C>A	c.(355-357)gCa>gAa	p.A119E	LPPR4_ENST00000457765.1_Missense_Mutation_p.A119E	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		119							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ACCCAGGAGGCAATTCCATTC	0.438000													32	97					8.16721e-17	1.29156e-16	1	1	0
SHOX2	6474	broad.mit.edu	37	3	157823778	157823778	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:157823778A>G	ENST00000389589.4	-	1	171	c.36T>C	c.(34-36)ttT>ttC	p.F12F	SHOX2_ENST00000483851.2_Silent_p.F12F|SHOX2_ENST00000554685.1_5'UTR|RSRC1_ENST00000480820.1_5'UTR|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000425436.3_Silent_p.F12F	NM_003030.4	NP_003021.3	O60902	SHOX2_HUMAN	short stature homeobox 2	12					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTTTCTGGTCAAAAGACTTGG	0.627000													14	54					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188604	32188604	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:32188604T>C	ENST00000375023.3	-	5	989	c.851A>G	c.(850-852)cAg>cGg	p.Q284R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	284	EGF-like 7; calcium-binding (Potential).		Q -> H (in dbSNP:rs520803).		cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATTCTGACACTGGTGGCTGAC	0.557000													14	117					0	0	1	0	0
LOC349160	349160	broad.mit.edu	37	7	136848872	136848872	+	RNA	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:136848872G>T	ENST00000439694.1	-	0	164				AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000599888.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000597642.1_RNA																							GTCTACCTGAGGCTGTTGGTC	0.498000													6	25					0.0215528	0.0220842	1	1	0
FYB	2533	broad.mit.edu	37	5	39202342	39202342	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:39202342C>T	ENST00000351578.6	-	2	911	c.721G>A	c.(721-723)Gca>Aca	p.A241T	FYB_ENST00000540520.1_Missense_Mutation_p.A251T|FYB_ENST00000505428.1_Missense_Mutation_p.A241T|FYB_ENST00000515010.1_Missense_Mutation_p.A241T|FYB_ENST00000512982.1_Missense_Mutation_p.A241T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	241					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCTTCCCTTGCTGGTTTTAAA	0.522000													238	84					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974241	35974241	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:35974241G>T	ENST00000297866.5	+	8	1404	c.1338G>T	c.(1336-1338)acG>acT	p.T446T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	446										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTCCTGTGACGTACCACTTTA	0.353000													14	33					4.3838e-07	5.52034e-07	1	1	0
WFIKKN2	124857	broad.mit.edu	37	17	48916967	48916967	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:48916967C>A	ENST00000311378.4	+	2	846	c.318C>A	c.(316-318)ccC>ccA	p.P106P	WFIKKN2_ENST00000426127.1_Silent_p.P13P	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	106						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGGGCATGCCCAAGGAGGCCA	0.587000													9	25					0.000274275	0.000302147	1	1	0
SRRM3	222183	broad.mit.edu	37	7	75894095	75894095	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:75894095C>T	ENST00000388802.4	+	9	896	c.687C>T	c.(685-687)tcC>tcT	p.S229S	SRRM3_ENST00000326382.8_Silent_p.S229S					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CTCGAAGCTCCAAGTGCAAAA	0.572000													12	37					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	402006	402006	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:402006T>A	ENST00000256509.2	+	12	1847	c.1205T>A	c.(1204-1206)aTc>aAc	p.I402N	CHL1_ENST00000397491.2_Missense_Mutation_p.I386N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	386	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.I402N(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCCAGGGAAATCAGTTTTACC	0.388000													16	81					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777145	123777145	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:123777145G>T	ENST00000321355.2	+	1	37	c.7G>T	c.(7-9)Gta>Tta	p.V3L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AAGAATGGGTGTAAAAAACCA	0.378000													27	80					2.79863e-10	3.89828e-10	1	1	0
TBC1D9	23158	broad.mit.edu	37	4	141555266	141555266	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:141555266A>C	ENST00000442267.2	-	16	2656	c.2582T>G	c.(2581-2583)cTg>cGg	p.L861R		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	861						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATACTGTTCCAGGTAGGGCAG	0.552000													12	46					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155851068	155851068	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:155851068G>C	ENST00000368324.4	+	4	1318	c.1065G>C	c.(1063-1065)ttG>ttC	p.L355F	SYT11_ENST00000539162.1_Missense_Mutation_p.L48F	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	355	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AGTGCACTTTGAACCCCATCT	0.483000													138	421					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640545	99640545	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:99640545G>A	ENST00000547776.2	-	13	1853	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	ANKS1B_ENST00000547010.1_Silent_p.S198S|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Silent_p.S618S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	618						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)		GATTTTCAGGGGACTCACAGG	0.468000													17	144					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31614183	31614183	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:31614183T>A	ENST00000319386.3	+	7	1418	c.425T>A	c.(424-426)aTa>aAa	p.I142K	CCDC129_ENST00000451887.2_Missense_Mutation_p.I168K|CCDC129_ENST00000409210.1_Missense_Mutation_p.I50K|CCDC129_ENST00000407970.3_Missense_Mutation_p.I142K|CCDC129_ENST00000482748.1_3'UTR			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	142										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTTTGGGAGATAGATCCAGTG	0.448000													27	182					0	0	1	0	0
HARS2	23438	broad.mit.edu	37	5	140077256	140077256	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:140077256G>T	ENST00000230771.3	+	11	1523	c.1300G>T	c.(1300-1302)Gat>Tat	p.D434Y	HARS2_ENST00000435019.2_Missense_Mutation_p.D394Y|HARS2_ENST00000448069.2_Missense_Mutation_p.D262Y|HARS2_ENST00000508522.1_Missense_Mutation_p.D409Y|HARS2_ENST00000432671.2_Missense_Mutation_p.D320Y|HARS2_ENST00000437649.2_Missense_Mutation_p.D360Y	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	434					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity	p.D434N(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCTTTGGGATTCTGGAAT	0.473000													44	86					1.62263e-30	2.86256e-30	1	1	0
MYOF	26509	broad.mit.edu	37	10	95168668	95168668	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:95168668C>T	ENST00000371501.4	-	7	727	c.605G>A	c.(604-606)cGc>cAc	p.R202H	MYOF_ENST00000358334.5_Missense_Mutation_p.R202H|MYOF_ENST00000371489.1_Missense_Mutation_p.R202H|MYOF_ENST00000371502.4_Missense_Mutation_p.R202H|MYOF_ENST00000359263.4_Missense_Mutation_p.R202H			Q9NZM1	MYOF_HUMAN	myoferlin	202	C2 2.|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CACTCGGACGCGGATCTGCAG	0.507000													10	79					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977627	107977627	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:107977627C>A	ENST00000372129.2	-	1	2024	c.1948G>T	c.(1948-1950)Ggg>Tgg	p.G650W		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	650						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AATCTTCCCCCAGACTTCCCT	0.498000													57	131					4.54978e-40	8.20057e-40	1	1	0
EFNA1	1942	broad.mit.edu	37	1	155106462	155106462	+	Silent	SNP	C	C	A	rs11545254		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:155106462C>A	ENST00000368407.3	+	5	1055	c.537C>A	c.(535-537)atC>atA	p.I179I	EFNA1_ENST00000368406.2_Silent_p.I157I|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	179					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TACATAGCATCGGTCACAGTG	0.582000													7	18					0.0381472	0.0388219	1	1	0
RIF1	55183	broad.mit.edu	37	2	152320091	152320091	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:152320091G>C	ENST00000243326.4	+	29	4540	c.4057G>C	c.(4057-4059)Gac>Cac	p.D1353H	RIF1_ENST00000428287.2_Missense_Mutation_p.D1353H|RIF1_ENST00000453091.2_Missense_Mutation_p.D1353H|RIF1_ENST00000430328.2_Missense_Mutation_p.D1353H|RIF1_ENST00000444746.2_Missense_Mutation_p.D1353H			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1353					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATGGAGCATGACAATACAAA	0.343000													21	66					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681097	106681097	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:106681097T>C	ENST00000526355.1	-	5	1782	c.1314A>G	c.(1312-1314)ctA>ctG	p.L438L	GUCY1A2_ENST00000347596.2_Silent_p.L459L|GUCY1A2_ENST00000282249.2_Silent_p.L438L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	438					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.L438L(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CTGAGAGATGTAGCCCTCGGC	0.448000													21	88					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39597091	39597091	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:39597091A>G	ENST00000246646.3	-	1	82	c.83T>C	c.(82-84)aTc>aCc	p.I28T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	28	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CCCAATGTCGATGGGAGAGAC	0.602000													13	65					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141751666	141751666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:141751666C>A	ENST00000389484.3	-	16	3513	c.2542G>T	c.(2542-2544)Gga>Tga	p.G848*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	848	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGAAACTCTCCAGCTTTACAT	0.418000										TSP Lung(27;0.18)			5	117					0.014758	0.0151843	1	1	0
DSC2	1824	broad.mit.edu	37	18	28648052	28648052	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:28648052C>G	ENST00000280904.6	-	16	3078	c.2635G>C	c.(2635-2637)Gat>Cat	p.D879H	DSC2_ENST00000251081.6_3'UTR	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	879					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCAAGCCCATCTTCTTCTTGT	0.428000													9	65					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424280	125424280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:125424280G>T	ENST00000373686.1	+	1	436	c.436G>T	c.(436-438)Gag>Tag	p.E146*				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CTCTTACAGTGAGTGTCTGAC	0.433000													38	232					3.93418e-24	6.70334e-24	1	1	0
CDCA7	83879	broad.mit.edu	37	2	174223566	174223566	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:174223566G>T	ENST00000306721.3	+	2	250		c.e2+1		CDCA7_ENST00000347703.3_Splice_Site|CDCA7_ENST00000392567.2_Splice_Site|CDCA7_ENST00000410101.3_Splice_Site|CDCA7_ENST00000410019.3_Intron	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7						regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TGCAAACACGGTAAGTGCTGC	0.403000													19	67					2.94398e-08	3.89752e-08	1	1	0
ADAM30	11085	broad.mit.edu	37	1	120437773	120437773	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:120437773C>T	ENST00000369400.1	-	1	1345	c.1187G>A	c.(1186-1188)gGt>gAt	p.G396D		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	396					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAGCACATAACCTAGTCCTGG	0.418000													19	213					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12952352	12952352	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:12952352C>T	ENST00000276297.4	-	12	3851	c.3442G>A	c.(3442-3444)Gac>Aac	p.D1148N	DLC1_ENST00000358919.2_Missense_Mutation_p.D711N|DLC1_ENST00000512044.2_Missense_Mutation_p.D745N|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.D637N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1148	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTCAGCATGTCTGCCACGTCA	0.473000													5	34					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86521071	86521071	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:86521071A>T	ENST00000450689.2	-	21	3184	c.2999T>A	c.(2998-3000)cTa>cAa	p.L1000Q	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.L833Q|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.L929Q|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.L760Q	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	1000						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TTTTCCTAGTAGTGACTGTTT	0.378000													10	104					0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106142289	106142289	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr13:106142289G>T	ENST00000329625.5	+	4	386	c.108G>T	c.(106-108)atG>atT	p.M36I	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000375936.3_Missense_Mutation_p.M107I			P59103	DAOA_HUMAN	D-amino acid oxidase activator	107						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					aagtcttcatggcaagaaact	0.493000													11	34					1.58986e-06	1.92742e-06	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198966032	198966032	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:198966032C>A	ENST00000428675.1	+	4	3341	c.2943C>A	c.(2941-2943)ctC>ctA	p.L981L	PLCL1_ENST00000437704.2_Silent_p.L883L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	981					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCCGGTTTCTCATAGAAATGG	0.358000													19	108					2.37509e-13	3.54605e-13	1	1	0
MAP3K19	80122	broad.mit.edu	37	2	135738894	135738894	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:135738894G>A	ENST00000375845.3	-	9	3447	c.3417C>T	c.(3415-3417)ttC>ttT	p.F1139F	MAP3K19_ENST00000392918.3_Silent_p.F273F|MAP3K19_ENST00000392917.3_Silent_p.F271F|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000358371.4_Silent_p.F1026F|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Silent_p.F321F	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CAAACTCCATGAAAATGCTCA	0.408000													13	154					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104317049	104317049	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:104317049A>T	ENST00000389120.3	+	15	2183	c.2093A>T	c.(2092-2094)gAg>gTg	p.E698V		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	698					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ATGGCTGATGAGGATGCCTTG	0.423000													6	37					0	0	1	0	0
ADSS	159	broad.mit.edu	37	1	244574692	244574692	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:244574692G>A	ENST00000366535.3	-	12	1531	c.1215C>T	c.(1213-1215)ctC>ctT	p.L405L		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	405					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TCCATCCTGGGAGAGTCTTAT	0.343000													18	167					0	0	1	0	0
CHMP1A	5119	broad.mit.edu	37	16	89712461	89712461	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:89712461C>A	ENST00000253475.5	-	6	716	c.584G>T	c.(583-585)cGg>cTg	p.R195L	CHMP1A_ENST00000535997.2_3'UTR|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000397901.3_3'UTR	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	0					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CGGTGCACACCGGCGGGGCAC	0.692000													7	26					0.00448238	0.00472894	1	1	0
PKD1	5310	broad.mit.edu	37	16	2160655	2160655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:2160655C>A	ENST00000262304.4	-	15	4721	c.4513G>T	c.(4513-4515)Ggt>Tgt	p.G1505C	PKD1_ENST00000423118.1_Missense_Mutation_p.G1505C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1505	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCCACCCACCGTCCCCCAGA	0.662000													28	43					4.31634e-10	5.96787e-10	1	1	0
MDC1	9656	broad.mit.edu	37	6	30673394	30673394	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:30673394C>A	ENST00000376406.3	-	10	4213	c.3566G>T	c.(3565-3567)gGa>gTa	p.G1189V	MDC1_ENST00000376405.2_Missense_Mutation_p.G925V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1189	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ACTTTTTCTTCCCCTAGTAAC	0.572000								Other conserved DNA damage response genes					25	303					5.35356e-11	7.62755e-11	1	1	0
ALK	238	broad.mit.edu	37	2	29449807	29449807	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:29449807C>A	ENST00000389048.3	-	18	3954	c.3048G>T	c.(3046-3048)gaG>gaT	p.E1016D	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1016					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGACGCCATCCTCAGCCAGCA	0.557000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				50	108					3.50607e-19	5.73859e-19	1	1	0
RGS1	5996	broad.mit.edu	37	1	192544947	192544947	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:192544947C>G	ENST00000367459.3	+	1	91	c.25C>G	c.(25-27)Cca>Gca	p.P9A	RGS1_ENST00000469578.2_Missense_Mutation_p.P9A	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	9					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				CATCTCCACTCCAAAGTTAGA	0.443000													11	84					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27497332	27497332	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:27497332T>A	ENST00000396271.3	-	10	1373	c.1247A>T	c.(1246-1248)cAg>cTg	p.Q416L	ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.Q381L|ACBD5_ENST00000375888.1_Missense_Mutation_p.Q425L|ACBD5_ENST00000375897.3_Missense_Mutation_p.Q239L|ACBD5_ENST00000375901.1_Missense_Mutation_p.Q307L	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	425					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ACTTCCCACCTGCCGGCCCTT	0.507000													29	56					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747560	121747560	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:121747560G>T	ENST00000452319.1	+	14	4130	c.4070G>T	c.(4069-4071)gGc>gTc	p.G1357V	GLI2_ENST00000361492.4_Missense_Mutation_p.G1357V|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1357					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1357V(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCCCAAACAGGCCCGATGGGG	0.692000													10	10					0.000978159	0.00105275	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79300930	79300930	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:79300930A>T	ENST00000264895.6	+	27	3783	c.3343A>T	c.(3343-3345)Att>Ttt	p.I1115F	FRAS1_ENST00000325942.6_Missense_Mutation_p.I1115F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1114					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GATCCTCCCAATTGGTTCAAT	0.438000													11	45					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62131673	62131673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:62131673G>T	ENST00000433197.2	-	15	1985	c.1890C>A	c.(1888-1890)tgC>tgA	p.C630*		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	630	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTCTCCGTGCAGAAGTAGC	0.493000													4	16					0.184627	0.18587	1	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125876333	125876333	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:125876333A>G	ENST00000393434.2	-	4	730	c.381T>C	c.(379-381)gaT>gaC	p.D127D	ALDH1L1_ENST00000393431.2_Silent_p.D127D|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000273450.3_Silent_p.D137D|ALDH1L1_ENST00000472186.1_Silent_p.D127D	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	127	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCCTTTCTTATCTCCGTGAA	0.587000													6	75					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169993	32169993	+	Silent	SNP	C	C	A	rs61729678		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:32169993C>A	ENST00000375023.3	-	21	3753	c.3615G>T	c.(3613-3615)ctG>ctT	p.L1205L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1205					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGGGACTCCCAGAGAGCAGT	0.652000													18	71					3.32936e-07	4.20669e-07	1	1	0
ABTB2	25841	broad.mit.edu	37	11	34173997	34173997	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:34173997C>T	ENST00000435224.2	-	17	3439	c.3015G>A	c.(3013-3015)ctG>ctA	p.L1005L	ABTB2_ENST00000298992.2_Silent_p.L819L	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	819							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)				GCAGGTCCTGCAGTGGATCCA	0.647000													4	4					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22748966	22748966	+	RNA	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:22748966G>T	ENST00000511446.1	+	0	337				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAAAAATGGGGTTACTCCCAT	0.368000													11	137					1.58986e-06	1.92742e-06	1	1	0
SLC5A4	6527	broad.mit.edu	37	22	32614704	32614704	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr22:32614704C>A	ENST00000266086.4	-	15	1788	c.1777G>T	c.(1777-1779)Gag>Tag	p.E593*	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	593					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CGTGATTTCTCAGGATAATCT	0.418000													28	42					2.79863e-10	3.89828e-10	1	1	0
MDC1	9656	broad.mit.edu	37	6	30679203	30679203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:30679203C>A	ENST00000376406.3	-	7	2854	c.2207G>T	c.(2206-2208)aGc>aTc	p.S736I	MDC1_ENST00000376405.2_Missense_Mutation_p.S736I|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	736				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGTCTGGAAGCTGCAATGGGA	0.502000								Other conserved DNA damage response genes					11	38					0.000978159	0.00105275	1	1	0
RAB39B	116442	broad.mit.edu	37	X	154490296	154490296	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:154490296T>C	ENST00000369454.3	-	2	734	c.434A>G	c.(433-435)tAc>tGc	p.Y145C		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	145					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTTCATGCCGTATGCAGCAGC	0.498000													35	27					0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926316	22926316	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:22926316C>A	ENST00000261374.3	+	2	971	c.537C>A	c.(535-537)ccC>ccA	p.P179P		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	179	Substrate binding (By similarity).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGAAGACGCCCAGCTACTTTG	0.567000													35	55					1.08052e-11	1.56029e-11	1	1	0
SLC25A24	29957	broad.mit.edu	37	1	108728465	108728465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:108728465C>A	ENST00000565488.1	-	2	514	c.295G>T	c.(295-297)Gac>Tac	p.D99Y	SLC25A24_ENST00000370041.4_Missense_Mutation_p.D80Y	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	99	EF-hand 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TTATTTTTGTCTAAACTCTTA	0.318000													4	24					0.00909568	0.0094494	1	1	0
PABPC1	26986	broad.mit.edu	37	8	101719186	101719186	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:101719186G>A	ENST00000318607.5	-	10	2504	c.1376C>T	c.(1375-1377)cCt>cTt	p.P459L	PABPC1_ENST00000522387.1_Missense_Mutation_p.P427L|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.P414L	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	459					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGGTGGTCTAGGAGCAGCTGG	0.413000													9	59					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670029	8670029	+	Missense_Mutation	SNP	G	G	T	rs141630862		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:8670029G>T	ENST00000270328.4	-	3	569	c.303C>A	c.(301-303)caC>caA	p.H101Q	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.H101Q			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	101					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCACGGAGACGTGCCCTGCCA	0.697000													6	26					0.0215528	0.0220842	1	1	0
SORCS1	114815	broad.mit.edu	37	10	108366923	108366923	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:108366923C>A	ENST00000263054.6	-	23	3173		c.e23+1		SORCS1_ENST00000344440.6_Splice_Site|SORCS1_ENST00000369698.1_Splice_Site|SORCS1_ENST00000478809.2_Splice_Site	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1							integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGGGGACTCACCTGCTCCAGG	0.498000													7	50					8.12818e-05	9.23994e-05	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113293524	113293524	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:113293524A>T	ENST00000297405.5	-	59	9631	c.9387T>A	c.(9385-9387)gaT>gaA	p.D3129E	CSMD3_ENST00000343508.3_Missense_Mutation_p.D3089E|CSMD3_ENST00000455883.2_Missense_Mutation_p.D2960E|CSMD3_ENST00000352409.3_Missense_Mutation_p.D3059E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3129	Sushi 23.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGTTGTGCCATCAATTCGGA	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	54					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179543515	179543515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:179543515G>T	ENST00000589042.1	-	143	34009	c.33785C>A	c.(33784-33786)cCa>cAa	p.P11262Q	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P10945Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10018Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10945	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTGGTACTGGTACTTTCTC	0.368000													15	71					4.14922e-12	6.03816e-12	1	1	0
LSP1	4046	broad.mit.edu	37	11	1908785	1908785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:1908785G>T	ENST00000406638.2	+	10	2128	c.826G>T	c.(826-828)Gct>Tct	p.A276S	LSP1_ENST00000381775.1_Missense_Mutation_p.A466S|LSP1_ENST00000311604.3_Missense_Mutation_p.A338S|LSP1_ENST00000405957.2_Missense_Mutation_p.A276S|LSP1_ENST00000485341.1_3'UTR	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	338					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGGGGGCCCGGCTCCCTAGGC	0.592000													6	28					5.9392e-07	7.4042e-07	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768453	77768453	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:77768453C>A	ENST00000521891.2	+	10	9744	c.9296C>A	c.(9295-9297)cCc>cAc	p.P3099H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3054H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3054H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3073H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3054	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACAGCCTACCCCGGACTCCCC	0.542000										HNSCC(33;0.089)			5	96					0.0293803	0.0300225	1	1	0
TRAPPC11	60684	broad.mit.edu	37	4	184606247	184606247	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:184606247G>A	ENST00000334690.6	+	16	1780	c.1578G>A	c.(1576-1578)ctG>ctA	p.L526L	TRAPPC11_ENST00000512476.1_Silent_p.L132L|TRAPPC11_ENST00000357207.4_Silent_p.L526L	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	526																	CTTCAACTCTGAAAGATGACC	0.294000													10	40					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15500789	15500789	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:15500789G>T	ENST00000504595.1	+	1	485	c.4G>T	c.(4-6)Ggc>Tgc	p.G2C		NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	2					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTACAGGATGGGCGCGAACAA	0.697000													27	195					1.55811e-20	2.62492e-20	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201009108	201009108	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:201009108C>G	ENST00000362061.3	-	44	5699	c.5473G>C	c.(5473-5475)Gtg>Ctg	p.V1825L	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.V1806L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1825					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGATCTCCACTTCCTCTGGT	0.612000													38	140					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86378436	86378436	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:86378436G>C	ENST00000410111.3	-	12	1772	c.1385C>G	c.(1384-1386)gCt>gGt	p.A462G	IMMT_ENST00000449247.2_Missense_Mutation_p.A451G|IMMT_ENST00000409051.2_Missense_Mutation_p.A415G|IMMT_ENST00000254636.5_Missense_Mutation_p.A363G|IMMT_ENST00000442664.2_Missense_Mutation_p.A461G	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	462						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTCCTGTTCAGCCTGTATTTC	0.398000													3	43					0	0	1	0	0
GSTM3	2947	broad.mit.edu	37	1	110280799	110280799	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:110280799C>T	ENST00000540225.1	-	6	596	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000361066.2_Missense_Mutation_p.E96K|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000256594.3_Missense_Mutation_p.E96K			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	96	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	ATCTTTTCTTCTTCAGTCTCA	0.488000													7	50					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262394	7262394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:7262394G>T	ENST00000361972.4	-	11	1399	c.1309C>A	c.(1309-1311)Cta>Ata	p.L437I	SFMBT2_ENST00000397167.1_Missense_Mutation_p.L437I	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	437					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGCCACATTAGCCGCCCCTTC	0.532000													41	228					1.59932e-28	2.80163e-28	1	1	0
PCDHB6	56130	broad.mit.edu	37	5	140530172	140530172	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:140530172C>A	ENST00000231136.1	+	1	334	c.334C>A	c.(334-336)Ccc>Acc	p.P112T	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		112	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGGAAAACCCCTTGCAGTT	0.473000													11	58					3.86212e-05	4.45126e-05	1	1	0
LOC101929950	101929950	broad.mit.edu	37	17	36359023	36359023	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:36359023G>T	ENST00000312412.4	-	6	667	c.668C>A	c.(667-669)cCa>cAa	p.P223Q	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.P68Q																kidney(1)|lung(3)	4						ATCAGGGTATGGTTTCCGGTC	0.348000													23	349					1.22574e-08	1.6431e-08	1	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140736090	140736090	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:140736090A>T	ENST00000571252.1	+	1	1323	c.1323A>T	c.(1321-1323)caA>caT	p.Q441H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCACTGCAAGTGATGGACA	0.458000													22	73					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997479	66997479	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:66997479C>G	ENST00000303334.4	+	3	444	c.373C>G	c.(373-375)Ctg>Gtg	p.L125V	CES3_ENST00000394037.1_Missense_Mutation_p.L125V	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	125						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGAGGACTGCCTGGTCCTCAA	0.592000													5	46					0	0	1	0	0
KIAA1715	80856	broad.mit.edu	37	2	176794796	176794796	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:176794796C>G	ENST00000272748.4	-	13	1433	c.1186G>C	c.(1186-1188)Gag>Cag	p.E396Q	KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.E427Q	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	396						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TCCTCATTCTCAGTCTCTTGT	0.438000													21	91					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579485	7579485	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:7579485C>A	ENST00000420246.2	-	4	334	c.202G>T	c.(202-204)Gag>Tag	p.E68*	TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E68*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	68	Interaction with HRMT1L2.|Interaction with WWOX.		E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAGCAGCCTCTGGCATTCTG	0.607000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			58	99					1.64573e-32	2.92401e-32	1	1	0
MTNR1A	4543	broad.mit.edu	37	4	187455522	187455522	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:187455522C>A	ENST00000307161.5	-	2	575	c.374G>T	c.(373-375)cGc>cTc	p.R125L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	125					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GTAGCAGTAGCGGTTGATGGC	0.567000													10	28					2.17888e-05	2.55455e-05	1	1	0
BCHE	590	broad.mit.edu	37	3	165503972	165503972	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:165503972A>G	ENST00000264381.3	-	3	1811	c.1645T>C	c.(1645-1647)Ttc>Ctc	p.F549L	BCHE_ENST00000540653.1_Missense_Mutation_p.F11L	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	549					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GATGTCCAGAATCGACATTGT	0.358000													11	44					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179647564	179647564	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:179647564G>C	ENST00000589042.1	-	18	3293	c.3069C>G	c.(3067-3069)acC>acG	p.T1023T	TTN_ENST00000460472.2_Silent_p.T977T|TTN_ENST00000591111.1_Silent_p.T1023T|TTN_ENST00000342175.6_Silent_p.T977T|TTN_ENST00000342992.6_Silent_p.T1023T|TTN_ENST00000359218.5_Silent_p.T977T|TTN_ENST00000360870.5_Silent_p.T1023T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1023	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T1023T(3)|p.T977T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTGCTGACGGTTCCAGCCT	0.498000													8	52					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7773086	7773086	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:7773086C>T	ENST00000338316.4	+	18	2345	c.2256C>T	c.(2254-2256)tcC>tcT	p.S752S	ADCY2_ENST00000537121.1_Silent_p.S572S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	752					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.S752S(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATCCTGTTCCGTGTTCCTGC	0.493000													23	234					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20893164	20893164	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:20893164G>T	ENST00000381552.1	+	12	1963	c.1595G>T	c.(1594-1596)gGa>gTa	p.G532V	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G532V|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G532V|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G414V|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G483V			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	532					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TCTAAATCCGGAAATTCCTCA	0.353000													32	86					1.99505e-19	3.287e-19	1	1	0
TMCC2	9911	broad.mit.edu	37	1	205210770	205210770	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:205210770C>A	ENST00000358024.3	+	2	734	c.345C>A	c.(343-345)tcC>tcA	p.S115S	TMCC2_ENST00000545499.1_Silent_p.S37S|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	115						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGGGTATGTCCGACCATGACT	0.637000													14	35					0.000151284	0.000170938	1	1	0
DGKB	1607	broad.mit.edu	37	7	14613946	14613946	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:14613946G>T	ENST00000403951.2	-	20	2083	c.1664C>A	c.(1663-1665)aCa>aAa	p.T555K	DGKB_ENST00000444700.2_Missense_Mutation_p.T536K|DGKB_ENST00000407950.1_Missense_Mutation_p.T547K|DGKB_ENST00000406247.3_Missense_Mutation_p.T555K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.T555K|DGKB_ENST00000399322.3_Missense_Mutation_p.T555K|DGKB_ENST00000402815.1_Missense_Mutation_p.T554K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	555	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CATGATTTCTGTGCTGTTTTC	0.348000													46	117					1.5731e-28	2.76216e-28	1	1	0
PAPPA	5069	broad.mit.edu	37	9	118950203	118950203	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:118950203G>T	ENST00000328252.3	+	2	1555	c.1186G>T	c.(1186-1188)Gac>Tac	p.D396Y		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	396	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGGGAGCTGGACGTGCTGGA	0.577000													17	42					3.99206e-14	6.04465e-14	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181741334	181741334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:181741334C>A	ENST00000526775.1	+	36	5214	c.5049C>A	c.(5047-5049)taC>taA	p.Y1683*	CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.Y1702*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.Y1683*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.Y1702*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.Y1653*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.Y1634*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.Y1309*	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1702					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTACGTGTACTTTGTCTCCT	0.547000													36	134					4.62619e-21	7.81126e-21	1	1	0
THSD7B	80731	broad.mit.edu	37	2	138169421	138169421	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:138169421C>A	ENST00000409968.1	+	14	3116	c.2938C>A	c.(2938-2940)Ccc>Acc	p.P980T	THSD7B_ENST00000272643.3_Missense_Mutation_p.P980T|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.P949T					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACCTGTTGACCCCTCCTTCTG	0.498000													6	46					0.248553	0.249219	1	1	0
MUC2	4583	broad.mit.edu	37	11	1090835	1090835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:1090835G>T	ENST00000441003.2	+	28	3757	c.3730G>T	c.(3730-3732)Ggc>Tgc	p.G1244C	MUC2_ENST00000359061.5_Missense_Mutation_p.G1245C	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1244						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGAGATCTGTGGCCCCAACGG	0.577000													12	28					7.03913e-09	9.4699e-09	1	1	0
PSG11	5680	broad.mit.edu	37	19	43523194	43523194	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:43523194G>A	ENST00000401740.1	-	3	540	c.437C>T	c.(436-438)aCt>aTt	p.T146I	PSG11_ENST00000306322.7_Missense_Mutation_p.T24I|PSG11_ENST00000320078.7_Missense_Mutation_p.T146I|PSG11_ENST00000403486.1_Missense_Mutation_p.T24I|PSG11_ENST00000595312.1_5'UTR			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	146					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GGGCTTGGGAGTCTCCACTGT	0.507000													81	185					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004718	102004718	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:102004718C>T	ENST00000372735.1	+	4	1380	c.795C>T	c.(793-795)tgC>tgT	p.C265C	BHLHB9_ENST00000447531.1_Silent_p.C265C|BHLHB9_ENST00000361229.4_Silent_p.C265C|BHLHB9_ENST00000457056.1_Silent_p.C265C|BHLHB9_ENST00000448867.1_Silent_p.C265C			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	265						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAACAGCTTGCCGCCCTTCTA	0.502000													15	35					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119549368	119549368	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:119549368T>A	ENST00000264025.3	-	2	717	c.187A>T	c.(187-189)Acc>Tcc	p.T63S	PVRL1_ENST00000341398.2_Missense_Mutation_p.T63S|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.T63S	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	63	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTGACCTGGGTGATCTTCACG	0.597000													9	38					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544203	82544203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:82544203C>A	ENST00000423517.2	-	7	13436	c.13099G>T	c.(13099-13101)Gtt>Ttt	p.V4367F	PCLO_ENST00000437081.1_Missense_Mutation_p.V1087F|PCLO_ENST00000333891.8_Missense_Mutation_p.V4367F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4298					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						GGCTGGCCAACAGGACTGAGT	0.517000													9	48					3.09899e-07	3.92888e-07	1	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530395	80530395	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:80530395A>C	ENST00000295057.3	-	2	1206	c.550T>G	c.(550-552)Tgc>Ggc	p.C184G	LRRTM1_ENST00000409148.1_Missense_Mutation_p.C184G|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	184						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGGCTGCGGCAGTCCTGGAAG	0.612000										HNSCC(69;0.2)			10	60					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404249	124404249	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:124404249G>C	ENST00000303921.2	-	1	1432	c.782C>G	c.(781-783)gCc>gGc	p.A261G		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	261						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GACCGCGTAGGCTCCATAGGA	0.607000													9	47					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246487	56246487	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:56246487C>A	ENST00000361673.3	-	4	1734	c.1521G>T	c.(1519-1521)ggG>ggT	p.G507G		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	507							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTGGCTCATCCCTGAGTTTT	0.512000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	152					5.49717e-05	6.32597e-05	1	1	0
PDHA2	5161	broad.mit.edu	37	4	96761473	96761473	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:96761473G>T	ENST00000295266.4	+	1	235	c.172G>T	c.(172-174)Gag>Tag	p.E58*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	58					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CACTAGGGCGGAGGGGCTTAA	0.458000													7	49					2.0095e-06	2.42828e-06	1	1	0
EDN3	1908	broad.mit.edu	37	20	57876558	57876558	+	Missense_Mutation	SNP	C	C	A	rs148646322		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:57876558C>A	ENST00000311585.7	+	2	516	c.146C>A	c.(145-147)aCt>aAt	p.T49N	EDN3_ENST00000371028.2_Missense_Mutation_p.T49N|EDN3_ENST00000395654.3_Missense_Mutation_p.T49N|EDN3_ENST00000371025.3_Missense_Mutation_p.T49N|EDN3_ENST00000337938.2_Missense_Mutation_p.T49N	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	49					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					TGTGAAGAGACTGTGGCTGGC	0.682000													8	40					1.58986e-06	1.92742e-06	1	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156651382	156651382	+	Nonstop_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:156651382A>T	ENST00000296518.7	+	10	2281	c.2072A>T	c.(2071-2073)tAg>tTg	p.*691L	GUCY1A3_ENST00000506455.1_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000393832.3_Nonstop_Mutation_p.*433L|GUCY1A3_ENST00000455639.2_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000511108.1_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000513574.1_Nonstop_Mutation_p.*691L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	0					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGAATAGATTAGCAACCTATA	0.388000													7	45					0	0	1	0	0
IGF2	3481	broad.mit.edu	37	11	2154386	2154386	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:2154386C>A	ENST00000416167.2	-	4	1540	c.374G>T	c.(373-375)cGc>cTc	p.R125L	IGF2_ENST00000381392.1_Missense_Mutation_p.R128L|IGF2_ENST00000381389.1_Missense_Mutation_p.R125L|IGF2_ENST00000381395.1_Missense_Mutation_p.R125L|IGF2_ENST00000434045.2_Missense_Mutation_p.R181L|IGF2_ENST00000300632.5_Missense_Mutation_p.R125L|IGF2_ENST00000381406.4_Missense_Mutation_p.R128L|IGF2_ENST00000337883.6_Missense_Mutation_p.R125L|IGF2_ENST00000418738.2_Missense_Mutation_p.R125L			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	125					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCTGCGCAGGCGCTGGGTGGA	0.667000													6	16					0.00116845	0.00125035	1	1	0
TYR	7299	broad.mit.edu	37	11	88911891	88911891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:88911891C>A	ENST00000263321.5	+	1	1272	c.770C>A	c.(769-771)cCc>cAc	p.P257H	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	257					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GGTCAGCACCCCACAAATCCT	0.453000													32	90					9.65021e-13	1.42094e-12	1	1	0
ACSL5	51703	broad.mit.edu	37	10	114164554	114164554	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:114164554A>G	ENST00000393081.1	+	5	729	c.422A>G	c.(421-423)aAt>aGt	p.N141S	ACSL5_ENST00000354655.4_Missense_Mutation_p.N141S|ACSL5_ENST00000433418.1_Missense_Mutation_p.N141S|ACSL5_ENST00000356116.1_Missense_Mutation_p.N197S|ACSL5_ENST00000354273.4_Missense_Mutation_p.N141S|ACSL5_ENST00000479936.1_3'UTR	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	141					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TTTGCTCAGAATAGGCCAGAG	0.408000													28	136					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137154319	137154319	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:137154319G>C	ENST00000453654.1	-	25	2113	c.1574C>G	c.(1573-1575)tCt>tGt	p.S525C	DGKI_ENST00000446122.1_Missense_Mutation_p.S807C|DGKI_ENST00000288490.5_Missense_Mutation_p.S825C|DGKI_ENST00000424189.2_Missense_Mutation_p.S828C			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	825					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCACCGAGGAGAGAGCCTCTG	0.527000													10	47					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45535891	45535891	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:45535891G>A	ENST00000361462.2	+	17	4853	c.4670G>A	c.(4669-4671)cGt>cAt	p.R1557H	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.R1504H			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1504							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAAGACTTTCGTGATCGTATT	0.358000													6	82					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25820019	25820019	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:25820019A>G	ENST00000244527.4	-	4	447	c.332T>C	c.(331-333)aTt>aCt	p.I111T	SLC17A1_ENST00000476801.1_Missense_Mutation_p.I111T|SLC17A1_ENST00000427328.1_Missense_Mutation_p.I111T|SLC17A1_ENST00000468082.1_Missense_Mutation_p.I111T	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	111					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGCAAAGCCAATCATTTTCTT	0.453000													13	80					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10409131	10409131	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:10409131C>A	ENST00000226207.5	-	19	2266	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	724	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTCTGACCTCTGTTTGAAGT	0.383000													15	36					2.4624e-09	3.34886e-09	1	1	0
EPHB1	2047	broad.mit.edu	37	3	134825299	134825299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:134825299C>A	ENST00000398015.3	+	4	1185	c.815C>A	c.(814-816)gCa>gAa	p.A272E	EPHB1_ENST00000493838.1_5'UTR|EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	272	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCTTGCCCTGCAGGGACATTC	0.557000													15	32					1.5739e-10	2.21709e-10	1	1	0
ROPN1L	83853	broad.mit.edu	37	5	10461347	10461347	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:10461347G>T	ENST00000503804.1	+	5	990	c.469G>T	c.(469-471)Gag>Tag	p.E157*	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Nonsense_Mutation_p.E157*			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	157					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						GGACGATCCGGAGGGCGGGCC	0.567000													73	90					2.51111e-31	4.45096e-31	1	1	0
CD300LG	146894	broad.mit.edu	37	17	41926217	41926217	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:41926217G>A	ENST00000317310.4	+	2	376	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	CD300LG_ENST00000586233.1_Missense_Mutation_p.R112Q|CD300LG_ENST00000377203.4_Missense_Mutation_p.R112Q|CD300LG_ENST00000539718.1_Missense_Mutation_p.R112Q|CD300LG_ENST00000293396.8_Missense_Mutation_p.R112Q|CD300LG_ENST00000588884.1_Missense_Mutation_p.R112Q	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	112	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTCGAAAAACGGGGCCCCGAT	0.582000													17	72					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81635091	81635091	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:81635091G>T	ENST00000356860.3	-	17	1843	c.1505C>A	c.(1504-1506)cCa>cAa	p.P502Q	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.P502Q|CACNA2D1_ENST00000464354.1_5'UTR	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	502	Cache.					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)	TGTAAAACGTGGTGTCAGTCT	0.348000													11	51					4.68919e-08	6.18609e-08	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77690524	77690524	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:77690524C>A	ENST00000521891.2	+	4	3622	c.3174C>A	c.(3172-3174)gtC>gtA	p.V1058V	ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Silent_p.V1032V|ZFHX4_ENST00000050961.6_Silent_p.V1032V|ZFHX4_ENST00000518282.1_Silent_p.V1032V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1032						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCACCAAGGTCAAGTTGAATC	0.542000										HNSCC(33;0.089)			42	117					5.59293e-11	7.95344e-11	1	1	0
ZBTB25	7597	broad.mit.edu	37	14	64957115	64957115	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:64957115G>C	ENST00000394715.1	-	5	838	c.137C>G	c.(136-138)tCt>tGt	p.S46C	ZBTB25_ENST00000261683.2_Missense_Mutation_p.S46C|ZBTB25_ENST00000555220.1_Missense_Mutation_p.S46C|ZBTB25_ENST00000555424.1_Missense_Mutation_p.S46C			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	46	BTB.					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		GAAATAGTTAGAAAAAGCAGC	0.328000													13	72					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95650954	95650954	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:95650954C>T	ENST00000436874.1	+	3	302	c.197C>T	c.(196-198)aCc>aTc	p.T66I	VEZT_ENST00000261219.6_Missense_Mutation_p.T18I|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	66						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GTGGCTGAAACCATCAAAAGT	0.348000													5	11					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455353	29455353	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:29455353C>G	ENST00000377127.3	-	1	385	c.327G>C	c.(325-327)atG>atC	p.M109I		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	109						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGATGTATACCATGTAGGGAT	0.527000													8	52					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162459336	162459336	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:162459336C>T	ENST00000306100.5	-	10	1730	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	FSTL5_ENST00000427802.2_Missense_Mutation_p.D431N|FSTL5_ENST00000379164.4_Missense_Mutation_p.D431N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D431N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	432						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTAGCAGAGTCTTCCACAAAA	0.403000													21	191					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66276549	66276549	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:66276549G>T	ENST00000532677.1	+	18	2499		c.e18-1		DPP3_ENST00000360510.2_Splice_Site|DPP3_ENST00000541961.1_Splice_Site|DPP3_ENST00000453114.1_Splice_Site|DPP3_ENST00000531863.1_Splice_Site|CTD-3074O7.11_ENST00000419755.3_Intron|DPP3_ENST00000530165.1_Splice_Site	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3						proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTCCTCCCCAGGCTCAGACGT	0.493000													13	120					9.16793e-09	1.23117e-08	1	1	0
FLG2	388698	broad.mit.edu	37	1	152325946	152325946	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:152325946C>A	ENST00000388718.5	-	3	4388	c.4316G>T	c.(4315-4317)aGa>aTa	p.R1439I	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1439							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATTGTGGTCTGTGTGAGCC	0.527000													158	397					3.59047e-61	6.55043e-61	1	1	0
TSIX	9383	broad.mit.edu	37	X	73041025	73041025	+	RNA	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:73041025G>T	ENST00000604411.1	+	0	28986				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AAAATGTACAGAATGAAAACT	0.368000													3	14					0.115264	0.11651	1	1	0
LYST	1130	broad.mit.edu	37	1	235883977	235883977	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:235883977C>G	ENST00000389794.3	-	40	9718	c.9544G>C	c.(9544-9546)Gat>Cat	p.D3182H	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.D3182H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3182	BEACH.				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)			ATCAACAGATCATTGAGGTCA	0.348000													12	124					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48250146	48250146	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:48250146T>C	ENST00000394747.1	-	6	1179	c.830A>G	c.(829-831)tAt>tGt	p.Y277C	ABCC11_ENST00000394748.1_Missense_Mutation_p.Y277C|ABCC11_ENST00000353782.5_Missense_Mutation_p.Y277C|ABCC11_ENST00000356608.2_Missense_Mutation_p.Y277C|ABCC11_ENST00000537808.1_Missense_Mutation_p.Y277C	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	277	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TAGGGGTCCATAGCACACCCC	0.478000													22	134					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853926	88853926	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:88853926C>A	ENST00000537554.1	-	2	4630	c.1068G>T	c.(1066-1068)tgG>tgT	p.W356C	CNR1_ENST00000549890.1_Missense_Mutation_p.W356C|CNR1_ENST00000369499.2_Missense_Mutation_p.W356C|CNR1_ENST00000549716.1_Missense_Mutation_p.W295C|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.W356C|CNR1_ENST00000369501.2_Missense_Mutation_p.W356C|CNR1_ENST00000468898.1_Missense_Mutation_p.W323C|CNR1_ENST00000535130.1_Missense_Mutation_p.W356C	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	356					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GCAGAGGGCCCCAGCAGATGA	0.522000													9	98					1.12685e-05	1.33579e-05	1	1	0
CNTN4	152330	broad.mit.edu	37	3	2778005	2778005	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:2778005A>G	ENST00000397461.1	+	4	546	c.162A>G	c.(160-162)ggA>ggG	p.G54G	CNTN4_ENST00000418658.1_Silent_p.G54G|CNTN4_ENST00000427331.1_Silent_p.G54G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	54	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGTTAAAGGAAATCCAAAAC	0.353000													9	84					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87635137	87635137	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:87635137T>A	ENST00000376214.1	+	20	3127	c.2189T>A	c.(2188-2190)aTg>aAg	p.M730K	NTRK2_ENST00000323115.4_Missense_Mutation_p.M714K|NTRK2_ENST00000376213.1_Missense_Mutation_p.M714K|NTRK2_ENST00000277120.3_Missense_Mutation_p.M730K	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	714	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GGCCACACAATGCTGCCCATT	0.572000										TSP Lung(25;0.17)			29	77					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113524823	113524823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:113524823C>A	ENST00000505019.1	-	10	2958	c.2833G>T	c.(2833-2835)Gga>Tga	p.G945*	C4orf21_ENST00000309071.5_Nonsense_Mutation_p.G945*	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	945										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTAGCTGATCCTTTTACTTGA	0.368000													11	58					5.16669e-11	7.38945e-11	1	1	0
LRP4	4038	broad.mit.edu	37	11	46918425	46918425	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:46918425T>C	ENST00000378623.1	-	8	1159	c.917A>G	c.(916-918)aAt>aGt	p.N306S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	306					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACCACCTGTATTCTCACAGTT	0.567000													10	98					0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151236486	151236486	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:151236486G>T	ENST00000368884.3	+	3	344	c.264G>T	c.(262-264)acG>acT	p.T88T	PSMD4_ENST00000469786.2_3'UTR|PSMD4_ENST00000368881.4_Silent_p.T88T	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	88	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTTCTGCACGGGCATCCGCG	0.572000													3	12					0.00024832	0.000276816	1	1	0
SDCCAG8	10806	broad.mit.edu	37	1	243652359	243652359	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:243652359C>G	ENST00000366541.3	+	17	2147	c.2029C>G	c.(2029-2031)Ctg>Gtg	p.L677V	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.L532V|AKT3_ENST00000336199.5_Intron|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.L634V	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	677	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AGCCCAGCAGCTGGTGCAGCT	0.587000													4	41					0	0	1	0	0
R3HDML	140902	broad.mit.edu	37	20	42972100	42972100	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:42972100C>A	ENST00000217043.2	+	3	636	c.464C>A	c.(463-465)cCa>cAa	p.P155Q		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	155						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GACTGTAACCCACACTGCCCC	0.622000													17	56					4.63292e-17	7.40476e-17	1	1	0
CD1D	912	broad.mit.edu	37	1	158151905	158151905	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:158151905G>T	ENST00000368171.3	+	4	911	c.412G>T	c.(412-414)Gga>Tga	p.G138*		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	138					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCATTTCAAGGAAAAGATAT	0.512000													66	248					3.57465e-26	6.21822e-26	1	1	0
SKI	6497	broad.mit.edu	37	1	2160515	2160515	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:2160515G>C	ENST00000378536.4	+	1	382	c.310G>C	c.(310-312)Gta>Cta	p.V104L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	104					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CTGCGAGACCGTACTGGAAGG	0.692000													5	10					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584589	138584589	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:138584589G>T	ENST00000251691.4	+	12	2135	c.1969G>T	c.(1969-1971)Gcc>Tcc	p.A657S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	657	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCGAACTGCCGCCCTGTCTCT	0.607000													10	77					1.76689e-08	2.34749e-08	1	1	0
OR5B17	219965	broad.mit.edu	37	11	58126193	58126193	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:58126193G>T	ENST00000357377.3	-	1	349	c.350C>A	c.(349-351)gCc>gAc	p.A117D		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCGGTCATAGGCCATTGAGGA	0.473000													10	90					7.48243e-07	9.22052e-07	1	1	0
IL32	9235	broad.mit.edu	37	16	3119310	3119310	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:3119310A>T	ENST00000525643.2	+	7	853	c.521A>T	c.(520-522)gAg>gTg	p.E174V	IL32_ENST00000325568.5_Missense_Mutation_p.E174V|IL32_ENST00000396887.3_Missense_Mutation_p.E117V|IL32_ENST00000530890.1_Missense_Mutation_p.E154V|IL32_ENST00000529550.1_Missense_Mutation_p.E174V|IL32_ENST00000552936.1_Missense_Mutation_p.E198V|IL32_ENST00000444393.3_Missense_Mutation_p.E174V|IL32_ENST00000551513.1_Missense_Mutation_p.E211V|IL32_ENST00000548652.1_Missense_Mutation_p.E165V|IL32_ENST00000548476.1_Missense_Mutation_p.E220V|IL32_ENST00000529699.1_Missense_Mutation_p.E154V|IL32_ENST00000008180.9_Missense_Mutation_p.E154V|IL32_ENST00000531965.1_Missense_Mutation_p.E164V|IL32_ENST00000534507.1_Missense_Mutation_p.E220V|IL32_ENST00000382213.3_Missense_Mutation_p.E165V|IL32_ENST00000440815.3_Missense_Mutation_p.E174V|IL32_ENST00000533097.2_Missense_Mutation_p.E174V|IL32_ENST00000548246.1_Missense_Mutation_p.E134V|IL32_ENST00000528163.2_Missense_Mutation_p.E174V|IL32_ENST00000552664.1_Missense_Mutation_p.E174V|IL32_ENST00000526464.2_Missense_Mutation_p.E174V|IL32_ENST00000552356.1_Missense_Mutation_p.E154V|IL32_ENST00000551122.1_Missense_Mutation_p.E117V|IL32_ENST00000396890.2_Missense_Mutation_p.E220V|IL32_ENST00000549213.1_Missense_Mutation_p.E117V|IL32_ENST00000530538.2_Missense_Mutation_p.E174V			P24001	IL32_HUMAN	interleukin 32	220					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GGGGACAAGGAGGAGCTGACA	0.582000													11	169					0	0	1	0	0
FBP1	2203	broad.mit.edu	37	9	97365818	97365818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:97365818C>A	ENST00000415431.1	-	8	1091	c.862G>T	c.(862-864)Gtc>Ttc	p.V288F	FBP1_ENST00000375326.4_Missense_Mutation_p.V288F	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	288					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TTCTCCATGACGTAGGCCATG	0.542000											OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	40					1.3612e-06	1.66642e-06	1	1	0
CDH2	1000	broad.mit.edu	37	18	25591899	25591899	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:25591899G>A	ENST00000269141.3	-	4	880	c.457C>T	c.(457-459)Cac>Tac	p.H153Y	CDH2_ENST00000399380.3_Missense_Mutation_p.H122Y	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	153					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTGTAGGTGGCCACTGTGC	0.453000													11	102					0	0	1	0	0
OSER1	51526	broad.mit.edu	37	20	42825709	42825709	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:42825709C>G	ENST00000372970.2	-	6	1042	c.862G>C	c.(862-864)Gaa>Caa	p.E288Q	OSER1_ENST00000255174.2_Missense_Mutation_p.E288Q					oxidative stress responsive serine-rich 1																		TACATCATTTCTGCCATGTGG	0.418000													27	87					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11346640	11346640	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:11346640T>C	ENST00000304623.8	-	9	1661	c.1472A>G	c.(1471-1473)tAt>tGt	p.Y491C	CTNND2_ENST00000503622.1_Missense_Mutation_p.Y154C|CTNND2_ENST00000458100.2_Missense_Mutation_p.Y58C|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.Y400C|CTNND2_ENST00000359640.2_Missense_Mutation_p.Y491C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	491					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCCGGCGGCATAGCTGGCCCT	0.657000													7	115					0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46406966	46406966	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:46406966G>T	ENST00000433765.2	-	1	1141	c.1142C>A	c.(1141-1143)gCt>gAt	p.A381D		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	381					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CTGGTTGCGAGCGATGCTGGC	0.622000													9	121					0.0581538	0.0590217	1	1	0
SLC33A1	9197	broad.mit.edu	37	3	155571625	155571625	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:155571625C>A	ENST00000392845.2	-	1	542	c.162G>T	c.(160-162)ggG>ggT	p.G54G	SLC33A1_ENST00000359479.3_Silent_p.G54G	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	54					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCCGGTATCCCCCAGAAGAG	0.557000													23	49					2.52088e-20	4.22784e-20	1	1	0
EMILIN2	84034	broad.mit.edu	37	18	2891640	2891640	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:2891640C>A	ENST00000254528.3	+	4	1674	c.1515C>A	c.(1513-1515)ctC>ctA	p.L505L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	505					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGAGCGTTCTCCTACAGATGA	0.547000													10	77					4.68919e-08	6.18609e-08	1	1	0
CDK5RAP2	55755	broad.mit.edu	37	9	123165113	123165113	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:123165113T>A	ENST00000349780.4	-	34	5457	c.5278A>T	c.(5278-5280)Agc>Tgc	p.S1760C	CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1719C|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S1681C|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1728C	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1760	Interaction with CDK5R1 (By similarity).|Interaction with PCNT and AKAP9.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTTGTGGAGCTGGGAGCCTCT	0.577000													20	50					0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29854858	29854858	+	Splice_Site	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:29854858A>G	ENST00000325874.8	+	11	1503		c.e11-1		RAB11FIP4_ENST00000394744.2_Splice_Site	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)						cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TCCTTTCGCCAGGGTGCAGCA	0.483000													4	11					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23866757	23866757	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:23866757G>T	ENST00000405093.3	-	16	2027	c.1957C>A	c.(1957-1959)Cac>Aac	p.H653N	MYH6_ENST00000356287.3_Missense_Mutation_p.H653N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	653	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTACCCGGTGGAGAGCCGAC	0.542000													10	69					3.86212e-05	4.45126e-05	1	1	0
APLNR	187	broad.mit.edu	37	11	57003659	57003659	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:57003659C>T	ENST00000606794.1	-	1	1016	c.820G>A	c.(820-822)Ggc>Agc	p.G274S		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	274						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGCAGGCTGCCCAGCATGTAC	0.597000													16	30					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25523106	25523106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:25523106C>A	ENST00000264709.3	-	3	416	c.79G>T	c.(79-81)Gag>Tag	p.E27*	DNMT3A_ENST00000406659.3_Nonsense_Mutation_p.E27*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.E27*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	27					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGCTCCTCTCCGTCCTGC	0.682000			"""Mis, F, N, S"""		AML								5	19					0.00116845	0.00125035	1	1	0
NPY5R	4889	broad.mit.edu	37	4	164271597	164271597	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:164271597G>A	ENST00000515560.1	+	4	1694	c.172G>A	c.(172-174)Ggg>Agg	p.G58R	NPY5R_ENST00000338566.3_Missense_Mutation_p.G58R|NPY5R_ENST00000506953.1_Missense_Mutation_p.G58R			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	58					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.G58W(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGGCTTTATGGGGAATCTACT	0.378000													25	156					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841791	5841791	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:5841791T>A	ENST00000317037.2	+	1	248	c.226T>A	c.(226-228)Tgc>Agc	p.C76S	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCACCTTGTGCACCACCAT	0.527000													34	113					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20907087	20907087	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:20907087G>T	ENST00000298925.5	+	6	840		c.e6+1		NELL1_ENST00000532434.1_Splice_Site|NELL1_ENST00000325319.5_Splice_Site|NELL1_ENST00000357134.5_Splice_Site			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)						cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTTATTCAAAGTAAGCACTAA	0.403000													9	29					0.000274275	0.000302147	1	1	0
TTN	7273	broad.mit.edu	37	2	179462456	179462456	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:179462456C>A	ENST00000589042.1	-	294	57577	c.57353G>T	c.(57352-57354)gGa>gTa	p.G19118V	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G10053V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G17477V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G10245V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16550V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G10178V|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17477	Fibronectin type-III 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAGGCTTTCCAGACACATA	0.483000													7	69					0.00198382	0.00210781	1	1	0
SDK1	221935	broad.mit.edu	37	7	4153881	4153881	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:4153881G>T	ENST00000404826.2	+	25	3937	c.3798G>T	c.(3796-3798)gtG>gtT	p.V1266V	SDK1_ENST00000389531.3_Silent_p.V1266V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1266	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGCGAGGTGGTGCGGGGCC	0.637000													5	23					0.000602214	0.000655686	1	1	0
SOX6	55553	broad.mit.edu	37	11	16208425	16208425	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:16208425C>A	ENST00000352083.6	-	5	689	c.612G>T	c.(610-612)caG>caT	p.Q204H	SOX6_ENST00000527619.1_Missense_Mutation_p.Q207H|SOX6_ENST00000528252.1_Missense_Mutation_p.Q204H|SOX6_ENST00000528429.1_Missense_Mutation_p.Q204H|SOX6_ENST00000316399.6_Missense_Mutation_p.Q204H|SOX6_ENST00000396356.3_Missense_Mutation_p.Q204H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	204					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTGCCAGTAGCTGCTCCCGTA	0.493000													63	124					2.20561e-19	3.62593e-19	1	1	0
SULF2	55959	broad.mit.edu	37	20	46313316	46313316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:46313316G>T	ENST00000359930.4	-	6	1598	c.747C>A	c.(745-747)agC>agA	p.S249R	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Missense_Mutation_p.S249R|SULF2_ENST00000484875.1_Missense_Mutation_p.S249R|SULF2_ENST00000467815.1_Missense_Mutation_p.S249R	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	249					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CGTAGTTGTAGCTCGGCGTGC	0.632000													18	33					1.01871e-10	1.44045e-10	1	1	0
ZNF33A	7581	broad.mit.edu	37	10	38344699	38344699	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:38344699G>A	ENST00000374618.3	+	5	1825	c.1647G>A	c.(1645-1647)ggG>ggA	p.G549G	ZNF33A_ENST00000432900.2_Silent_p.G555G|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Silent_p.G548G|ZNF33A_ENST00000307441.9_Silent_p.G548G	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	548			Q -> E (in dbSNP:rs2505232).			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						CACACACAGGGCAGAAACCCT	0.428000													10	127					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100061934	100061934	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:100061934G>T	ENST00000524871.1	+	14	1947	c.1657G>T	c.(1657-1659)Ggg>Tgg	p.G553W	CNTN5_ENST00000527185.1_Missense_Mutation_p.G553W|CNTN5_ENST00000279463.3_Missense_Mutation_p.G553W|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.G553W|CNTN5_ENST00000418526.2_Missense_Mutation_p.G479W	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	553	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CGTTTGCCGAGGGGAAAACGT	0.393000													14	49					2.61681e-11	3.76419e-11	1	1	0
SLC6A4	6532	broad.mit.edu	37	17	28544217	28544217	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:28544217G>A	ENST00000401766.2	-	5	1316	c.804C>T	c.(802-804)ttC>ttT	p.F268F	SLC6A4_ENST00000261707.3_Silent_p.F268F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	268					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TCCAGATGCTGAAGTAGATAA	0.597000													29	102					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24185863	24185863	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:24185863C>G	ENST00000303531.7	+	12	1508	c.1356C>G	c.(1354-1356)atC>atG	p.I452M	PRKCB_ENST00000321728.7_Missense_Mutation_p.I452M	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	452	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AAATTGCCATCGGTCTGTTCT	0.423000													3	48					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510364	71510364	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:71510364C>G	ENST00000396073.3	+	9	3502	c.3221C>G	c.(3220-3222)tCt>tGt	p.S1074C	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1074					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGAACTCCATCTAGCGATGGA	0.443000													25	72					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545480	234545480	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:234545480T>C	ENST00000344644.5	+	1	381	c.312T>C	c.(310-312)agT>agC	p.S104S	UGT1A10_ENST00000373445.1_Silent_p.S104S|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGGCACAAAGTATATTTTCTC	0.378000													24	115					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227264	75227264	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:75227264C>A	ENST00000342232.4	-	2	1011	c.971G>T	c.(970-972)gGc>gTc	p.G324V		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	324					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTCTTTGGAGCCGTCAGGAAA	0.463000													50	142					1.19451e-25	2.05875e-25	1	1	0
RBM12B	389677	broad.mit.edu	37	8	94746661	94746661	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:94746661T>A	ENST00000399300.2	-	3	2191	c.1978A>T	c.(1978-1980)Agg>Tgg	p.R660W	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	660							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGGAGCCACCTTAAGTCCTCC	0.637000													57	132					0	0	1	0	0
CST2	1470	broad.mit.edu	37	20	23805878	23805878	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:23805878C>T	ENST00000304725.2	-	2	381	c.311G>A	c.(310-312)tGt>tAt	p.C104Y		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	104						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						ATGGAAGGCACAGGTGTCCAA	0.547000													15	216					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887785	25887785	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:25887785A>C	ENST00000376351.3	+	11	3589	c.3230A>C	c.(3229-3231)cAa>cCa	p.Q1077P	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1077						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGGGAGAGCCAAGGCCAGTCC	0.493000													24	109					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131343323	131343323	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:131343323G>C	ENST00000372739.3	+	11	1556	c.1446G>C	c.(1444-1446)tgG>tgC	p.W482C	SPTAN1_ENST00000372731.4_Missense_Mutation_p.W482C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.W482C	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	482					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGGACAACTGGATGAGCAAGC	0.572000													12	94					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72308204	72308204	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:72308204G>T	ENST00000579490.1	+	11	1863	c.1728G>T	c.(1726-1728)ctG>ctT	p.L576L	DNAI2_ENST00000311014.6_Silent_p.L519L|DNAI2_ENST00000582036.1_Silent_p.L507L|DNAI2_ENST00000446837.2_Silent_p.L519L|DNAI2_ENST00000307504.5_Silent_p.L376L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	519					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGATGCGGCTGAAGGAGAAGG	0.647000									Kartagener syndrome				4	37					2.56e-06	3.08354e-06	1	1	0
MASP1	5648	broad.mit.edu	37	3	186943140	186943140	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:186943140G>A	ENST00000337774.5	-	13	2102	c.1713C>T	c.(1711-1713)atC>atT	p.I571I		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	571	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGGCAGACAGATGGGCATCA	0.582000													63	66					0	0	1	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478932	141478932	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:141478932C>T	ENST00000247881.2	+	1	691	c.644C>T	c.(643-645)aCt>aTt	p.T215I	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	215					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		AAAAATGCCACTGGTTTCTGG	0.443000													4	98					0	0	1	0	0
CD151	977	broad.mit.edu	37	11	838021	838021	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:838021G>T	ENST00000397420.3	+	8	944	c.695G>T	c.(694-696)tGt>tTt	p.C232F	CD151_ENST00000528011.1_Missense_Mutation_p.C230F|CD151_ENST00000322008.4_Missense_Mutation_p.C232F|CD151_ENST00000397421.1_Missense_Mutation_p.C232F			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	232					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCATTGCCTGTGTGCAGGTG	0.667000													7	19					8.12818e-05	9.23994e-05	1	1	0
IRF2BPL	64207	broad.mit.edu	37	14	77492113	77492113	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:77492113G>C	ENST00000238647.3	-	1	2921	c.2023C>G	c.(2023-2025)Cgt>Ggt	p.R675G		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	675						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TCCCCGTTACGTGATGCCAAG	0.677000													9	41					0	0	1	0	0
NOV	4856	broad.mit.edu	37	8	120435290	120435290	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:120435290G>T	ENST00000259526.3	+	5	1219	c.992G>T	c.(991-993)tGc>tTc	p.C331F	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	331	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTGGGACCTGCACCTGTCAC	0.527000													18	222					2.4624e-09	3.34886e-09	1	1	0
SCG2	7857	broad.mit.edu	37	2	224462640	224462640	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:224462640G>T	ENST00000305409.2	-	2	1593	c.1361C>A	c.(1360-1362)cCc>cAc	p.P454H		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	454					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATATGGATTGGGAAAATACGA	0.478000													22	122					1.96292e-10	2.74956e-10	1	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34825135	34825135	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:34825135G>T	ENST00000192788.5	+	12	1632	c.1461G>T	c.(1459-1461)aaG>aaT	p.K487N	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K487N	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	487										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAAGTAAAAAGCCATCTACAC	0.433000													23	75					1.37657e-19	2.273e-19	1	1	0
ARHGEF16	27237	broad.mit.edu	37	1	3390072	3390072	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:3390072C>G	ENST00000378378.4	+	8	1696	c.1291C>G	c.(1291-1293)Ccc>Gcc	p.P431A	ARHGEF16_ENST00000378373.1_Missense_Mutation_p.P143A|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.P135A|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.P143A	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	431	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GACCCGGCTGCCCCTCCTGAT	0.682000													23	48					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687041	21687041	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:21687041C>T	ENST00000444366.2	+	1	181	c.180C>T	c.(178-180)tcC>tcT	p.S60S	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000398485.2_Intron			P15863	PAX1_HUMAN	paired box 1	83					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GTGTTTTCTCCCCCTCCGGCT	0.667000													17	62					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518250	8518250	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:8518250C>A	ENST00000381196.4	-	18	1684	c.1141G>T	c.(1141-1143)Gct>Tct	p.A381S	PTPRD_ENST00000397617.3_Missense_Mutation_p.A371S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A368S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A381S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A368S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A381S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A378S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A381S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A381S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A371S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A378S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	381	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTAGTCCAGCGACACTGTAG	0.468000										TSP Lung(15;0.13)			27	88					6.32553e-13	9.35078e-13	1	1	0
PLEKHB2	55041	broad.mit.edu	37	2	131883344	131883344	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:131883344G>T	ENST00000403716.1	+	3	616	c.56G>T	c.(55-57)tGg>tTg	p.W19L	PLEKHB2_ENST00000538982.1_5'UTR|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.W19L|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.W19L|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.W19L|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.W19L|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.W19L	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	19	PH.					membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TTGAAGCGCTGGAAGAAGAAC	0.413000													16	70					7.05477e-17	1.118e-16	1	1	0
TG	7038	broad.mit.edu	37	8	133894758	133894758	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:133894758G>T	ENST00000220616.4	+	7	830	c.790G>T	c.(790-792)Ggc>Tgc	p.G264C	TG_ENST00000377869.1_Missense_Mutation_p.G264C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	264	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CATTTTTGCTGGCCTGGACCT	0.478000													56	217					1.54043e-34	2.75656e-34	1	1	0
C5orf38	153571	broad.mit.edu	37	5	2753469	2753469	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:2753469G>T	ENST00000515640.1	+	3	423	c.404G>T	c.(403-405)cGg>cTg	p.R135L	C5orf38_ENST00000334000.3_Splice_Site_p.R135_splice|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000397835.4_Intron|C5orf38_ENST00000505778.1_Missense_Mutation_p.R135L			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	135						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GCAGGCTCCCGGTAGGCGCGG	0.657000													11	101					0.000978159	0.00105275	1	1	0
FOXB2	442425	broad.mit.edu	37	9	79635163	79635163	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:79635163C>T	ENST00000376708.1	+	1	593	c.593C>T	c.(592-594)cCc>cTc	p.P198L		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	198					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CCGTCACAGCCCCCGCAGCAA	0.766000													9	15					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635233	42635233	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:42635233C>A	ENST00000358131.5	+	3	447	c.239C>A	c.(238-240)cCg>cAg	p.P80Q	TOX2_ENST00000372999.1_Missense_Mutation_p.P29Q|TOX2_ENST00000341197.3_Missense_Mutation_p.P71Q|TOX2_ENST00000423191.1_Missense_Mutation_p.P29Q	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	80	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GAGATCCCCCCGATAACACCT	0.587000													22	110					1.28384e-07	1.65286e-07	1	1	0
DOCK9	23348	broad.mit.edu	37	13	99537313	99537313	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr13:99537313C>T	ENST00000376460.1	-	21	2374	c.2294G>A	c.(2293-2295)gGa>gAa	p.G765E	DOCK9_ENST00000442173.1_Missense_Mutation_p.G765E|DOCK9_ENST00000448493.2_Missense_Mutation_p.G777E|DOCK9_ENST00000339416.2_Missense_Mutation_p.G766E	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	766	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACCACCCTTCCGTCTTTCAG	0.507000													11	15					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47587797	47587797	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:47587797G>T	ENST00000371917.4	+	10	1331	c.1331G>T	c.(1330-1332)gGc>gTc	p.G444V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	444					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCCAAAAACGGCGTCTCTTCA	0.438000													12	130					0.00185496	0.00197933	1	1	0
TMEM255A	55026	broad.mit.edu	37	X	119410766	119410766	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:119410766C>T	ENST00000371369.4	-	7	875	c.649G>A	c.(649-651)Gct>Act	p.A217T	TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.A77T|TMEM255A_ENST00000309720.5_Missense_Mutation_p.A241T	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		CCAAGGACAGCGGCAGTGATG	0.527000													9	49					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53809911	53809911	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr15:53809911G>A	ENST00000396328.1	-	20	3533	c.3294C>T	c.(3292-3294)ccC>ccT	p.P1098P	WDR72_ENST00000559418.1_Silent_p.P1108P|WDR72_ENST00000557913.1_Silent_p.P1095P|WDR72_ENST00000360509.5_Silent_p.P1098P|WDR72_ENST00000567224.1_5'UTR	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1098										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACACCTTGCAGGGGCAGACCT	0.363000													21	87					0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156294509	156294509	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:156294509G>A	ENST00000311277.4	-	4	523	c.260C>T	c.(259-261)tCa>tTa	p.S87L	MAP9_ENST00000379248.2_Missense_Mutation_p.S15L|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S87L	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	87					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAATAGTTTTGAAGGATTCTT	0.328000													8	38					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247582226	247582226	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:247582226G>T	ENST00000366497.2	+	2	910	c.130G>T	c.(130-132)Ggt>Tgt	p.G44C	NLRP3_ENST00000336119.3_Missense_Mutation_p.G44C|NLRP3_ENST00000391827.2_Missense_Mutation_p.G44C|NLRP3_ENST00000391828.3_Missense_Mutation_p.G44C|NLRP3_ENST00000366496.2_Missense_Mutation_p.G44C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.G44C	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	44	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTCCCGAGGGGTCAGACAGA	0.567000													8	47					0.000157383	0.000176761	1	1	0
SLC12A3	6559	broad.mit.edu	37	16	56913528	56913528	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:56913528G>T	ENST00000438926.2	+	11	1439	c.1410G>T	c.(1408-1410)ctG>ctT	p.L470L	SLC12A3_ENST00000566786.1_Silent_p.L469L|SLC12A3_ENST00000262502.5_Silent_p.L469L|SLC12A3_ENST00000563236.1_Silent_p.L470L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	470					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCTCTGCCCTGGCCTGCCTTG	0.637000													5	61					0.0215528	0.0220842	1	1	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32123712	32123712	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:32123712T>C	ENST00000422437.1	+	5	689	c.498T>C	c.(496-498)taT>taC	p.Y166Y	PPT2_ENST00000445576.2_Silent_p.Y166Y|PPT2_ENST00000375143.2_Silent_p.Y166Y|PPT2_ENST00000375137.2_Silent_p.Y166Y|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000395523.1_Silent_p.Y166Y|PPT2_ENST00000324816.6_Silent_p.Y166Y|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000437001.2_Silent_p.Y43Y|PPT2_ENST00000361568.2_Silent_p.Y172Y																							GGATCTGCTATAGCCCCTGGG	0.537000													10	99					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177250467	177250467	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:177250467C>G	ENST00000361539.4	+	8	2467	c.2155C>G	c.(2155-2157)Cag>Gag	p.Q719E	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		719						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGCACTCTTGCAGCTCATTGA	0.542000													23	162					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50098435	50098435	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:50098435C>T	ENST00000418929.2	+	4	855	c.843C>T	c.(841-843)gcC>gcT	p.A281A		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	17	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGAGCGGGCCCTGCCACGCC	0.701000													8	10					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	122004435	122004435	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:122004435C>A	ENST00000265922.3	-	4	930	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S	DBC1_ENST00000373964.2_Missense_Mutation_p.A157S	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		157	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTTTGAGTGGCATTCCCTGAC	0.483000													26	54					9.04412e-07	1.10902e-06	1	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	58					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95822393	95822393	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:95822393G>A	ENST00000416240.2	-	6	761	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	SLC25A13_ENST00000265631.5_Missense_Mutation_p.R191C|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R83C	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	191	EF-hand 4.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ACATGGGGGCGGATGGTGACC	0.448000													12	64					0	0	1	0	0
UBL4B	164153	broad.mit.edu	37	1	110655635	110655635	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:110655635G>T	ENST00000334179.3	+	1	574	c.479G>T	c.(478-480)aGc>aTc	p.S160I		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	160						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		CGGCCTCAGAGCTCCTGTGAC	0.597000													5	24					5.9392e-07	7.4042e-07	1	1	0
OR4E2	26686	broad.mit.edu	37	14	22133475	22133475	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:22133475A>T	ENST00000408935.1	+	1	179	c.179A>T	c.(178-180)tAt>tTt	p.Y60F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ACCCCCATGTATTTCTTCCTG	0.418000													76	234					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56355306	56355306	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:56355306C>A	ENST00000340482.3	-	6	1358	c.1182G>T	c.(1180-1182)ctG>ctT	p.L394L	MPO_ENST00000225275.3_Silent_p.L362L|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	362					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGACGGCCAGCAGCCCCAGCT	0.642000													8	58					5.18039e-06	6.19989e-06	1	1	0
CHST8	64377	broad.mit.edu	37	19	34180198	34180198	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:34180198G>A	ENST00000262622.3	+	2	789	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	CHST8_ENST00000604556.1_Missense_Mutation_p.A11T|CHST8_ENST00000434302.1_Missense_Mutation_p.A11T|CHST8_ENST00000438847.2_Missense_Mutation_p.A11T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	11					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AATGCGGCTGGCCTGCATGTT	0.652000													24	77					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704146	113704146	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:113704146C>A	ENST00000374431.3	-	4	731	c.348G>T	c.(346-348)ctG>ctT	p.L116L	LPAR1_ENST00000358883.4_Silent_p.L116L|LPAR1_ENST00000374430.2_Silent_p.L116L|LPAR1_ENST00000541779.1_Silent_p.L117L|LPAR1_ENST00000538760.1_Silent_p.L117L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	116					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TGCTAACAGTCAGTCTCCGAG	0.498000													47	91					2.65591e-33	4.74134e-33	1	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20893173	20893173	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:20893173C>T	ENST00000381552.1	+	12	1972	c.1604C>T	c.(1603-1605)tCa>tTa	p.S535L	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S535L|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S535L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S417L|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S486L			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	535					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GGAAATTCCTCAGGCATAGTG	0.373000													34	89					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180675674	180675674	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:180675674G>T	ENST00000357559.4	+	10	1332	c.948G>T	c.(946-948)gtG>gtT	p.V316V	FXR1_ENST00000480918.1_Silent_p.V303V|FXR1_ENST00000305586.7_Silent_p.V231V|FXR1_ENST00000445140.2_Silent_p.V316V|FXR1_ENST00000468861.1_Silent_p.V231V|FXR1_ENST00000491062.1_Silent_p.V267V	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	316					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TGGTTCGAGTGAGAATTGAAG	0.323000													43	56					6.7651e-33	1.20483e-32	1	1	0
PREX1	57580	broad.mit.edu	37	20	47246139	47246139	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:47246139G>A	ENST00000371941.3	-	37	4636	c.4614C>T	c.(4612-4614)gcC>gcT	p.A1538A	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1538					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCTCATCCAGGGCATTGATGG	0.642000													8	72					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256244	15256244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:15256244G>T	ENST00000378116.4	-	8	1349	c.1343C>A	c.(1342-1344)aCt>aAt	p.T448N	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	448						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCCACTTGGAGTGAGGTTATC	0.502000													9	63					0.00448238	0.00472894	1	1	0
PABPC1	26986	broad.mit.edu	37	8	101718960	101718960	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:101718960G>A	ENST00000318607.5	-	11	2649	c.1521C>T	c.(1519-1521)acC>acT	p.T507T	PABPC1_ENST00000522387.1_Silent_p.T475T|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Silent_p.T462T	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	507					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACTGTGGAACGGTGCGGACAG	0.438000													18	69					0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	917141	917141	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:917141G>C	ENST00000166345.3	+	13	1578	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	TRIP13_ENST00000510412.1_3'UTR	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	408					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CGTCACCATAGAGGGGTTCCT	0.592000													12	77					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678887	100678887	+	Missense_Mutation	SNP	C	C	T	rs141608296		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:100678887C>T	ENST00000306151.4	+	3	4254	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1397	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAACCACTCCGTTAACAAGT	0.507000													138	373					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33603269	33603269	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr15:33603269G>T	ENST00000389232.4	+	1	93	c.23G>T	c.(22-24)gGc>gTc	p.G8V	RYR3_ENST00000415757.3_Missense_Mutation_p.G8V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	8					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAGAAGGAGGCGAGGACGAG	0.746000													6	17					1.12685e-05	1.33579e-05	1	1	0
FAF1	11124	broad.mit.edu	37	1	51001120	51001120	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:51001120G>A	ENST00000396153.2	-	15	1866	c.1415C>T	c.(1414-1416)aCa>aTa	p.T472I	FAF1_ENST00000371778.4_Missense_Mutation_p.T472I|FAF1_ENST00000545823.1_Missense_Mutation_p.T230I	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	472					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTCATCTACTGTTGTGTTCCC	0.328000													13	68					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102608499	102608499	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:102608499C>T	ENST00000393772.2	-	7	987	c.561G>A	c.(559-561)ttG>ttA	p.L187L	FBXL13_ENST00000313221.4_Silent_p.L187L|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000456695.1_Silent_p.L187L|FBXL13_ENST00000455112.2_Silent_p.L187L|FBXL13_ENST00000436908.1_Silent_p.L187L|FBXL13_ENST00000379305.3_Silent_p.L187L|FBXL13_ENST00000379306.3_Silent_p.L187L|FBXL13_ENST00000379308.3_Silent_p.L187L			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	187	F-box.									NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GTTGTGTCATCAACATCCAGG	0.343000													9	67					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36489584	36489584	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:36489584A>T	ENST00000229812.7	-	5	602	c.317T>A	c.(316-318)gTt>gAt	p.V106D		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	106	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCTTCTGAACAAGCCGTAC	0.358000													12	60					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221326	5221326	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:5221326C>A	ENST00000321255.1	-	1	604	c.605G>T	c.(604-606)cGa>cTa	p.R202L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R202P(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTATTGAATCGGATGTCTGA	0.408000													17	42					0.000958276	0.00104033	1	1	0
GMEB1	10691	broad.mit.edu	37	1	29030804	29030804	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:29030804T>C	ENST00000373816.1	+	8	969	c.831T>C	c.(829-831)gtT>gtC	p.V277V	GMEB1_ENST00000361872.4_Silent_p.V277V|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000294409.2_Silent_p.V287V	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGGGGAGTTCAGCAGCGGC	0.478000													10	62					0	0	1	0	0
SDF2	6388	broad.mit.edu	37	17	26982498	26982498	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:26982498C>A	ENST00000247020.4	-	2	453	c.155G>T	c.(154-156)aGt>aTt	p.S52I	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	52	MIR 1.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CTGCTGCCCACTACCTGCAGT	0.517000													33	115					3.11337e-16	4.88219e-16	1	1	0
ELMSAN1	91748	broad.mit.edu	37	14	74206049	74206049	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:74206049G>A	ENST00000286523.5	-	2	1445	c.663C>T	c.(661-663)ttC>ttT	p.F221F	ELMSAN1_ENST00000394071.2_Silent_p.F221F	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		CCTGGTGGCCGAATGCCAGCT	0.652000													7	71					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119002578	119002578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:119002578G>T	ENST00000350777.2	+	5	625	c.562G>T	c.(562-564)Gag>Tag	p.E188*	HINFP_ENST00000527410.1_Nonsense_Mutation_p.E188*|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	188					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TAAACTTCGAGAGCACCTCCG	0.547000													23	57					7.87624e-14	1.18779e-13	1	1	0
TRIM15	89870	broad.mit.edu	37	6	30139640	30139640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:30139640C>A	ENST00000376694.4	+	7	1381	c.912C>A	c.(910-912)agC>agA	p.S304R	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	304	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						AGACCGCCAGCCGGAGCCTGG	0.642000													5	10					0.014758	0.0151843	1	1	0
UBXN1	51035	broad.mit.edu	37	11	62446030	62446030	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:62446030C>G	ENST00000294119.2	-	3	288	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.E53Q|UBXN1_ENST00000301935.5_Missense_Mutation_p.E53Q	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	53	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						AGGGGAGTCTCTAAAGGCTCG	0.617000													5	92					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039487	248039487	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:248039487T>A	ENST00000366481.3	+	6	1205	c.1157T>A	c.(1156-1158)cTg>cAg	p.L386Q	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	386	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCCTGTGGCTGCTGAAAGGG	0.547000													68	113					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21875246	21875246	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:21875246G>T	ENST00000377072.3	+	4	612	c.264G>T	c.(262-264)aaG>aaT	p.K88N	MLLT10_ENST00000307729.7_Missense_Mutation_p.K88N|MLLT10_ENST00000446906.2_Missense_Mutation_p.K88N|MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000377059.3_Missense_Mutation_p.K88N	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	88	Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GTCCCCATAAGGATGGAGCTT	0.308000			T	"""MLL, PICALM, CDK6"""	AL								4	15					0.184627	0.18587	1	1	0
CASS4	57091	broad.mit.edu	37	20	55027161	55027161	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:55027161C>T	ENST00000371336.3	+	5	1130	c.929C>T	c.(928-930)cCt>cTt	p.P310L	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.P310L	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	310					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCAGAAATTCCTTCTTATGGC	0.463000													25	53					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9382142	9382142	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:9382142C>A	ENST00000378501.2	+	17	1531	c.1516C>A	c.(1516-1518)Caa>Aaa	p.Q506K	PLCB4_ENST00000278655.4_Missense_Mutation_p.Q506K|PLCB4_ENST00000378493.1_Missense_Mutation_p.Q506K|PLCB4_ENST00000334005.3_Missense_Mutation_p.Q506K|PLCB4_ENST00000378473.3_Missense_Mutation_p.Q506K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.Q506K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	506					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CACAGCTGACCAAGAGGAGGA	0.438000													3	36					0.150653	0.152077	1	1	0
NOS1	4842	broad.mit.edu	37	12	117768676	117768676	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:117768676C>T	ENST00000317775.6	-	2	884	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	NOS1_ENST00000344089.3_Missense_Mutation_p.V67I|NOS1_ENST00000338101.4_Missense_Mutation_p.V67I	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	67	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CGGCCGTTGACCGCAAGAATG	0.632000													25	36					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	419036	419036	+	Silent	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:419036C>G	ENST00000264554.6	-	12	1640	c.1641G>C	c.(1639-1641)ctG>ctC	p.L547L		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	547	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTCTCAAACAGCACGTCCT	0.652000													4	3					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046547	9046547	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:9046547G>T	ENST00000397910.4	-	5	35287	c.35084C>A	c.(35083-35085)cCa>cAa	p.P11695Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11697	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						GCTGGTCTGTGGAGGATGAGT	0.522000													45	75					5.44703e-19	8.87664e-19	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91132808	91132808	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:91132808T>A	ENST00000373094.1	+	2	2414	c.1569T>A	c.(1567-1569)acT>acA	p.T523T	PCDH11X_ENST00000504220.1_Silent_p.T523T|PCDH11X_ENST00000406881.1_Silent_p.T523T|PCDH11X_ENST00000361724.1_Silent_p.T523T|PCDH11X_ENST00000373097.1_Silent_p.T523T|PCDH11X_ENST00000298274.8_Silent_p.T523T|PCDH11X_ENST00000361655.2_Silent_p.T523T|PCDH11X_ENST00000373088.1_Silent_p.T523T|PCDH11X_ENST00000395337.2_Silent_p.T523T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	523	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCATGCTGACTGTAGTGAAGA	0.438000													10	32					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847330	94847330	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:94847330C>T	ENST00000448921.1	-	5	1367	c.795G>A	c.(793-795)ctG>ctA	p.L265L	SERPINA1_ENST00000449399.3_Silent_p.L265L|SERPINA1_ENST00000393088.4_Silent_p.L265L|SERPINA1_ENST00000393087.4_Silent_p.L265L|SERPINA1_ENST00000404814.4_Silent_p.L265L|SERPINA1_ENST00000437397.1_Silent_p.L265L|SERPINA1_ENST00000402629.1_Silent_p.L265L|SERPINA1_ENST00000355814.4_Silent_p.L265L|SERPINA1_ENST00000440909.1_Silent_p.L265L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	265					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GGTATTTCATCAGCAGCACCC	0.512000													9	73					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966598	58966598	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:58966598G>C	ENST00000391696.1	+	3	1189	c.257G>C	c.(256-258)cGa>cCa	p.R86P	ZNF324B_ENST00000545523.1_Missense_Mutation_p.R96P|ZNF324B_ENST00000336614.4_Missense_Mutation_p.R96P			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GAATGGCCACGAGCTTTCCCA	0.557000													43	86					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201436296	201436296	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:201436296G>A	ENST00000357799.4	+	7	1325	c.1227G>A	c.(1225-1227)aaG>aaA	p.K409K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	409					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CTGAAAAAAAGAGAGAAAGAT	0.328000													6	59					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113187949	113187949	+	Silent	SNP	T	T	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:113187949T>G	ENST00000295872.4	-	8	1007	c.748A>C	c.(748-750)Aga>Cga	p.R250R		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	250					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AACAAACCTCTTTGCTCCCCT	0.388000													20	52					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20169985	20169985	+	RNA	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr15:20169985C>A	ENST00000338912.5	-	0	286																											GTAGGCTGTGCCCATGGATGT	0.527000													83	166					9.61239e-26	1.66437e-25	1	1	0
CHRND	1144	broad.mit.edu	37	2	233398942	233398942	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:233398942C>T	ENST00000258385.3	+	11	1293	c.1261C>T	c.(1261-1263)Cca>Tca	p.P421S	CHRND_ENST00000543200.1_Missense_Mutation_p.P406S|CHRND_ENST00000457943.2_Missense_Mutation_p.P227S	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	421					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		AGGCCGGCCCCCAGCAAGCTC	0.602000													14	55					0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726357	168726357	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:168726357C>A	ENST00000305861.1	+	2	1159	c.808C>A	c.(808-810)Ctg>Atg	p.L270M	AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.L270M	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	270					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATATGTGGGACTGTGTCTTCG	0.473000													23	67					1.55795e-14	2.388e-14	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139155262	139155262	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:139155262G>T	ENST00000395297.1	-	16	3801	c.3631C>A	c.(3631-3633)Cga>Aga	p.R1211R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1211										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)			TACCTAATTCGGGATATGGAG	0.398000										HNSCC(54;0.14)			12	53					2.27111e-07	2.89402e-07	1	1	0
TIFAB	497189	broad.mit.edu	37	5	134785511	134785511	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:134785511C>T	ENST00000537858.1	-	2	319	c.119G>A	c.(118-120)cGg>cAg	p.R40Q		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	40	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCCTGCCCCCGTCCGAGAAG	0.662000													4	56					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63069944	63069944	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:63069944G>A	ENST00000332793.6	+	7	1216	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	405						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATATGGGCCGTCGAATAAGC	0.473000													5	104					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12880652	12880652	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:12880652A>G	ENST00000155926.4	+	3	2183	c.764A>G	c.(763-765)cAt>cGt	p.H255R	TRIB2_ENST00000381465.2_Missense_Mutation_p.H119R	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	255	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TACCCTTTCCATGACATTGAA	0.572000													9	28					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171252285	171252285	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:171252285G>T	ENST00000354841.4	+	7	1317	c.1186G>T	c.(1186-1188)Gta>Tta	p.V396L	FMO1_ENST00000367750.3_Missense_Mutation_p.V396L|FMO1_ENST00000402921.2_Missense_Mutation_p.V333L|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	396					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCCTACAGGTGTAAATAAGTT	0.358000													32	77					1.61788e-16	2.54773e-16	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20622838	20622838	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:20622838C>T	ENST00000525748.1	+	2	440	c.167C>T	c.(166-168)tCc>tTc	p.S56F		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	56					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGGTCCGCTTCCACCGGCGCC	0.736000													4	10					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267460	1267460	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:1267460G>A	ENST00000447027.1	+	31	9417	c.9359G>A	c.(9358-9360)aGg>aAg	p.R3120K	MUC5B_ENST00000529681.1_Missense_Mutation_p.R3117K|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3117	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.R3117L(1)|p.R3096L(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACGACAAGGGCCACCAGT	0.637000													21	84					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186645624	186645624	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:186645624G>T	ENST00000367468.5	-	7	1081	c.945C>A	c.(943-945)ttC>ttA	p.F315L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	315					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TGCTTGTCTGGAACAACTGCT	0.423000													38	160					1.58521e-26	2.76395e-26	1	1	0
TTN	7273	broad.mit.edu	37	2	179639156	179639156	+	Missense_Mutation	SNP	G	G	T	rs143679901	by1000genomes	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:179639156G>T	ENST00000589042.1	-	30	7059	c.6835C>A	c.(6835-6837)Cca>Aca	p.P2279T	TTN_ENST00000460472.2_Missense_Mutation_p.P2233T|TTN_ENST00000591111.1_Missense_Mutation_p.P2279T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P2233T|TTN_ENST00000342992.6_Missense_Mutation_p.P2279T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P2233T|TTN_ENST00000360870.5_Missense_Mutation_p.P2279T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2003	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGATTCTGGAACTTCTATG	0.348000													7	67					8.12818e-05	9.23994e-05	1	1	0
OR2J2	26707	broad.mit.edu	37	6	29141709	29141709	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:29141709G>T	ENST00000377167.2	+	1	399	c.297G>T	c.(295-297)atG>atT	p.M99I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTGGTTGCATGGTTCAACTTT	0.478000													51	196					3.4597e-24	5.90835e-24	1	1	0
C17orf78	284099	broad.mit.edu	37	17	35745728	35745728	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:35745728C>A	ENST00000300618.4	+	5	682	c.633_splice	c.e5+1	p.P211_splice	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Intron|ACACA_ENST00000353139.5_Intron|ACACA_ENST00000589665.1_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	211						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				GTCCCATGTCCTGTAAGTTTG	0.398000													8	19					0.000157383	0.000176761	1	1	0
TFAP2D	83741	broad.mit.edu	37	6	50740545	50740545	+	Missense_Mutation	SNP	G	G	C	rs78823892		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:50740545G>C	ENST00000008391.3	+	8	1555	c.1327G>C	c.(1327-1329)Gtg>Ctg	p.V443L		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	443							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGAGGCTGCCGTGAAAGAGGG	0.453000													3	37					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61957912	61957912	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:61957912C>T	ENST00000332800.7	-	4	809	c.676G>A	c.(676-678)Gct>Act	p.A226T	GH2_ENST00000456543.2_Intron|GH2_ENST00000449787.2_Intron|GH2_ENST00000423893.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						AGAGGCCAAGCGCTTGGGCAC	0.532000													22	90					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47944779	47944779	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:47944779T>A	ENST00000289672.2	-	11	1716	c.1666A>T	c.(1666-1668)Aaa>Taa	p.K556*		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	556	PKD 1.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGTCTTTTTTTAATGCTTCTT	0.433000													57	71					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998697	173998697	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:173998697G>C	ENST00000457714.1	+	7	2505	c.2076G>C	c.(2074-2076)ttG>ttC	p.L692F	NLGN1_ENST00000401917.3_Missense_Mutation_p.L732F|NLGN1_ENST00000545397.1_Missense_Mutation_p.L692F|NLGN1_ENST00000361589.4_Missense_Mutation_p.L692F	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	709					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGAACATCTTGGCCTTTGCAG	0.463000													47	55					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104427550	104427550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:104427550G>T	ENST00000297579.5	+	1	609	c.332G>T	c.(331-333)cGc>cTc	p.R111L		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCAGCAGGCCGCCGCTCCGCG	0.637000													22	53					1.50039e-11	2.16241e-11	1	1	0
USH2A	7399	broad.mit.edu	37	1	215848172	215848172	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:215848172G>T	ENST00000366943.2	-	63	13467	c.13081C>A	c.(13081-13083)Cct>Act	p.P4361T	USH2A_ENST00000307340.3_Missense_Mutation_p.P4361T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4361	Fibronectin type-III 29.				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)		AGATCTGGAGGGCTGACTTCT	0.488000										HNSCC(13;0.011)			18	50					3.99206e-14	6.04465e-14	1	1	0
OR1L1	26737	broad.mit.edu	37	9	125424286	125424286	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:125424286C>G	ENST00000373686.1	+	1	442	c.442C>G	c.(442-444)Ctg>Gtg	p.L148V				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CAGTGAGTGTCTGACCCAGAT	0.438000													17	258					0	0	1	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86088367	86088367	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:86088367T>A	ENST00000377332.3	-	3	363	c.255A>T	c.(253-255)ttA>ttT	p.L85F	ST3GAL5_ENST00000525834.2_Missense_Mutation_p.L85F|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.L57F|ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.L62F	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	85					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						TAGTATAATTTAACTTGAGGA	0.333000													30	53					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066400	70066400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:70066400G>A	ENST00000446444.1	-	6	1356	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	450					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GGTTGATCATGTTGAATTCTT	0.383000													27	88					0	0	1	0	0
C3orf72	401089	broad.mit.edu	37	3	138668464	138668464	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:138668464C>G	ENST00000383165.3	+	2	334	c.203C>G	c.(202-204)tCg>tGg	p.S68W		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	68										large_intestine(1)|lung(3)	4						GTCCGGCATTCGAAGGCTCAG	0.577000													39	39					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21856246	21856246	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:21856246C>A	ENST00000328843.6	+	65	10546	c.10515C>A	c.(10513-10515)ccC>ccA	p.P3505P	DNAH11_ENST00000409508.3_Silent_p.P3498P			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3505	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P3505P(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGATAGATCCCCAGCAACAGG	0.488000									Kartagener syndrome				14	28					4.14922e-12	6.03816e-12	1	1	0
FANCM	57697	broad.mit.edu	37	14	45605157	45605157	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:45605157G>A	ENST00000267430.5	+	0	8				FANCM_ENST00000556036.1_De_novo_Start_OutOfFrame|FANCM_ENST00000542564.2_5'UTR	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M						DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAGGAAACCGATGGGGATCG	0.532000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	39					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324822	150324822	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:150324822C>A	ENST00000328902.5	-	3	1080	c.864G>T	c.(862-864)ggG>ggT	p.G288G	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	288							GTP binding	p.G288G(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTCAGCCTTCCCCAGCAGGC	0.582000													16	77					1.15088e-07	1.48424e-07	1	1	0
PCED1B	91523	broad.mit.edu	37	12	47629773	47629773	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:47629773C>A	ENST00000546455.1	+	4	1658	c.927C>A	c.(925-927)cgC>cgA	p.R309R	PCED1B_ENST00000432328.1_Silent_p.R309R					PC-esterase domain containing 1B																		caccccagcgcttgccgctgc	0.647000													20	40					4.35082e-09	5.88501e-09	1	1	0
TRIO	7204	broad.mit.edu	37	5	14481375	14481375	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:14481375G>T	ENST00000344204.4	+	44	6393	c.6369G>T	c.(6367-6369)ctG>ctT	p.L2123L	TRIO_ENST00000537187.1_Silent_p.L2123L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2123	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGGCCAGCCTGGATACATCAG	0.468000													22	277					3.62473e-10	5.02093e-10	1	1	0
SNX7	51375	broad.mit.edu	37	1	99161072	99161072	+	Splice_Site	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:99161072A>T	ENST00000370189.5	+	6	811		c.e6-1		SNX7_ENST00000529992.1_Splice_Site|SNX7_ENST00000306121.3_Splice_Site			Q9UNH6	SNX7_HUMAN	sorting nexin 7						cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TTTTGTTTCTAGGAACTCTCT	0.393000													18	45					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143098433	143098433	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:143098433C>A	ENST00000275815.3	-	3	502	c.416G>T	c.(415-417)cGg>cTg	p.R139L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	139						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R139Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GAACAAGGGCCGTCGGAGCTG	0.587000													11	94					1.58986e-06	1.92742e-06	1	1	0
MYF5	4617	broad.mit.edu	37	12	81112716	81112716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:81112716G>T	ENST00000228644.3	+	3	806	c.654G>T	c.(652-654)gaG>gaT	p.E218D		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	218					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCTCCTCAGAGCAACCTGGGT	0.493000													29	65					9.80776e-20	1.62665e-19	1	1	0
FAT3	120114	broad.mit.edu	37	11	92531031	92531031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:92531031C>A	ENST00000298047.6	+	9	4869	c.4852C>A	c.(4852-4854)Ccg>Acg	p.P1618T	FAT3_ENST00000409404.2_Missense_Mutation_p.P1618T|FAT3_ENST00000525166.1_Missense_Mutation_p.P1468T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1618	Cadherin 15.				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)				TAAGATCGAACCGGTCCTAGG	0.418000										TCGA Ovarian(4;0.039)			21	109					2.21704e-12	3.23895e-12	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238283178	238283178	+	Missense_Mutation	SNP	C	C	T	rs144976132		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:238283178C>T	ENST00000295550.4	-	8	4008	c.3556G>A	c.(3556-3558)Gtg>Atg	p.V1186M	COL6A3_ENST00000392004.3_Missense_Mutation_p.V980M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V579M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V980M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V986M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V980M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V985M|COL6A3_ENST00000392003.2_Missense_Mutation_p.V779M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1186	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAATGGCCACGGCAAAGTCC	0.622000													7	52					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33603268	33603268	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr15:33603268G>T	ENST00000389232.4	+	1	92	c.22G>T	c.(22-24)Ggc>Tgc	p.G8C	RYR3_ENST00000415757.3_Missense_Mutation_p.G8C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	8					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGAGAAGGAGGCGAGGACGA	0.741000													7	17					3.09899e-07	3.92888e-07	1	1	0
PPRC1	23082	broad.mit.edu	37	10	103906433	103906433	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:103906433C>T	ENST00000278070.2	+	9	3723	c.3684C>T	c.(3682-3684)ctC>ctT	p.L1228L	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Silent_p.L195L|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCACAGGGCTCACCCCTCCAG	0.577000													36	93					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175912	140175912	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:140175912T>A	ENST00000526136.1	+	1	1363	c.1363T>A	c.(1363-1365)Ttc>Atc	p.F455I	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.F455I|PCDHA2_ENST00000378132.1_Missense_Mutation_p.F455I	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCCGGCGTTCGCACAGCC	0.652000													28	62					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208841503	208841503	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:208841503G>C	ENST00000457206.1	-	3	1845	c.1418C>G	c.(1417-1419)cCc>cGc	p.P473R	PLEKHM3_ENST00000427836.2_Missense_Mutation_p.P473R|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P473R			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	473					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATCCTTGGGTTTGTTCCT	0.502000													7	43					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123480527	123480527	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:123480527A>C	ENST00000529750.1	+	12	1580	c.1253A>C	c.(1252-1254)aAg>aCg	p.K418T	GRAMD1B_ENST00000450171.2_Missense_Mutation_p.K109T|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.K418T|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.K425T	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	418						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCATGGAAAAAGGAGGAGAAT	0.527000													3	17					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77942393	77942393	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:77942393G>T	ENST00000393684.3	-	8	1388	c.997C>A	c.(997-999)Cag>Aag	p.Q333K	ISM2_ENST00000342219.4_Missense_Mutation_p.Q421K|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Missense_Mutation_p.Q340K|ISM2_ENST00000412904.1_Missense_Mutation_p.Q340K			Q6H9L7	ISM2_HUMAN	isthmin 2	421	TSP type-1.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CGCAGCATCTGGCTCAGATAC	0.602000													17	45					6.94344e-10	9.52972e-10	1	1	0
PCF11	51585	broad.mit.edu	37	11	82877481	82877481	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:82877481G>T	ENST00000298281.4	+	5	1994	c.1542G>T	c.(1540-1542)tcG>tcT	p.S514S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	514					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.S514S(1)|p.S613S(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CTCCAACATCGACACCTAAAG	0.448000													38	117					8.16277e-20	1.35986e-19	1	1	0
USH2A	7399	broad.mit.edu	37	1	216465522	216465522	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:216465522G>A	ENST00000366943.2	-	10	2221	c.1835C>T	c.(1834-1836)aCt>aTt	p.T612I	USH2A_ENST00000366942.3_Missense_Mutation_p.T612I|USH2A_ENST00000307340.3_Missense_Mutation_p.T612I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	612	Laminin EGF-like 2.				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)		CTTACCTGTAGTGTTATGCTC	0.383000										HNSCC(13;0.011)			33	121					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32712470	32712470	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:32712470C>A	ENST00000265074.8	+	1	931	c.588C>A	c.(586-588)caC>caA	p.H196Q	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.H196Q	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	196					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GCCACCACCACTGGAGCCGCG	0.642000													9	111					5.68852e-11	8.07404e-11	1	1	0
PSMB11	122706	broad.mit.edu	37	14	23511515	23511515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:23511515G>T	ENST00000408907.2	+	1	140	c.81G>T	c.(79-81)tgG>tgT	p.W27C		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	27					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGCGGCTGGGCTGTGCCCC	0.642000													7	113					2.0095e-06	2.42828e-06	1	1	0
ANK1	286	broad.mit.edu	37	8	41530184	41530184	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:41530184G>T	ENST00000396942.1	-	38	4867	c.4784C>A	c.(4783-4785)gCc>gAc	p.A1595D	ANK1_ENST00000265709.8_Missense_Mutation_p.A1636D|ANK1_ENST00000379758.2_Missense_Mutation_p.A1595D|ANK1_ENST00000289734.7_Missense_Mutation_p.A1595D|ANK1_ENST00000396945.1_Missense_Mutation_p.A1595D|ANK1_ENST00000347528.4_Missense_Mutation_p.A1595D|ANK1_ENST00000352337.4_Missense_Mutation_p.A1595D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1595	55 kDa regulatory domain.				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)			GTGACCTGTGGCATCAGAGTC	0.597000													77	83					1.25089e-41	2.26006e-41	1	1	0
WASF1	8936	broad.mit.edu	37	6	110434599	110434599	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:110434599G>T	ENST00000392589.1	-	5	1034	c.198C>A	c.(196-198)gtC>gtA	p.V66V	WASF1_ENST00000392588.1_Silent_p.V66V|WASF1_ENST00000392586.1_Silent_p.V66V|WASF1_ENST00000359451.2_Silent_p.V66V|WASF1_ENST00000392587.2_Silent_p.V66V	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	66					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GCAATGAGTTGACTCTGAAGG	0.308000													9	18					0.000274275	0.000302147	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82421638	82421638	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:82421638A>G	ENST00000370728.1	+	13	2544	c.1899A>G	c.(1897-1899)caA>caG	p.Q633Q	LPHN2_ENST00000370723.1_Silent_p.Q620Q|LPHN2_ENST00000370725.1_Silent_p.Q633Q|LPHN2_ENST00000370713.1_Silent_p.Q620Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Silent_p.Q620Q|LPHN2_ENST00000335786.5_Silent_p.Q633Q|LPHN2_ENST00000370717.2_Silent_p.Q633Q|LPHN2_ENST00000359929.3_Silent_p.Q620Q|LPHN2_ENST00000271029.4_Silent_p.Q633Q|LPHN2_ENST00000370727.1_Silent_p.Q633Q|LPHN2_ENST00000370715.1_Silent_p.Q620Q|LPHN2_ENST00000370730.1_Silent_p.Q633Q|LPHN2_ENST00000319517.6_Silent_p.Q620Q|LPHN2_ENST00000370721.1_Silent_p.Q558Q			O95490	LPHN2_HUMAN	latrophilin 2	633					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTCTGAACAAGCACATACTG	0.403000													17	99					0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130111211	130111211	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:130111211G>T	ENST00000373387.4	+	17	1792	c.1440G>T	c.(1438-1440)gaG>gaT	p.E480D	GARNL3_ENST00000314904.5_Missense_Mutation_p.E480D|GARNL3_ENST00000435213.2_Missense_Mutation_p.E458D	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	480					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AGCCGTGGGAGCCCCAGTGTT	0.522000													25	43					3.28513e-13	4.86589e-13	1	1	0
KLHL14	57565	broad.mit.edu	37	18	30349625	30349625	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:30349625C>A	ENST00000359358.4	-	2	1368	c.930G>T	c.(928-930)agG>agT	p.R310S	KLHL14_ENST00000358095.4_Missense_Mutation_p.R310S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	310						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCAGGCTCTGCCTGCAGTGCT	0.657000													8	49					0.00448238	0.00472894	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158606521	158606521	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:158606521G>A	ENST00000368148.3	-	37	5400	c.5220C>T	c.(5218-5220)gaC>gaT	p.D1740D	SPTA1_ENST00000368147.3_Silent_p.D1740D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1740					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCTCCCATAGTCCTGGGAGC	0.483000													56	145					0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42745405	42745405	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:42745405T>A	ENST00000409122.2	+	5	2268	c.2126T>A	c.(2125-2127)tTa>tAa	p.L709*	C17orf104_ENST00000409464.1_Nonsense_Mutation_p.L543*|C17orf104_ENST00000359945.3_Nonsense_Mutation_p.L709*	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	709										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TCCTATGACTTACTTTCTTAT	0.368000													8	16					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241676	126241676	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:126241676G>C	ENST00000394329.3	+	1	4123	c.4110G>C	c.(4108-4110)ggG>ggC	p.G1370G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1370	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAACACTGGGAGTATTTTTC	0.368000													25	152					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61898026	61898026	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:61898026A>T	ENST00000394818.3	+	4	1229	c.1027A>T	c.(1027-1029)Act>Tct	p.T343S	INCENP_ENST00000278849.4_Missense_Mutation_p.T343S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	343					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGCCAAGAAGACTGCCGAAGA	0.607000													11	72					0	0	1	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494372	106494372	+	RNA	SNP	G	G	T	rs1065546		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:106494372G>T	ENST00000390597.2	-	0	139																											AGAAGGTGCAGGTCAGCGTGA	0.552000													16	47					0.0332995	0.033981	1	1	0
IGHA2	3494	broad.mit.edu	37	14	106054725	106054725	+	RNA	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:106054725G>T	ENST00000390539.2	-	0	7																											GGGGCTGGTCGGGGATGCTGG	0.642000													11	66					1.61879e-10	2.27605e-10	1	1	0
RYR1	6261	broad.mit.edu	37	19	38948812	38948812	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:38948812G>A	ENST00000355481.4	+	18	2178	c.2047G>A	c.(2047-2049)Gtg>Atg	p.V683M	RYR1_ENST00000359596.3_Missense_Mutation_p.V683M|RYR1_ENST00000360985.3_Missense_Mutation_p.V683M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	683	B30.2/SPRY 1.				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)	CCACTTGCGGGTGGGCTGGGC	0.647000													29	59					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180675675	180675675	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:180675675A>T	ENST00000357559.4	+	10	1333	c.949A>T	c.(949-951)Aga>Tga	p.R317*	FXR1_ENST00000480918.1_Nonsense_Mutation_p.R304*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R232*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R317*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R232*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R268*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	317					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGTTCGAGTGAGAATTGAAGG	0.318000													42	55					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086401	92086401	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:92086401A>T	ENST00000298047.6	+	1	1140	c.1123A>T	c.(1123-1125)Aga>Tga	p.R375*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.R375*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R225*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.R375*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	375	Cadherin 3.				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)				TGTCCCCATTAGATTTGAAAA	0.418000										TCGA Ovarian(4;0.039)			12	37					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839516	128839516	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:128839516C>T	ENST00000310343.9	-	22	5549	c.5550G>A	c.(5548-5550)ccG>ccA	p.P1850P	ARHGAP32_ENST00000392657.3_Silent_p.P1501P|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.P1501P	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1850	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATGGCTTCTCCGGCTGCGTGC	0.607000													10	74					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27550111	27550111	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:27550111C>A	ENST00000359541.2	-	18	2879	c.2450G>T	c.(2449-2451)cGc>cTc	p.R817L	GTF3C2_ENST00000264720.3_Missense_Mutation_p.R817L			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	817						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTGCATGCGCAGCATTGG	0.507000													5	39					1.23904e-05	1.46414e-05	1	1	0
FLG2	388698	broad.mit.edu	37	1	152327665	152327665	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:152327665C>T	ENST00000388718.5	-	3	2669	c.2597G>A	c.(2596-2598)gGa>gAa	p.G866E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	866	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGTCTGTCCCGAACTTGA	0.493000													176	544					0	0	1	0	0
FAM221A	340277	broad.mit.edu	37	7	23728907	23728907	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:23728907G>T	ENST00000344962.4	+	3	348	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	FAM221A_ENST00000409653.1_Missense_Mutation_p.D29Y|FAM221A_ENST00000409994.3_Missense_Mutation_p.D29Y|FAM221A_ENST00000409192.3_Missense_Mutation_p.D87Y	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	87																	ACATAAAACTGACTTGGAAGC	0.398000													24	71					8.24728e-16	1.2852e-15	1	1	0
GTF2I	2969	broad.mit.edu	37	7	74133245	74133245	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:74133245G>A	ENST00000324896.4	+	12	1317	c.928G>A	c.(928-930)Gag>Aag	p.E310K	AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000346152.4_Intron|GTF2I_ENST00000353920.4_Missense_Mutation_p.E290K|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Intron	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	310					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CCCTGAAGTTGAGGTGACTAT	0.318000													4	26					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202127	140202127	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:140202127G>T	ENST00000529859.1	+	1	767	c.767G>T	c.(766-768)aGt>aTt	p.S256I	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S256I|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S256I|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCACCAAGTGGGACATTA	0.358000													30	58					2.42023e-17	3.89319e-17	1	1	0
CSN2	1447	broad.mit.edu	37	4	70823394	70823394	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:70823394C>A	ENST00000353151.3	-	5	284	c.273G>T	c.(271-273)ctG>ctT	p.L91L		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	91					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GAGGGACAGGCAGCACCACAG	0.483000													16	114					1.99824e-07	2.55501e-07	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18868817	18868817	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:18868817C>T	ENST00000406451.3	+	18	2497	c.2347C>T	c.(2347-2349)Cac>Tac	p.H783Y	HDAC9_ENST00000441542.2_Missense_Mutation_p.H786Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.H742Y|HDAC9_ENST00000432645.2_Missense_Mutation_p.H783Y	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	783	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCTGGCCATCACGCTGAAGA	0.527000													15	104					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446863	10446863	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:10446863A>G	ENST00000326756.3	-	3	1528	c.1090T>C	c.(1090-1092)Ttt>Ctt	p.F364L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TCCAGCGGAAACAGTTTCAGA	0.423000													46	148					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71252771	71252771	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:71252771C>T	ENST00000395275.2	-	7	1163	c.775G>A	c.(775-777)Ggc>Agc	p.G259S	CALN1_ENST00000329008.5_Missense_Mutation_p.G217S|CALN1_ENST00000412588.1_Missense_Mutation_p.G259S|CALN1_ENST00000431984.1_Missense_Mutation_p.G217S|CALN1_ENST00000405452.2_Missense_Mutation_p.G217S|CALN1_ENST00000395276.2_Missense_Mutation_p.G217S	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	217						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TACTCCATGCCGCTCCGGAGT	0.592000													11	31					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85277694	85277694	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:85277694C>G	ENST00000450363.3	-	5	1158	c.700G>C	c.(700-702)Gct>Cct	p.A234P	SLC6A15_ENST00000266682.5_Missense_Mutation_p.A234P|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.A127P	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	234					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ACCCAGGCAGCCAACAAGCAG	0.443000													8	22					0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80577088	80577088	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:80577088C>T	ENST00000220876.7	+	5	901	c.519C>T	c.(517-519)ctC>ctT	p.L173L	STMN2_ENST00000518111.1_3'UTR|STMN2_ENST00000518491.1_Silent_p.L162L	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	173					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			ACAAGGAACTCCAGGTTGAAC	0.498000													10	34					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133792462	133792462	+	Splice_Site	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:133792462A>T	ENST00000321016.8	-	16	2512		c.e16+1		IGSF9B_ENST00000533871.2_Splice_Site			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B							integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ACAGACACCCACCTTTTTTGC	0.557000													4	28					0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23511514	23511514	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:23511514G>C	ENST00000408907.2	+	1	139	c.80G>C	c.(79-81)tGg>tCg	p.W27S		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	27					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GCTGGCGGCTGGGCTGTGCCC	0.637000													6	113					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76421479	76421479	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:76421479G>T	ENST00000389840.5	-	80	13282	c.13158C>A	c.(13156-13158)gaC>gaA	p.D4386E	DNAH17_ENST00000585328.1_Missense_Mutation_p.D4358E|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGCGGTCATGTCCTCTCGGT	0.567000													13	86					6.21321e-17	9.86727e-17	1	1	0
IGHV3-73	28409	broad.mit.edu	37	14	107211181	107211181	+	RNA	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:107211181G>C	ENST00000390636.2	-	0	187																											AGAGTTTCAGGGACCCCCCAG	0.622000													36	141					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409749	159409749	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:159409749C>A	ENST00000423932.3	+	1	238	c.201C>A	c.(199-201)caC>caA	p.H67Q	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	67					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TTCATCTTCACACACCCATGT	0.453000													46	119					1.15183e-24	1.97156e-24	1	1	0
ATP5E	514	broad.mit.edu	37	20	57605379	57605379	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:57605379C>T	ENST00000243997.3	-	2	268	c.138G>A	c.(136-138)gtG>gtA	p.V46V	ATP5E_ENST00000395659.1_Silent_p.V46V|ATP5E_ENST00000395663.1_Silent_p.V46V	NM_006886.3	NP_008817.1	P56381	ATP5E_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit	46					respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			TCTTTACTTTCACAATTTTTA	0.348000													8	55					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219563383	219563383	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:219563383G>T	ENST00000295709.3	+	26	3395	c.3116G>T	c.(3115-3117)cGc>cTc	p.R1039L	STK36_ENST00000440309.1_Missense_Mutation_p.R1039L|STK36_ENST00000392106.2_Missense_Mutation_p.R1018L|STK36_ENST00000392105.3_Missense_Mutation_p.R1018L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1039					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTTCTCACACGCCTGGCCCTC	0.537000													54	190					5.22555e-25	8.98555e-25	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141526889	141526889	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:141526889G>A	ENST00000389484.3	-	35	6622	c.5651C>T	c.(5650-5652)tCt>tTt	p.S1884F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1884					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATGAACAGAGTACATAAG	0.388000										TSP Lung(27;0.18)			19	51					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23876424	23876424	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:23876424A>G	ENST00000405093.3	-	3	79	c.9T>C	c.(7-9)gaT>gaC	p.D3D	MYH6_ENST00000356287.3_Silent_p.D3D	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	3	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCATCTGGGCATCGGTCATCT	0.617000													17	115					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411594	51411594	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:51411594T>C	ENST00000319760.6	-	1	854	c.802A>G	c.(802-804)Atg>Gtg	p.M268V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AACACAGTCATGAACTTATCA	0.368000													11	76					0	0	1	0	0
ZNF724P	440519	broad.mit.edu	37	19	23405513	23405513	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:23405513C>A	ENST00000418100.1	-	4	1651	c.1534G>T	c.(1534-1536)Ggc>Tgc	p.G512C																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						AAAGCTTTGCCACATTCTTTA	0.373000													17	28					1.99824e-07	2.55501e-07	1	1	0
PCSK7	9159	broad.mit.edu	37	11	117100470	117100470	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:117100470G>T	ENST00000320934.3	-	3	721	c.91C>A	c.(91-93)Ctg>Atg	p.L31M		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	31					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CAGGGAACCAGTAAGAAGAGC	0.652000			T	IGH@	MLCLS								14	37					7.93312e-07	9.75983e-07	1	1	0
TBX21	30009	broad.mit.edu	37	17	45822141	45822141	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:45822141C>A	ENST00000177694.1	+	6	1228	c.1017C>A	c.(1015-1017)atC>atA	p.I339I		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	339			I -> V (in dbSNP:rs12721471).		lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACACCAGCATCCCCTCCCCGC	0.527000													37	151					1.69901e-12	2.48701e-12	1	1	0
PROKR2	128674	broad.mit.edu	37	20	5294979	5294979	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:5294979T>G	ENST00000546004.1	-	2	283	c.37A>C	c.(37-39)Aac>Cac	p.N13H	PROKR2_ENST00000217270.3_Missense_Mutation_p.N13H			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	13						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGATTAAAGTTGGGTGTGAAA	0.512000										HNSCC(71;0.22)			16	67					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958141	143958141	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:143958141C>T	ENST00000292427.4	-	4	788	c.756G>A	c.(754-756)gtG>gtA	p.V252V	CYP11B1_ENST00000377675.3_Silent_p.V323V|CYP11B1_ENST00000517471.1_Silent_p.V252V	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	252					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCTCCTTCCACACCTTGGGGC	0.602000									Familial Hyperaldosteronism type I				4	38					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89653807	89653807	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:89653807G>T	ENST00000371953.3	+	2	1462	c.105G>T	c.(103-105)atG>atT	p.M35I		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	35	Phosphatase tensin-type.		M -> R (in CD).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.A34_G36del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTATTGCTATGGGATTTCCTG	0.284000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			18	51					2.48551e-13	3.7035e-13	1	1	0
TRPV6	55503	broad.mit.edu	37	7	142573593	142573593	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:142573593G>C	ENST00000359396.3	-	7	1072	c.827C>G	c.(826-828)aCt>aGt	p.T276S	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	276					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTCATAGAGAGTCGAGGTCAG	0.527000													22	101					0	0	1	0	0
FAM102A	399665	broad.mit.edu	37	9	130710649	130710649	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:130710649C>T	ENST00000373095.1	-	5	834	c.459G>A	c.(457-459)aaG>aaA	p.K153K	FAM102A_ENST00000373084.4_Silent_p.K11K|FAM102A_ENST00000300434.3_Intron	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	153										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GCACTCACGTCTTGAAGCAGG	0.617000													18	54					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542500	21542500	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:21542500A>T	ENST00000298694.4	+	3	738	c.611A>T	c.(610-612)gAa>gTa	p.E204V	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E204V			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	204					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTGCCCCCAGAACTGCCCTCT	0.617000													11	36					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679280	176679280	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:176679280G>T	ENST00000367662.3	+	11	4783	c.3619G>T	c.(3619-3621)Gtt>Ttt	p.V1207F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1207					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAGTGTCCTGTTTCCTTGGT	0.463000													42	81					1.8453e-21	3.12281e-21	1	1	0
GIMAP6	474344	broad.mit.edu	37	7	150324823	150324823	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:150324823C>A	ENST00000328902.5	-	3	1079	c.863G>T	c.(862-864)gGg>gTg	p.G288V	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	288							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCAGCCTTCCCCAGCAGGCA	0.587000													17	77					1.99824e-07	2.55501e-07	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41561050	41561050	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr21:41561050C>A	ENST00000400454.1	-	12	2949	c.2472G>T	c.(2470-2472)gaG>gaT	p.E824D		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	824	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGATTCGGTCCTCCTTCTCCC	0.517000													38	93					1.67305e-13	2.50789e-13	1	1	0
CHRNG	1146	broad.mit.edu	37	2	233406100	233406100	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:233406100G>A	ENST00000389494.3	+	5	388	c.367G>A	c.(367-369)Gag>Aag	p.E123K	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	123					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	p.E123K(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CGGTGTCTTCGAGGTGGCCCT	0.637000													13	123					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40690377	40690377	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:40690377G>C	ENST00000225927.2	+	3	653	c.552G>C	c.(550-552)ctG>ctC	p.L184L	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	184						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTTGGGCCTGACCCAGGCAG	0.527000													16	196					0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282496	71282496	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:71282496C>T	ENST00000335793.3	-	2	538	c.144G>A	c.(142-144)ggG>ggA	p.G48G	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.G48G			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	48					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			AGGAGGTGTCCCCAAAGGCGT	0.647000													7	58					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238727007	238727007	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:238727007G>A	ENST00000316997.4	+	3	1580	c.1448G>A	c.(1447-1449)aGg>aAg	p.R483K	RBM44_ENST00000409864.1_Missense_Mutation_p.R483K|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	482							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ACAACCAGCAGGGCAACAAGT	0.388000													5	54					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133906086	133906086	+	Silent	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:133906086C>G	ENST00000220616.4	+	11	2953	c.2913C>G	c.(2911-2913)ggC>ggG	p.G971G	TG_ENST00000377869.1_Silent_p.G971G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	971	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGACCTCGGCCTTCCTCCGC	0.592000													30	75					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105641938	105641938	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:105641938A>T	ENST00000542731.1	+	7	852	c.744A>T	c.(742-744)gaA>gaT	p.E248D	CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.E160D|CDHR3_ENST00000317716.9_Missense_Mutation_p.E248D|CDHR3_ENST00000541203.1_Missense_Mutation_p.N149I			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	248	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TCCTGGAGGAACTGAGTCCAG	0.517000													37	103					0	0	1	0	0
TRAV7	28686	broad.mit.edu	37	14	22251630	22251630	+	RNA	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:22251630C>G	ENST00000390429.3	+	0	247																											GAAAGGAAGACTAAATGCTAC	0.428000													11	49					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52905960	52905960	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr15:52905960T>A	ENST00000261844.7	-	3	263	c.111A>T	c.(109-111)gtA>gtT	p.V37V	FAM214A_ENST00000546305.2_Silent_p.V44V	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	37																	TTCGACCTTTTACAGAACATT	0.428000													4	31					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695399	109695399	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:109695399A>G	ENST00000465301.2	+	3	1800	c.1554A>G	c.(1552-1554)acA>acG	p.T518T	RGAG1_ENST00000540313.1_Silent_p.T518T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	518										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TTACGGCAACAGCCTCTGAAA	0.512000													42	91					0	0	1	0	0
FAM71C	196472	broad.mit.edu	37	12	100042361	100042361	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:100042361C>G	ENST00000324341.1	+	1	831	c.409C>G	c.(409-411)Cag>Gag	p.Q137E	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	137										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CGTAAAAAAACAGCTCCACCT	0.468000													25	68					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887787	25887787	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:25887787G>C	ENST00000376351.3	+	11	3591	c.3232G>C	c.(3232-3234)Ggc>Cgc	p.G1078R	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1078						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGAGCCAAGGCCAGTCCAT	0.493000													24	109					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086904	9086904	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:9086904C>T	ENST00000397910.4	-	1	5114	c.4911G>A	c.(4909-4911)ggG>ggA	p.G1637G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1637	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						TACTACTGCTCCCTGTTGTTG	0.498000													46	88					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123785874	123785874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:123785874G>T	ENST00000422452.2	-	8	1532	c.1469C>A	c.(1468-1470)tCg>tAg	p.S490*	TENM1_ENST00000371130.3_Nonsense_Mutation_p.S490*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTCCTGAAGCGAAGTTAAGAT	0.428000													27	45					1.08971e-26	1.90445e-26	1	1	0
EPC1	80314	broad.mit.edu	37	10	32594782	32594782	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:32594782T>A	ENST00000319778.6	-	2	533	c.231A>T	c.(229-231)ccA>ccT	p.P77P	EPC1_ENST00000375110.2_Silent_p.P27P|EPC1_ENST00000263062.8_Silent_p.P77P	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	77					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTTCTGCCTCTGGGACCGGTA	0.403000													17	43					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3779573	3779573	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:3779573G>A	ENST00000310132.6	-	10	1283	c.885C>T	c.(883-885)atC>atT	p.I295I	MATK_ENST00000395040.2_Silent_p.I254I|MATK_ENST00000585778.1_Silent_p.I295I|MATK_ENST00000395045.2_Silent_p.I296I	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	295	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGTGCAGGATCACGCCCA	0.711000													7	11					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44336399	44336399	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:44336399C>A	ENST00000315087.7	-	1	733	c.73G>T	c.(73-75)Gcc>Tcc	p.A25S	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A25S|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A25S	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	25					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AAGGCAAAGGCGCAGATGAAG	0.612000													6	56					0.217242	0.218117	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128840	147128840	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:147128840C>T	ENST00000282928.4	+	1	1670	c.941C>T	c.(940-942)gCg>gTg	p.A314V		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	314					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A314G(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AAGGTCTTCGCGCGCTCCGAG	0.562000													31	44					0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107445	121107445	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:121107445G>T	ENST00000295228.3	+	2	1265	c.1219G>T	c.(1219-1221)Gcc>Tcc	p.A407S		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	407					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GTGCGGCTGCGCCTGACAGTG	0.637000													10	25					1.76689e-08	2.34749e-08	1	1	0
KIAA0196	9897	broad.mit.edu	37	8	126071510	126071510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:126071510C>A	ENST00000318410.7	-	14	2067	c.1718G>T	c.(1717-1719)aGg>aTg	p.R573M	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R425M	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	573					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGGATTTACCCTTATGCTTTC	0.408000													12	71					1.5842e-08	2.11604e-08	1	1	0
LAMC1	3915	broad.mit.edu	37	1	183093904	183093904	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:183093904G>C	ENST00000258341.4	+	14	2797	c.2540G>C	c.(2539-2541)gGa>gCa	p.G847A		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	847	Laminin EGF-like 8.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCTTGACGGGAGAATGCCTG	0.517000													15	47					0	0	1	0	0
TMEM62	80021	broad.mit.edu	37	15	43446871	43446871	+	Splice_Site	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr15:43446871G>A	ENST00000260403.2	+	9	1303	c.1022_splice	c.e9-1	p.V342_splice		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	342						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TCATTTTAGAGTCTTGGCCTT	0.378000													6	34					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956473	143956473	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:143956473C>G	ENST00000292427.4	-	8	1330	c.1298G>C	c.(1297-1299)gGc>gCc	p.G433A	CYP11B1_ENST00000377675.3_Missense_Mutation_p.G504A|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	433					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCTGCCGGAGCCCCTGATGTC	0.632000									Familial Hyperaldosteronism type I				27	90					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139379	3139379	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:3139379C>A	ENST00000252463.2	-	5	1978	c.1891G>T	c.(1891-1893)Ggc>Tgc	p.G631C	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.G292C|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.G549C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	631					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGCCGCTCGCCCGTGTGGCTG	0.706000													8	38					5.18039e-06	6.19989e-06	1	1	0
ZNF263	10127	broad.mit.edu	37	16	3339416	3339416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:3339416G>A	ENST00000574253.1	+	2	720	c.411G>A	c.(409-411)tgG>tgA	p.W137*	ZNF263_ENST00000538765.1_5'UTR|ZNF263_ENST00000219069.5_Missense_Mutation_p.E304K			O14978	ZN263_HUMAN	zinc finger protein 263	137					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TGAGAACCTGGAAGGTGTTCC	0.532000													30	150					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76657190	76657190	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:76657190T>C	ENST00000369950.3	-	14	2074	c.1885A>G	c.(1885-1887)Aga>Gga	p.R629G	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	629	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTCCCGTTTCTGAAGTTAAGT	0.403000													15	40					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879681	3879681	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:3879681G>T	ENST00000315677.3	-	4	983	c.388C>A	c.(388-390)Cac>Aac	p.H130N	DLGAP1_ENST00000515196.2_Missense_Mutation_p.H130N|DLGAP1_ENST00000581527.1_Missense_Mutation_p.H130N|DLGAP1_ENST00000584874.1_Missense_Mutation_p.H130N|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	130					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCGCTGCGGTGCTCCACGGCC	0.677000													31	90					3.99451e-17	6.39806e-17	1	1	0
HTR3B	9177	broad.mit.edu	37	11	113815415	113815415	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:113815415G>C	ENST00000260191.2	+	8	1285	c.1028G>C	c.(1027-1029)cGa>cCa	p.R343P	HTR3B_ENST00000537778.1_Missense_Mutation_p.R332P	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	343					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TTGTGCCTTCGAGGGGACACC	0.552000													35	92					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28884908	28884908	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:28884908C>G	ENST00000375664.3	+	7	1331	c.722C>G	c.(721-723)tCt>tGt	p.S241C	WAC_ENST00000428935.1_Missense_Mutation_p.S241C|WAC_ENST00000375646.1_Intron|WAC_ENST00000354911.4_Missense_Mutation_p.S286C|WAC_ENST00000347934.4_Intron			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	286					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AATGGAGCATCTACTTTATCA	0.423000													29	85					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150730964	150730964	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:150730964T>C	ENST00000358849.4	+	2	461	c.368T>C	c.(367-369)tTt>tCt	p.F123S	ABCB8_ENST00000477092.1_Missense_Mutation_p.F123S|ABCB8_ENST00000356058.4_Missense_Mutation_p.F160S|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000297504.6_Missense_Mutation_p.F140S|ABCB8_ENST00000498578.1_Missense_Mutation_p.F123S|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000477719.1_Missense_Mutation_p.F123S	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	140						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTGGCAGTTTCTGCACCCC	0.627000													10	50					0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70123383	70123383	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:70123383T>C	ENST00000388768.2	-	15	1945	c.1619A>G	c.(1618-1620)gAg>gGg	p.E540G	RUFY2_ENST00000602465.1_Missense_Mutation_p.E505G|RUFY2_ENST00000265865.3_Missense_Mutation_p.E95G	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	554						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AAGAGCTTGCTCTTGTTCATG	0.328000													5	14					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520738	52520738	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:52520738C>A	ENST00000216286.5	-	4	1068	c.1069_splice	c.e4+1	p.E357_splice	NID2_ENST00000541773.1_Splice_Site_p.E304_splice	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	357						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GAGATCCTACCCTCTAAAGGC	0.488000													13	84					1	1	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176526271	176526271	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:176526271G>T	ENST00000367662.3	+	2	1977	c.813G>T	c.(811-813)cgG>cgT	p.R271R	PAPPA2_ENST00000367661.3_Silent_p.R271R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	271					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCGGGAGCGGCTGCTGCTGC	0.567000													16	44					4.7546e-09	6.41957e-09	1	1	0
OR2J2	26707	broad.mit.edu	37	6	29141788	29141788	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:29141788G>C	ENST00000377167.2	+	1	478	c.376G>C	c.(376-378)Gct>Cct	p.A126P		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCGTTATGTAGCTGTGTGTAG	0.453000													71	270					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92200438	92200438	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:92200438G>T	ENST00000212355.4	-	5	928	c.463C>A	c.(463-465)Cat>Aat	p.H155N	TGFBR3_ENST00000525962.1_Missense_Mutation_p.H155N|TGFBR3_ENST00000370399.2_Missense_Mutation_p.H155N|TGFBR3_ENST00000468996.2_5'UTR	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	155					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCATTTCCATGGGGGAAGTTC	0.418000													51	202					9.22156e-22	1.56411e-21	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134073223	134073223	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:134073223G>T	ENST00000264360.4	+	1	2754	c.1928G>T	c.(1927-1929)cGa>cTa	p.R643L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	643	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACAGCACGCCGAGTCCCGGCC	0.667000													16	42					1.5739e-10	2.21709e-10	1	1	0
CADM3	57863	broad.mit.edu	37	1	159163811	159163811	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:159163811T>A	ENST00000368125.4	+	5	829	c.672T>A	c.(670-672)tcT>tcA	p.S224S	CADM3_ENST00000368124.4_Silent_p.S258S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	224	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GATCCACCTCTCAACGCATTG	0.507000													6	81					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52054021	52054021	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:52054021C>A	ENST00000340057.1	+	3	444	c.399C>A	c.(397-399)ttC>ttA	p.F133L		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	133					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCAACTCCTTCCGGCTGGAGA	0.597000													12	66					0.00010058	0.000113991	1	1	0
ZEB1	6935	broad.mit.edu	37	10	31815707	31815707	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:31815707A>T	ENST00000446923.2	+	9	3233	c.2842A>T	c.(2842-2844)Aaa>Taa	p.K948*	ZEB1_ENST00000361642.5_Nonsense_Mutation_p.K965*|ZEB1_ENST00000320985.10_Nonsense_Mutation_p.K964*|ZEB1_ENST00000542815.3_Nonsense_Mutation_p.K897*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.K944*	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	964					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TCAATGTGACAAATGTGGAAA	0.413000													12	54					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561848	142561848	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:142561848G>T	ENST00000392957.2	+	7	1077	c.290G>T	c.(289-291)cGg>cTg	p.R97L	EPHB6_ENST00000442129.1_Missense_Mutation_p.R97L|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	97						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTTGTGGAGCGGCGCGGGGCC	0.657000													25	168					6.36457e-07	7.90814e-07	1	1	0
ZMAT4	79698	broad.mit.edu	37	8	40554910	40554910	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:40554910G>T	ENST00000297737.6	-	4	349	c.203C>A	c.(202-204)gCc>gAc	p.A68D	ZMAT4_ENST00000315769.7_Missense_Mutation_p.A68D	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	68						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CACCATGTCGGCATCACTTCC	0.478000													16	26					6.31663e-08	8.30376e-08	1	1	0
PTGFRN	5738	broad.mit.edu	37	1	117492063	117492063	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:117492063G>T	ENST00000393203.2	+	4	1229	c.1082G>T	c.(1081-1083)cGg>cTg	p.R361L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	361	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTACTGGTTCGGGATGTTAGC	0.562000													29	91					1.39806e-14	2.15174e-14	1	1	0
NRP2	8828	broad.mit.edu	37	2	206617582	206617582	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:206617582G>A	ENST00000360409.3	+	12	2718	c.1927G>A	c.(1927-1929)Gga>Aga	p.G643R	NRP2_ENST00000272849.3_Missense_Mutation_p.G643R|NRP2_ENST00000357785.5_Missense_Mutation_p.G643R|NRP2_ENST00000540841.1_Missense_Mutation_p.G643R|NRP2_ENST00000540178.1_Missense_Mutation_p.G643R|NRP2_ENST00000357118.4_Missense_Mutation_p.G643R|NRP2_ENST00000412873.2_Missense_Mutation_p.G643R	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	643	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCTCCCTTCGGGATTCAATTG	0.488000													11	36					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616355	92616355	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:92616355T>A	ENST00000298047.6	+	23	12750	c.12733T>A	c.(12733-12735)Tcc>Acc	p.S4245T	FAT3_ENST00000533797.1_Missense_Mutation_p.S580T|FAT3_ENST00000409404.2_Missense_Mutation_p.S4245T|FAT3_ENST00000525166.1_Missense_Mutation_p.S4095T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4245					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)				CCAGAGTGACTCCAGGAGCAA	0.677000										TCGA Ovarian(4;0.039)			42	179					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100348950	100348950	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:100348950C>A	ENST00000437033.2	-	5	1047	c.544G>T	c.(544-546)Gct>Tct	p.A182S	ADH7_ENST00000476959.1_Missense_Mutation_p.A202S|ADH7_ENST00000482593.1_Missense_Mutation_p.A125S|ADH7_ENST00000209665.4_Missense_Mutation_p.A194S			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	194					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TTAACAGCAGCGCCATATCCA	0.408000													6	45					1.06961e-07	1.39143e-07	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151155508	151155508	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:151155508G>A	ENST00000282466.3	-	6	6840	c.6841C>T	c.(6841-6843)Ctc>Ttc	p.L2281F	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2281	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGGCTGTGAGGAAAATATTG	0.433000													54	64					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264493	61264493	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:61264493G>T	ENST00000344731.5	+	8	1174	c.1072G>T	c.(1072-1074)Gcc>Tcc	p.A358S	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A306S	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	358					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.A358T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TGTCACATCCGCCCCAGGTCA	0.512000													10	70					1.58986e-06	1.92742e-06	1	1	0
GREM2	64388	broad.mit.edu	37	1	240656527	240656527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:240656527G>T	ENST00000318160.4	-	2	515	c.249C>A	c.(247-249)agC>agA	p.S83R		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	83	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			AGCCCTCCTCGCTCACCGTCT	0.647000													9	102					3.86212e-05	4.45126e-05	1	1	0
LRRFIP1	9208	broad.mit.edu	37	2	238626448	238626448	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:238626448G>T	ENST00000308482.9	+	4	314	c.245G>T	c.(244-246)tGg>tTg	p.W82L	LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000392000.4_Intron	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	51					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		ATCGAGCAGTGGATGGTAGGC	0.358000													25	130					3.80469e-20	6.36669e-20	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8340382	8340382	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:8340382G>T	ENST00000381196.4	-	39	5757	c.5214C>A	c.(5212-5214)acC>acA	p.T1738T	PTPRD_ENST00000397617.3_Silent_p.T1331T|PTPRD_ENST00000358503.5_Silent_p.T1716T|PTPRD_ENST00000540109.1_Silent_p.T1738T|PTPRD_ENST00000360074.4_Silent_p.T1725T|PTPRD_ENST00000486161.1_Silent_p.T1331T|PTPRD_ENST00000537002.1_Silent_p.T1328T|PTPRD_ENST00000356435.5_Silent_p.T1738T|PTPRD_ENST00000355233.5_Silent_p.T1332T|PTPRD_ENST00000397606.3_Silent_p.T1331T|PTPRD_ENST00000397611.3_Silent_p.T1328T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1738	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCACAACTATGGTGGAATTGT	0.498000										TSP Lung(15;0.13)			7	36					0.00198382	0.00210781	1	1	0
NDUFAF5	79133	broad.mit.edu	37	20	13782241	13782241	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:13782241G>T	ENST00000378106.5	+	7	748	c.629G>T	c.(628-630)gGa>gTa	p.G210V	NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Missense_Mutation_p.G182V	NM_024120.4	NP_077025.2	Q5TEU4	CT007_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	210					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										GAAAGGGAAGGAGGATTTTCT	0.448000													18	50					3.41278e-10	4.73611e-10	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34276467	34276467	+	Splice_Site	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:34276467T>A	ENST00000373381.4	-	10	1501		c.e10-2		CSMD2_ENST00000338325.1_Splice_Site	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACATGCGGGCTGCAGAGGAGA	0.532000													11	85					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281931	152281931	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:152281931C>G	ENST00000368799.1	-	3	5466	c.5431G>C	c.(5431-5433)Gac>Cac	p.D1811H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1811	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGAATGGTGTCCTGACCCTCT	0.597000									Ichthyosis				38	708					0	0	1	0	0
SPRED1	161742	broad.mit.edu	37	15	38632064	38632064	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr15:38632064A>G	ENST00000299084.4	+	5	1410	c.550A>G	c.(550-552)Aga>Gga	p.R184G		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	184					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TCTGAATGCCAGAAGAGTCTA	0.373000									Legius syndrome				14	34					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68200218	68200218	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:68200218T>C	ENST00000262215.3	-	7	1388	c.999A>G	c.(997-999)gtA>gtG	p.V333V		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	333					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCATTTCTTCTACAATGTTCT	0.323000													30	111					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155250852	155250852	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:155250852G>T	ENST00000357232.3	-	11	2375	c.2376C>A	c.(2374-2376)atC>atA	p.I792I	DCHS2_ENST00000339452.1_Silent_p.I1247I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	792	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCACCCAATTGATTAACTCTC	0.552000													8	49					0.000442599	0.000484012	1	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24878202	24878202	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:24878202T>C	ENST00000396432.2	-	25	4666	c.4180A>G	c.(4180-4182)Aag>Gag	p.K1394E	ARHGAP21_ENST00000320481.6_3'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1393					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CAATTTACCTTAGATTTTGTT	0.318000													18	49					0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103345895	103345895	+	Missense_Mutation	SNP	C	C	A	rs141683033	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:103345895C>A	ENST00000370162.3	-	3	628	c.134G>T	c.(133-135)cGg>cTg	p.R45L	POLL_ENST00000299206.4_Missense_Mutation_p.R45L|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_5'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.R45L|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370172.1_5'UTR|POLL_ENST00000339310.3_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	45	BRCT.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AACATGGGCCCGAAGGGAGCT	0.537000								DNA polymerases (catalytic subunits)					7	43					0.000673444	0.000732175	1	1	0
DDX41	51428	broad.mit.edu	37	5	176943349	176943349	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:176943349C>T	ENST00000507955.1	-	3	761	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	80					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GACTGAGGGCCTAGCGGGATG	0.612000													45	67					0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83790720	83790720	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr15:83790720T>A	ENST00000322019.9	+	5	720	c.446T>A	c.(445-447)aTg>aAg	p.M149K	TM6SF1_ENST00000565774.1_Missense_Mutation_p.M149K|TM6SF1_ENST00000379386.4_Missense_Mutation_p.M152K|TM6SF1_ENST00000379390.6_Missense_Mutation_p.M149K			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	149						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TCTATTATTATGAGTGTTGTT	0.318000													23	82					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509209	106509209	+	Silent	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:106509209C>G	ENST00000359195.3	+	2	1513	c.1203C>G	c.(1201-1203)ccC>ccG	p.P401P	PIK3CG_ENST00000440650.2_Silent_p.P401P|PIK3CG_ENST00000496166.1_Silent_p.P401P	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	401					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GAACCAGCCCCAAACCCTTCA	0.502000													8	75					0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15349879	15349879	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:15349879C>A	ENST00000333590.4	-	2	258	c.174G>T	c.(172-174)caG>caT	p.Q58H	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	58					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CAATCAGGCACTGAGAGAGCT	0.428000													22	36					4.35082e-09	5.88501e-09	1	1	0
RYR2	6262	broad.mit.edu	37	1	237494244	237494244	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:237494244C>A	ENST00000360064.6	+	4	228	c.228C>A	c.(226-228)tgC>tgA	p.C76*	RYR2_ENST00000542537.1_Missense_Mutation_p.Q63K|RYR2_ENST00000366574.2_Missense_Mutation_p.Q79K			Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	0					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGGGCGCTGCAGGAGATGCT	0.502000													19	65					0.000229342	0.000256808	1	1	0
C15orf59	388135	broad.mit.edu	37	15	74043389	74043389	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr15:74043389C>T	ENST00000569673.1	-	2	1287	c.83G>A	c.(82-84)cGc>cAc	p.R28H	C15orf59_ENST00000379822.4_Missense_Mutation_p.R28H			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	28										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CATCTTCATGCGCTGTCGAAT	0.642000													14	90					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498822	142498822	+	RNA	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:142498822C>A	ENST00000466254.1	+	0	98																											TGTGCCTGGCCACAGGCTTCT	0.607000													7	90					0.0381472	0.0388219	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36321981	36321981	+	Missense_Mutation	SNP	G	G	A	rs143145248		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:36321981G>A	ENST00000378910.5	-	27	3454	c.3455C>T	c.(3454-3456)aCg>aTg	p.T1152M	NPHS1_ENST00000353632.6_Missense_Mutation_p.T1112M	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1152					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCTCCTGCGTCGGGGGCAG	0.587000													47	87					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140317	3140317	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:3140317C>A	ENST00000252463.2	-	5	1040	c.953G>T	c.(952-954)gGg>gTg	p.G318V	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.G236V	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	318					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GAAGGAGCGCCCAGCCGGGTG	0.672000													7	61					8.12818e-05	9.23994e-05	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49671294	49671294	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:49671294T>C	ENST00000561648.1	-	4	1822	c.1769A>G	c.(1768-1770)aAc>aGc	p.N590S	ZNF423_ENST00000562871.1_Missense_Mutation_p.N530S|ZNF423_ENST00000535559.1_Missense_Mutation_p.N473S|ZNF423_ENST00000567169.1_Missense_Mutation_p.N473S|ZNF423_ENST00000563137.2_Missense_Mutation_p.N530S|ZNF423_ENST00000562520.1_Missense_Mutation_p.N530S|ZNF423_ENST00000262383.2_Missense_Mutation_p.N590S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	590					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CAGTGGAATGTTCTTGTGGTT	0.572000													21	78					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55401191	55401191	+	Missense_Mutation	SNP	G	G	A	rs149025092		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:55401191G>A	ENST00000355524.3	+	5	836	c.826G>A	c.(826-828)Gga>Aga	p.G276R	FCAR_ENST00000391724.3_Missense_Mutation_p.G242R|FCAR_ENST00000345937.4_Missense_Mutation_p.G180R|FCAR_ENST00000391726.3_Missense_Mutation_p.G168R|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000359272.4_Missense_Mutation_p.G264R|FCAR_ENST00000353758.4_Missense_Mutation_p.G167R|FCAR_ENST00000391725.3_Missense_Mutation_p.G254R|FCAR_ENST00000482092.2_3'UTR	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	276					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GTGTCAGCCAGGATTGACCTT	0.537000													30	118					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313064	54313064	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:54313064A>G	ENST00000324134.6	-	3	2017	c.1849T>C	c.(1849-1851)Ttg>Ctg	p.L617L	NLRP12_ENST00000535162.1_Silent_p.L617L|NLRP12_ENST00000391773.1_Silent_p.L617L|NLRP12_ENST00000391772.1_Silent_p.L617L|NLRP12_ENST00000391775.3_Silent_p.L617L|NLRP12_ENST00000354278.3_Silent_p.L617L|NLRP12_ENST00000351894.4_Silent_p.L617L|NLRP12_ENST00000345770.5_Silent_p.L617L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	617					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ATCTCGTACAAGCAGCTGAAG	0.567000													29	56					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87407258	87407258	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:87407258C>T	ENST00000338056.3	+	9	1405	c.994C>T	c.(994-996)Ctt>Ttt	p.L332F	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.L315F|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.L315F	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	332										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AATTGTGGAGCTTCAAGATCA	0.353000													19	53					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43034773	43034773	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:43034773G>T	ENST00000316099.3	+	2	280	c.191G>T	c.(190-192)gGg>gTg	p.G64V	HNF4A_ENST00000415691.1_Missense_Mutation_p.G64V|HNF4A_ENST00000457232.1_Missense_Mutation_p.G42V|HNF4A_ENST00000443598.2_Missense_Mutation_p.G64V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	64					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCATCTGCGGGGACCGGGCC	0.642000													31	109					1.75199e-13	2.62097e-13	1	1	0
TAF1C	9013	broad.mit.edu	37	16	84212974	84212974	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:84212974C>A	ENST00000567759.1	-	14	2365	c.2183G>T	c.(2182-2184)cGa>cTa	p.R728L	TAF1C_ENST00000378541.4_Missense_Mutation_p.R728L|TAF1C_ENST00000566732.1_Missense_Mutation_p.R702L|TAF1C_ENST00000570117.1_Missense_Mutation_p.R396L|TAF1C_ENST00000541676.1_Missense_Mutation_p.R635L|TAF1C_ENST00000341690.6_Missense_Mutation_p.R634L	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	728					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGCAGCCCCTCGGCCTGCCCA	0.706000													15	17					1.52009e-12	2.23385e-12	1	1	0
TAS2R14	50840	broad.mit.edu	37	12	11091224	11091224	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:11091224G>A	ENST00000537503.1	-	1	638	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	195					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						AACATTGCCAGGGACAAAGTA	0.423000													24	43					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236187502	236187502	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:236187502C>A	ENST00000264187.6	-	9	2078	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	NID1_ENST00000366595.3_Missense_Mutation_p.D666Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	666	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGAAGAGCATCAGGGGAGCCT	0.547000													8	52					0.000274275	0.000302147	1	1	0
CACNG3	10368	broad.mit.edu	37	16	24372682	24372682	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:24372682A>T	ENST00000005284.3	+	4	1648	c.446A>T	c.(445-447)aAc>aTc	p.N149I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	149					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGGTTAAGCAACATCATTGGC	0.413000													32	124					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356834	42356834	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:42356834G>T	ENST00000554171.1	+	5	3438	c.1006G>T	c.(1006-1008)Gtg>Ttg	p.V336L	LRFN5_ENST00000298119.4_Missense_Mutation_p.V336L|LRFN5_ENST00000554120.1_Missense_Mutation_p.V336L			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	336	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGATCTCTGGTGTATGATAA	0.453000										HNSCC(30;0.082)			27	95					7.53681e-25	1.29301e-24	1	1	0
CCNB3	85417	broad.mit.edu	37	X	50094639	50094639	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:50094639G>T	ENST00000376042.1	+	13	4423	c.4125G>T	c.(4123-4125)ttG>ttT	p.L1375F	CCNB3_ENST00000376038.1_Missense_Mutation_p.L271F|CCNB3_ENST00000276014.7_Missense_Mutation_p.L1375F|CCNB3_ENST00000348603.2_Missense_Mutation_p.L271F			Q8WWL7	CCNB3_HUMAN	cyclin B3	1375					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCCCTGCCTTGGATATGTTGA	0.483000													10	21					0.00829132	0.0086498	1	1	0
PEX19	5824	broad.mit.edu	37	1	160249886	160249886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:160249886C>A	ENST00000368072.5	-	6	766	c.745G>T	c.(745-747)Gag>Tag	p.E249*	DCAF8_ENST00000556710.1_Nonsense_Mutation_p.E102*|PEX19_ENST00000440949.3_Nonsense_Mutation_p.E159*|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCACCATCTCAAAACGAGCC	0.493000													105	227					7.73176e-47	1.40714e-46	1	1	0
KIAA1324	57535	broad.mit.edu	37	1	109743477	109743477	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:109743477C>A	ENST00000369939.3	+	21	3111	c.2928C>A	c.(2926-2928)acC>acA	p.T976T	KIAA1324_ENST00000529753.1_Silent_p.T889T|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	976					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TCATCTTTACCAGCAAGAAGT	0.542000											OREG0013630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	65					0.014758	0.0151843	1	1	0
CPZ	8532	broad.mit.edu	37	4	8605802	8605802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:8605802G>T	ENST00000382480.2	+	4	985	c.185G>T	c.(184-186)cGg>cTg	p.R62L	CPZ_ENST00000360986.4_Missense_Mutation_p.R199L|CPZ_ENST00000315782.6_Missense_Mutation_p.R188L|CPZ_ENST00000429646.2_5'UTR	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	199	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGCTGAGGCGGACGGCCTCC	0.701000													3	10					0.004672	0.00489448	1	1	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													5	68					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14769948	14769948	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:14769948C>T	ENST00000253697.3	+	12	2145	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	C3orf20_ENST00000412910.1_Silent_p.L443L|C3orf20_ENST00000435614.1_Silent_p.L443L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	565						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GTTAACAGGTCTGTTTACCAT	0.493000													13	48					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242035504	242035504	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:242035504A>T	ENST00000366548.3	+	12	2031	c.1438A>T	c.(1438-1440)Aga>Tga	p.R480*	EXO1_ENST00000518483.1_Nonsense_Mutation_p.R480*|EXO1_ENST00000348581.5_Nonsense_Mutation_p.R480*	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	480	Interaction with MLH1.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACCTAGGACGAGAAATAAATT	0.398000								Editing and processing nucleases					28	119					0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132938854	132938854	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:132938854A>T	ENST00000275191.2	-	1	463	c.356T>A	c.(355-357)cTa>cAa	p.L119Q	TAAR2_ENST00000367931.1_Missense_Mutation_p.L164Q|TAAR2_ENST00000537809.1_Missense_Mutation_p.L119Q	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	164						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		ACATAGAAGTAGCAATCTTTT	0.408000													7	81					0	0	1	0	0
BEX2	84707	broad.mit.edu	37	X	102564882	102564882	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:102564882G>T	ENST00000536889.1	-	3	476	c.119C>A	c.(118-120)gCg>gAg	p.A40E	BEX2_ENST00000372677.3_Missense_Mutation_p.A8E|BEX2_ENST00000372674.1_Missense_Mutation_p.A8E	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	8					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						ATTGTTTAACGCTCGTTCCTC	0.463000													11	17					0.0809354	0.082032	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768313	77768313	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:77768313G>A	ENST00000521891.2	+	10	9604	c.9156G>A	c.(9154-9156)ccG>ccA	p.P3052P	ZFHX4_ENST00000455469.2_Silent_p.P3007P|ZFHX4_ENST00000050961.6_Silent_p.P3007P|ZFHX4_ENST00000518282.1_Silent_p.P3026P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3007	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P3036P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTGGCTCCGACCACGGTTC	0.507000										HNSCC(33;0.089)			10	109					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104071263	104071263	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:104071263C>A	ENST00000388887.2	+	25	2883	c.2679C>A	c.(2677-2679)caC>caA	p.H893Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	893	EGF-like 8.				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						CGGGCACCCACACCTGCGTGT	0.542000													45	70					9.84934e-19	1.60159e-18	1	1	0
CRTAM	56253	broad.mit.edu	37	11	122738173	122738173	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:122738173A>G	ENST00000227348.4	+	8	921	c.874A>G	c.(874-876)Acg>Gcg	p.T292A	CRTAM_ENST00000533709.1_Missense_Mutation_p.T93A	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	292					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CCTGCTGCTCACGCTGGTGTC	0.413000													6	43					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113650925	113650925	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:113650925C>A	ENST00000297405.5	-	21	3770	c.3526_splice	c.e21+1	p.E1176_splice	CSMD3_ENST00000343508.3_Splice_Site_p.E1136_splice|CSMD3_ENST00000455883.2_Splice_Site_p.E1072_splice|CSMD3_ENST00000352409.3_Splice_Site_p.E1176_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1176	CUB 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTTTCTCACCAGAGAATGTT	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	32					0.000274275	0.000302147	1	1	0
C8orf74	203076	broad.mit.edu	37	8	10557970	10557970	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:10557970G>T	ENST00000304519.5	+	4	903	c.874G>T	c.(874-876)Gca>Tca	p.A292S	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	292										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GAAAGCGAAGGCAAGGAAGTA	0.622000													6	7					5.9392e-07	7.4042e-07	1	1	0
IFNB1	3456	broad.mit.edu	37	9	21077402	21077402	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:21077402G>T	ENST00000380232.2	-	1	541	c.467C>A	c.(466-468)gCc>gAc	p.A156D		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	156					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	GTACTCCTTGGCCTTCAGGTA	0.433000													40	134					2.59497e-14	3.9613e-14	1	1	0
FZD7	8324	broad.mit.edu	37	2	202900716	202900716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:202900716G>T	ENST00000286201.1	+	1	1407	c.1346G>T	c.(1345-1347)cGt>cTt	p.R449L		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	449					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCCCTCTTCCGTATCCGCACC	0.612000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	95					0.000219431	0.000246079	1	1	0
DEFA4	1669	broad.mit.edu	37	8	6793589	6793589	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:6793589G>C	ENST00000297435.2	-	3	371	c.247C>G	c.(247-249)Ctc>Gtc	p.L83V		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	83					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCACCAATGAGGCAGTTCCCA	0.512000													10	50					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096328	51096328	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:51096328T>A	ENST00000395542.2	-	12	2895	c.2711A>T	c.(2710-2712)cAc>cTc	p.H904L	COBL_ENST00000265136.7_Missense_Mutation_p.H822L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	822										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCCCTCATGGTGGGCAGACTT	0.642000													17	42					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26885753	26885753	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:26885753C>T	ENST00000231021.4	-	11	2024	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	618					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGTAGAATCGCAACGAGAGCT	0.512000													5	41					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105365611	105365611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:105365611C>A	ENST00000369774.4	-	14	1648	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	SH3PXD2A_ENST00000538130.1_Nonsense_Mutation_p.E293*|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Nonsense_Mutation_p.E325*|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Nonsense_Mutation_p.E430*			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	458	SH3 3.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GACTGGAATTCGGCAATGGTG	0.542000											OREG0020500	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	44					1.01871e-10	1.44045e-10	1	1	0
MATN4	8785	broad.mit.edu	37	20	43926606	43926606	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:43926606C>G	ENST00000537548.1	-	9	1775	c.1531G>C	c.(1531-1533)Ggc>Cgc	p.G511R	MATN4_ENST00000360607.5_Missense_Mutation_p.G470R|MATN4_ENST00000342716.4_Missense_Mutation_p.G511R|MATN4_ENST00000372751.4_Missense_Mutation_p.G362R|MATN4_ENST00000372754.1_Missense_Mutation_p.G552R|MATN4_ENST00000372756.1_Missense_Mutation_p.G511R|MATN4_ENST00000372753.1_Missense_Mutation_p.G362R|MATN4_ENST00000353917.5_Missense_Mutation_p.G429R			O95460	MATN4_HUMAN	matrilin 4	552	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTCATGGTGCCGAAGTCCGGG	0.652000													14	37					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026674	36026674	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:36026674G>T	ENST00000373243.2	+	3	1305	c.922G>T	c.(922-924)Gcc>Tcc	p.A308S	NCDN_ENST00000373253.3_Missense_Mutation_p.A291S|NCDN_ENST00000356090.4_Missense_Mutation_p.A308S	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	308					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAGTTCCTGGCCCTGCTGGT	0.672000													5	22					0.014758	0.0151843	1	1	0
MRPS5	64969	broad.mit.edu	37	2	95753185	95753185	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:95753185C>A	ENST00000272418.2	-	12	1418	c.1210G>T	c.(1210-1212)Gtc>Ttc	p.V404F		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	404					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCCAGTTTGACGTCTGGAACC	0.567000													13	52					1.49906e-05	1.76582e-05	1	1	0
RYR2	6262	broad.mit.edu	37	1	237880535	237880535	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:237880535G>A	ENST00000366574.2	+	72	10678	c.10361G>A	c.(10360-10362)cGc>cAc	p.R3454H	RYR2_ENST00000360064.6_Missense_Mutation_p.R3452H|RYR2_ENST00000542537.1_Missense_Mutation_p.R3438H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3454					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAATGAAGCGCAAAGGAGAT	0.488000													12	20					0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67355077	67355077	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:67355077G>A	ENST00000396623.3	+	3	173	c.142G>A	c.(142-144)Gag>Aag	p.E48K	ADHFE1_ENST00000496501.1_Intron|ADHFE1_ENST00000379385.4_Missense_Mutation_p.E48K|ADHFE1_ENST00000415254.1_5'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	48					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TTATGCCTTTGAGGTATATTC	0.274000													18	65					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322549	55322549	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:55322549G>T	ENST00000314644.2	+	1	767	c.767G>T	c.(766-768)aGt>aTt	p.S256I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTCATCAACAGTGGGTTTATC	0.473000										HNSCC(20;0.049)			8	60					1.06961e-07	1.39143e-07	1	1	0
PRLR	5618	broad.mit.edu	37	5	35066174	35066174	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:35066174A>C	ENST00000382002.5	-	10	1312	c.886T>G	c.(886-888)Ttg>Gtg	p.L296V	PRLR_ENST00000342362.5_Missense_Mutation_p.L195V|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.L296V|PRLR_ENST00000231423.3_Missense_Mutation_p.L296V|PRLR_ENST00000511486.1_Missense_Mutation_p.L195V	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	296					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGCATCCCAAGGCACTCAGT	0.438000													6	82					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082377	152082377	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:152082377G>C	ENST00000368804.1	-	2	3315	c.3316C>G	c.(3316-3318)Cgg>Ggg	p.R1106G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1106	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTCTCCCGCTCCTGGCGC	0.617000													42	193					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57648337	57648337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:57648337G>T	ENST00000269834.1	-	4	530	c.145C>A	c.(145-147)Caa>Aaa	p.Q49K		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTCCCCTTGTCCTGTGATG	0.498000													27	67					2.4375e-19	3.99835e-19	1	1	0
VAC14	55697	broad.mit.edu	37	16	70778352	70778352	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:70778352C>A	ENST00000261776.5	-	13	1762	c.1502G>T	c.(1501-1503)gGc>gTc	p.G501V		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	501					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCCGGCTCTGCCAGGGGTGGG	0.647000													7	47					1.08611e-07	1.40799e-07	1	1	0
PGLYRP3	114771	broad.mit.edu	37	1	153279556	153279556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:153279556G>T	ENST00000290722.1	-	2	295	c.243C>A	c.(241-243)tgC>tgA	p.C81*		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	81					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACGCCACGTCGCACCAGCCTA	0.582000													4	28					0.217242	0.218117	1	1	0
ANO2	57101	broad.mit.edu	37	12	5853336	5853336	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:5853336G>T	ENST00000327087.8	-	12	1397	c.1326C>A	c.(1324-1326)ttC>ttA	p.F442L	ANO2_ENST00000546188.1_Missense_Mutation_p.F443L|ANO2_ENST00000356134.5_Missense_Mutation_p.F443L			Q9NQ90	ANO2_HUMAN	anoctamin 2	447						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACAGAGCCATGAAGATAGAGA	0.542000													15	41					3.41278e-10	4.73611e-10	1	1	0
ATP8B2	57198	broad.mit.edu	37	1	154313336	154313336	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:154313336G>T	ENST00000368489.3	+	13	1140	c.1140G>T	c.(1138-1140)gaG>gaT	p.E380D	ATP8B2_ENST00000341822.2_Missense_Mutation_p.E366D|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	366					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAGTGTGGAGGTCATCCGTC	0.607000													39	91					9.14704e-12	1.3234e-11	1	1	0
PNPLA1	285848	broad.mit.edu	37	6	36262158	36262158	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:36262158G>T	ENST00000394571.2	+	4	696	c.696G>T	c.(694-696)ttG>ttT	p.L232F	PNPLA1_ENST00000312917.5_Missense_Mutation_p.L146F|PNPLA1_ENST00000388715.3_Missense_Mutation_p.L137F	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	232					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCCACGCATTGTTCCCCCCGG	0.622000													24	57					5.45727e-16	8.522e-16	1	1	0
DACT1	51339	broad.mit.edu	37	14	59112433	59112433	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:59112433T>A	ENST00000395153.3	+	4	1128	c.981T>A	c.(979-981)gcT>gcA	p.A327A	DACT1_ENST00000541264.2_Silent_p.A83A|DACT1_ENST00000335867.4_Silent_p.A364A|DACT1_ENST00000395151.3_Silent_p.A83A|DACT1_ENST00000556859.1_Silent_p.A83A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	364					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCGTGAACGCTGACCCCACGA	0.517000													19	43					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950710	38950710	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:38950710C>G	ENST00000357387.3	-	31	3270	c.3240G>C	c.(3238-3240)aaG>aaC	p.K1080N	RICTOR_ENST00000296782.5_Missense_Mutation_p.K1080N	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1080					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AATTTTTATCCTTTATGGGTC	0.383000													22	559					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72341016	72341016	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:72341016G>T	ENST00000389916.4	+	7	837	c.699G>T	c.(697-699)cgG>cgT	p.R233R		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	233	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGCGCAGCCGGGTCAAGAACA	0.692000													12	34					2.27111e-07	2.89402e-07	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56606832	56606832	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:56606832G>T	ENST00000336078.4	+	6	3460	c.2684G>T	c.(2683-2685)gGc>gTc	p.G895V	ZNF532_ENST00000591083.1_Missense_Mutation_p.G895V|ZNF532_ENST00000589288.1_Missense_Mutation_p.G895V|ZNF532_ENST00000591230.1_Missense_Mutation_p.G895V|ZNF532_ENST00000591808.1_Missense_Mutation_p.G895V	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	895					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAGCATCCTGGCATCAAGATA	0.428000													19	77					1.96292e-10	2.74956e-10	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212426632	212426632	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:212426632G>T	ENST00000342788.4	-	20	2793	c.2483C>A	c.(2482-2484)gCt>gAt	p.A828D	ERBB4_ENST00000436443.1_Missense_Mutation_p.A828D|ERBB4_ENST00000402597.1_Missense_Mutation_p.A818D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	828	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACTTACCTTAGCTATCTGGAC	0.393000										TSP Lung(8;0.080)			13	87					0.00136819	0.00146201	1	1	0
CD101	9398	broad.mit.edu	37	1	117568211	117568211	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:117568211G>A	ENST00000256652.4	+	8	2567	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	CD101_ENST00000369470.1_Missense_Mutation_p.E837K|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	837	Ig-like C2-type 7.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGCAGCCTGGAGAGTGTAGG	0.478000													9	80					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037302	75037302	+	Silent	SNP	C	C	T	rs4366277		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:75037302C>T	ENST00000326665.5	-	14	4310	c.4092G>A	c.(4090-4092)gaG>gaA	p.E1364E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1364	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCGGCTGTCTCCGAACCTG	0.517000													46	120					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589451	136589451	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:136589451G>A	ENST00000531224.1	-	10	2498	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	BCLAF1_ENST00000527759.1_Missense_Mutation_p.S747F|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S749F|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S576F|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S747F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S747F	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	749	Poly-Ser.				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAAGATCGAGAATGATCTTG	0.343000													6	64					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130564	34130564	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr15:34130564G>A	ENST00000389232.4	+	89	12453	c.12383G>A	c.(12382-12384)gGt>gAt	p.G4128D	RYR3_ENST00000415757.3_Missense_Mutation_p.G4123D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4128					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAATTGCGGGTGAAGAGGAA	0.493000													40	82					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247463969	247463969	+	Missense_Mutation	SNP	C	C	A	rs144745098		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:247463969C>A	ENST00000294753.4	-	9	2080	c.1616G>T	c.(1615-1617)cGg>cTg	p.R539L	ZNF496_ENST00000366498.2_Missense_Mutation_p.R575L|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	539					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCTGCGGTGCCGAGCCAGGTG	0.612000													13	119					4.36969e-10	6.0305e-10	1	1	0
ATP5L	10632	broad.mit.edu	37	11	118279722	118279722	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:118279722T>A	ENST00000300688.3	+	3	733	c.221T>A	c.(220-222)gTg>gAg	p.V74E	ATP5L_ENST00000524422.1_Intron|ATP5L_ENST00000529770.1_3'UTR	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G	74					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		CAGGAAGCTGTGCTGAATGGT	0.333000													5	69					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117375441	117375441	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:117375441C>T	ENST00000160373.3	-	15	3661	c.3570G>A	c.(3568-3570)aaG>aaA	p.K1190K		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1190										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGATTTTCTTCTTACTGGGAG	0.338000													8	161					0	0	1	0	0
CRH	1392	broad.mit.edu	37	8	67089250	67089250	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:67089250C>G	ENST00000276571.3	-	2	909	c.463G>C	c.(463-465)Gag>Cag	p.E155Q		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	155					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	GGAGGCTCCTCGGACCGCCTT	0.672000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	27					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58560058	58560058	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:58560058C>T	ENST00000348616.4	+	7	1011	c.711C>T	c.(709-711)acC>acT	p.T237T	CDH26_ENST00000244047.5_Silent_p.T237T	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	237	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCACATAGACCGCTCCTCAGT	0.433000													8	40					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402858	124402858	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:124402858G>A	ENST00000368909.3	+	53	7292	c.7186G>A	c.(7186-7188)Gtc>Atc	p.V2396I	DMBT1_ENST00000330163.4_Missense_Mutation_p.V1768I|DMBT1_ENST00000359586.6_Missense_Mutation_p.V1116I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1768I|DMBT1_ENST00000368955.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000338354.3_Missense_Mutation_p.V2396I	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2396					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTGGACGTCGTCCTGGGTCC	0.647000													18	32					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541528	55541528	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:55541528C>A	ENST00000361760.1	+	1	615	c.615C>A	c.(613-615)gcC>gcA	p.A205A		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTATTATTGCCATATTCAATG	0.383000													25	154					0.000586117	0.000640023	1	1	0
PLCB1	23236	broad.mit.edu	37	20	8609055	8609055	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:8609055G>T	ENST00000378641.3	+	4	836	c.361G>T	c.(361-363)Gct>Tct	p.A121S	PLCB1_ENST00000378637.2_Missense_Mutation_p.A121S|PLCB1_ENST00000338037.6_Missense_Mutation_p.A121S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	121					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAATCTCGTGGCTTTCCAAGA	0.473000													24	90					7.38237e-10	1.01136e-09	1	1	0
OR9G1	390174	broad.mit.edu	37	11	56468325	56468325	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:56468325C>A	ENST00000312153.1	+	1	462	c.462C>A	c.(460-462)aaC>aaA	p.N154K		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GCTTTATTAACTCTTCAATCA	0.458000													12	199					0.000978159	0.00105275	1	1	0
LIFR	3977	broad.mit.edu	37	5	38481840	38481840	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:38481840T>A	ENST00000263409.4	-	20	3313	c.3151A>T	c.(3151-3153)Aac>Tac	p.N1051Y	LIFR_ENST00000453190.2_Missense_Mutation_p.N1051Y	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1051					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCTCACTGTTGCTGTCTATG	0.418000			T	PLAG1	salivary adenoma								139	126					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62812728	62812728	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:62812728C>A	ENST00000512091.1	+	15	3059	c.2312C>A	c.(2311-2313)aCa>aAa	p.T771K	LPHN3_ENST00000504896.1_Missense_Mutation_p.T771K|LPHN3_ENST00000509896.1_Missense_Mutation_p.T839K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000514996.1_Missense_Mutation_p.T771K|LPHN3_ENST00000506700.1_Missense_Mutation_p.T771K|LPHN3_ENST00000508946.1_Missense_Mutation_p.T771K|LPHN3_ENST00000514591.1_Missense_Mutation_p.T771K|LPHN3_ENST00000507164.1_Missense_Mutation_p.T839K|LPHN3_ENST00000514157.1_Missense_Mutation_p.T771K|LPHN3_ENST00000507625.1_Missense_Mutation_p.T839K|LPHN3_ENST00000511324.1_Missense_Mutation_p.T839K|LPHN3_ENST00000506746.1_Missense_Mutation_p.T839K|LPHN3_ENST00000506720.1_Missense_Mutation_p.T839K|LPHN3_ENST00000545650.1_Missense_Mutation_p.T771K|LPHN3_ENST00000508693.1_Missense_Mutation_p.T839K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	758					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCTTTGTCCACAAATCATTCT	0.403000													20	200					2.39187e-15	3.71187e-15	1	1	0
RASSF2	9770	broad.mit.edu	37	20	4770300	4770300	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:4770300C>A	ENST00000379400.3	-	8	776	c.581G>T	c.(580-582)cGc>cTc	p.R194L	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R194L	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	194	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding	p.R194L(2)|p.R194H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTGTTGATGCGGACGTTGGT	0.547000													11	58					3.07112e-06	3.68731e-06	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31283197	31283197	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:31283197C>G	ENST00000544665.3	+	7	659	c.588C>G	c.(586-588)ttC>ttG	p.F196L	ITGAM_ENST00000287497.8_Missense_Mutation_p.F196L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	196	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGAAGAATTCCGGATTCACT	0.557000													16	45					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354208	10354208	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:10354208C>A	ENST00000255381.2	-	29	3980	c.3870G>T	c.(3868-3870)gaG>gaT	p.E1290D	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1290					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTCGTGAAAACTCACCTGTGG	0.353000													38	73					1.59361e-14	2.43767e-14	1	1	0
FBN2	2201	broad.mit.edu	37	5	127800434	127800434	+	Missense_Mutation	SNP	C	C	A	rs148971572	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:127800434C>A	ENST00000508053.1	-	12	1783	c.809G>T	c.(808-810)cGc>cTc	p.R270L	FBN2_ENST00000508989.1_Missense_Mutation_p.R237L|FBN2_ENST00000262464.4_Missense_Mutation_p.R270L			P35556	FBN2_HUMAN	fibrillin 2	270					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCTCCAGTGCGGATGTTGGG	0.592000													9	57					7.48243e-07	9.22052e-07	1	1	0
TICAM1	148022	broad.mit.edu	37	19	4817343	4817343	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:4817343G>C	ENST00000248244.5	-	2	1276	c.1047C>G	c.(1045-1047)tgC>tgG	p.C349W		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	349	Pro-rich.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GAGTAGGTGGGCACGGCTTGG	0.557000													21	40					0	0	1	0	0
TMEM89	440955	broad.mit.edu	37	3	48658349	48658349	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:48658349T>A	ENST00000330862.3	-	2	504	c.406A>T	c.(406-408)Atc>Ttc	p.I136F		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	136						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGGCCTTCGATGTGGACCAGG	0.607000													36	82					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632712	32632712	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:32632712C>A	ENST00000242310.4	-	1	2955	c.2866G>T	c.(2866-2868)Gcc>Tcc	p.A956S		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	956					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCAATGAAGGCCCTTGTGGTG	0.478000													18	132					4.75885e-15	7.35458e-15	1	1	0
AE000661.37	0	broad.mit.edu	37	14	22934742	22934742	+	RNA	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:22934742A>T	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA																							TTTATGTCCTAACTGCTTTGT	0.388000													13	61					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144859821	144859821	+	Missense_Mutation	SNP	G	G	A	rs71923781		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:144859821G>A	ENST00000369359.4	-	41	6709	c.6671C>T	c.(6670-6672)tCc>tTc	p.S2224F	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S2088F|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S2088F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2173F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1982F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2088					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)		GTTAATGGAGGAGGGGCTGAG	0.572000			T	PDGFRB	MPD								12	92					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599525	179599525	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:179599525C>T	ENST00000589042.1	-	51	15350	c.15126G>A	c.(15124-15126)acG>acA	p.T5042T	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.T4725T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T3798T|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4725	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTACATCCGTAATATCAA	0.373000													12	102					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116729004	116729004	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:116729004T>C	ENST00000375300.1	-	20	3038	c.3033A>G	c.(3031-3033)caA>caG	p.Q1011Q	SIK3_ENST00000542607.1_Silent_p.Q893Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Silent_p.Q792Q|SIK3_ENST00000375288.1_Silent_p.Q288Q|SIK3_ENST00000292055.4_Silent_p.Q953Q|SIK3_ENST00000446921.2_Silent_p.Q951Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	953						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATTCTtgctgttgctgctgtt	0.592000													5	45					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76174925	76174925	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:76174925G>T	ENST00000529032.1	+	6	632	c.632G>T	c.(631-633)aGc>aTc	p.S211I	C11orf30_ENST00000533248.1_Missense_Mutation_p.S225I|C11orf30_ENST00000524490.1_Missense_Mutation_p.S212I|C11orf30_ENST00000334736.3_Missense_Mutation_p.S211I|C11orf30_ENST00000343878.3_Missense_Mutation_p.S211I|C11orf30_ENST00000525038.1_Missense_Mutation_p.S226I|C11orf30_ENST00000524767.1_Missense_Mutation_p.S226I|C11orf30_ENST00000525919.1_Missense_Mutation_p.S212I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	211	Interaction with BRCA2.|Poly-Ser.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AACTCTTCCAGCTCCTCTCCT	0.448000													73	118					1.92865e-43	3.50152e-43	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62288392	62288392	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:62288392T>C	ENST00000378024.4	-	5	13771	c.13497A>G	c.(13495-13497)gaA>gaG	p.E4499E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4499					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)				TGAGCTTCCCTTCAGGACCTT	0.443000													13	105					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651010	90651010	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:90651010G>T	ENST00000282146.4	+	2	1331	c.890G>T	c.(889-891)gGg>gTg	p.G297V		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	297						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ATGGACAGCGGGTGCTGCCCG	0.532000													17	91					6.49762e-13	9.58623e-13	1	1	0
ABCB8	11194	broad.mit.edu	37	7	150730965	150730965	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:150730965T>C	ENST00000358849.4	+	2	462	c.369T>C	c.(367-369)ttT>ttC	p.F123F	ABCB8_ENST00000477092.1_Silent_p.F123F|ABCB8_ENST00000356058.4_Silent_p.F160F|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000297504.6_Silent_p.F140F|ABCB8_ENST00000498578.1_Silent_p.F123F|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000477719.1_Silent_p.F123F	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	140						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTGGCAGTTTCTGCACCCCC	0.622000													10	50					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92523266	92523266	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:92523266A>T	ENST00000298047.6	+	7	4510	c.4493A>T	c.(4492-4494)cAt>cTt	p.H1498L	FAT3_ENST00000409404.2_Missense_Mutation_p.H1498L|FAT3_ENST00000525166.1_Missense_Mutation_p.H1348L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1498	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)				TACACTGTTCATAGCAGCATC	0.512000										TCGA Ovarian(4;0.039)			42	171					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6978258	6978258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:6978258G>T	ENST00000389658.3	-	43	6220	c.6127C>A	c.(6127-6129)Ctg>Atg	p.L2043M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2043	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCCTGGACAGGCTGGCAGAT	0.597000													14	108					9.31168e-06	1.11087e-05	1	1	0
MGAM	8972	broad.mit.edu	37	7	141794611	141794611	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:141794611A>T	ENST00000475668.2	+	63	7460	c.7406A>T	c.(7405-7407)cAg>cTg	p.Q2469L	MGAM_ENST00000549489.2_Missense_Mutation_p.Q1573L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1573					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGCTGGATGCAGCTGGGGGCC	0.498000													5	35					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17883113	17883113	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:17883113C>A	ENST00000448223.2	-	20	2475	c.2206G>T	c.(2206-2208)Gta>Tta	p.V736L	SMC6_ENST00000381272.4_Missense_Mutation_p.V762L|SMC6_ENST00000351948.4_Missense_Mutation_p.V736L|SMC6_ENST00000402989.1_Missense_Mutation_p.V736L	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	736					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCAATATCTACAGACTGGTGT	0.269000													7	9					2.17888e-05	2.55455e-05	1	1	0
TGFB1	7040	broad.mit.edu	37	19	41847918	41847918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:41847918G>A	ENST00000221930.5	-	5	1596	c.730C>T	c.(730-732)Cga>Tga	p.R244*		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	244					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	AGGTCACCTCGGCGGCCGGTA	0.617000													7	28					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110883936	110883936	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:110883936G>T	ENST00000369784.3	+	1	2809	c.1909G>T	c.(1909-1911)Gac>Tac	p.D637Y	RBM15_ENST00000602849.1_Missense_Mutation_p.D637Y|RBM15_ENST00000487146.2_Missense_Mutation_p.D637Y	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	637	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGCAGCAGAGACCAGCCTAG	0.592000			T	MKL1	acute megakaryocytic leukemia								11	32					1.58986e-06	1.92742e-06	1	1	0
WNT10A	80326	broad.mit.edu	37	2	219754997	219754997	+	Missense_Mutation	SNP	G	G	T	rs143424659		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:219754997G>T	ENST00000258411.3	+	3	1301	c.668G>T	c.(667-669)cGc>cTc	p.R223L		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	223					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCGGGGAGCGCTTTTCTAAG	0.647000													9	31					7.48243e-07	9.22052e-07	1	1	0
PCCB	5096	broad.mit.edu	37	3	135969287	135969287	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:135969287G>A	ENST00000471595.1	+	1	88	c.70G>A	c.(70-72)Gcg>Acg	p.A24T	PCCB_ENST00000490504.1_Missense_Mutation_p.A24T|PCCB_ENST00000483687.1_Missense_Mutation_p.A24T|PCCB_ENST00000468777.1_Missense_Mutation_p.A24T|PCCB_ENST00000482086.1_Missense_Mutation_p.A24T|PCCB_ENST00000251654.4_Missense_Mutation_p.A24T|PCCB_ENST00000466072.1_Missense_Mutation_p.A24T|PCCB_ENST00000462637.1_Missense_Mutation_p.A24T|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000469217.1_Missense_Mutation_p.A24T|PCCB_ENST00000478469.1_Missense_Mutation_p.A24T			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	24					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TCTCCGCGCCGCGGTCCGCAG	0.692000											OREG0015823	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	8					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92224265	92224265	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:92224265G>T	ENST00000212355.4	-	4	754	c.289C>A	c.(289-291)Cac>Aac	p.H97N	TGFBR3_ENST00000525962.1_Missense_Mutation_p.H97N|TGFBR3_ENST00000370399.2_Missense_Mutation_p.H97N|TGFBR3_ENST00000468996.2_5'UTR	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	97					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ACAGACTTGTGGTGGATGTGG	0.507000													13	128					7.03913e-09	9.4699e-09	1	1	0
GFI1	2672	broad.mit.edu	37	1	92948935	92948935	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:92948935C>G	ENST00000370332.1	-	2	428	c.110G>C	c.(109-111)cGa>cCa	p.R37P	GFI1_ENST00000427103.1_Missense_Mutation_p.R37P|GFI1_ENST00000294702.5_Missense_Mutation_p.R37P|GFI1_ENST00000483490.1_5'UTR	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	37					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CGCACCTGCTCGGCTAGGCGC	0.647000													7	21					0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27071170	27071170	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr21:27071170G>A	ENST00000480456.1	+	5	1126	c.576G>A	c.(574-576)atG>atA	p.M192I	JAM2_ENST00000312957.5_Missense_Mutation_p.M192I|JAM2_ENST00000400532.1_Missense_Mutation_p.M192I|JAM2_ENST00000425221.2_Missense_Mutation_p.M156I	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	192	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CATACACAATGAATACAAAAA	0.378000													18	81					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796746	109796746	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:109796746G>C	ENST00000297459.3	-	2	760	c.582C>G	c.(580-582)atC>atG	p.I194M	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	194					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CGATGTAAGAGATGATCACGA	0.552000													24	60					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108810978	108810978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:108810978C>T	ENST00000322536.3	+	18	2585	c.2456C>T	c.(2455-2457)aCc>aTc	p.T819I	DDX10_ENST00000534221.1_3'UTR	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	819							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ACCAGTGATACCAAGAAGAAG	0.393000			T	NUP98	AML*								5	68					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72432731	72432731	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:72432731A>G	ENST00000425175.1	+	24	3227	c.3110A>G	c.(3109-3111)cAc>cGc	p.H1037R	SLC4A4_ENST00000264485.5_Silent_p.S1069S|SLC4A4_ENST00000340595.3_Silent_p.S1025S|SLC4A4_ENST00000351898.6_Silent_p.S985S	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	70						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAGAAAGATCACCAACATTCC	0.338000													11	48					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128480720	128480720	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:128480720C>A	ENST00000325888.8	+	10	1929	c.1668C>A	c.(1666-1668)atC>atA	p.I556I	FLNC_ENST00000346177.6_Silent_p.I556I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	556					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCTACGCCATCCCTCGCAGGT	0.637000													23	90					2.27731e-05	2.6616e-05	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248308625	248308625	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:248308625T>C	ENST00000366476.1	+	1	176	c.176T>C	c.(175-177)aTg>aCg	p.M59T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CACACCCCCATGTACTTCCTC	0.512000													55	545					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51135968	51135968	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:51135968C>A	ENST00000338916.4	-	2	882	c.249G>T	c.(247-249)tgG>tgT	p.W83C	SYT3_ENST00000600079.1_Missense_Mutation_p.W83C|SYT3_ENST00000544769.1_Missense_Mutation_p.W83C|SYT3_ENST00000593901.1_Missense_Mutation_p.W83C	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	83						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCTTGTCCCGCCAGGGCACCC	0.652000													12	63					0.010729	0.0111308	1	1	0
PTGS2	5743	broad.mit.edu	37	1	186645994	186645994	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:186645994G>T	ENST00000367468.5	-	6	830	c.694C>A	c.(694-696)Ctt>Att	p.L232I	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	232					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TCCTTGAAAAGGCGCAGTTTA	0.318000													59	202					4.45325e-31	7.87479e-31	1	1	0
GPR35	2859	broad.mit.edu	37	2	241569824	241569824	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:241569824G>T	ENST00000319838.5	+	6	1397	c.455G>T	c.(454-456)tGg>tTg	p.W152L	GPR35_ENST00000407714.1_Missense_Mutation_p.W152L|GPR35_ENST00000403859.1_Missense_Mutation_p.W152L|GPR35_ENST00000430267.1_Missense_Mutation_p.W152L|GPR35_ENST00000438013.2_Missense_Mutation_p.W183L	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	152						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GTGGCTCGCTGGCTCCTGGGG	0.701000													6	44					0.00198382	0.00210781	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107575875	107575875	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:107575875T>C	ENST00000393561.1	-	25	4429	c.4245A>G	c.(4243-4245)tcA>tcG	p.S1415S	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000222399.6_Silent_p.S1391S			P07942	LAMB1_HUMAN	laminin, beta 1	1391	Domain alpha.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCAGCGGCTGAAAGGTCTA	0.438000													12	215					0	0	1	0	0
ADM2	79924	broad.mit.edu	37	22	50921163	50921163	+	Missense_Mutation	SNP	G	G	A	rs72438078		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr22:50921163G>A	ENST00000395738.2	+	2	570	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	ADM2_ENST00000395737.1_Missense_Mutation_p.R93Q|ADM2_ENST00000362068.2_Missense_Mutation_p.E10K	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	93					positive regulation of angiogenesis	extracellular region	hormone activity	p.H95_R100delHSGPRR(1)		breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGGGCCCCCGAAGACACTCG	0.692000													6	12					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66467859	66467859	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:66467859C>A	ENST00000273854.3	-	3	1010	c.410G>T	c.(409-411)tGc>tTc	p.C137F	EPHA5_ENST00000432638.2_Missense_Mutation_p.C137F|EPHA5_ENST00000354839.4_Missense_Mutation_p.C137F|EPHA5_ENST00000511294.1_Missense_Mutation_p.C137F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	137					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAGGCTGTTGCAGTCCCGCAG	0.428000										TSP Lung(17;0.13)			20	83					2.98393e-07	3.79589e-07	1	1	0
LINC00521	256369	broad.mit.edu	37	14	94464474	94464474	+	RNA	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:94464474G>C	ENST00000444118.1	+	0	154					NR_024182.1																						GCGGTGGTGAGGTGATGGCAG	0.582000													3	25					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35881308	35881308	+	Silent	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:35881308A>T	ENST00000314607.6	+	28	4382	c.4302A>T	c.(4300-4302)tcA>tcT	p.S1434S	ZMYM4_ENST00000373297.2_Silent_p.S1345S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1434					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCAGGAGTCAGAACCAGGTA	0.413000													19	40					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42930740	42930740	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:42930740C>G	ENST00000426333.2	-	25	2782	c.2485G>C	c.(2485-2487)Gag>Cag	p.E829Q	EFTUD2_ENST00000402521.3_Missense_Mutation_p.E794Q|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E819Q|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E829Q	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	829						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)				TAGTAAGGCTCCATCAGACGA	0.587000													30	96					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8999176	8999176	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:8999176C>G	ENST00000344836.4	-	14	1639	c.1441G>C	c.(1441-1443)Gat>Cat	p.D481H	USP7_ENST00000381886.4_Missense_Mutation_p.D465H|USP7_ENST00000535863.1_Missense_Mutation_p.D382H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	481					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACGTCGTCATCAAATTTACAC	0.458000											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	97					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118560423	118560423	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:118560423A>G	ENST00000311085.8	+	37	8314	c.8234A>G	c.(8233-8235)aAt>aGt	p.N2745S	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.N2766S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2745										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAAGCCATTAATAATGTTAGA	0.244000													10	52					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101755671	101755671	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr13:101755671C>A	ENST00000251127.6	-	26	2990	c.2909G>T	c.(2908-2910)tGt>tTt	p.C970F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	970						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGCATCCAACAAAGAAATAT	0.453000													18	47					7.07596e-05	8.10539e-05	1	1	0
WDR63	126820	broad.mit.edu	37	1	85592345	85592345	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:85592345C>A	ENST00000294664.6	+	20	2444	c.2264C>A	c.(2263-2265)tCt>tAt	p.S755Y	WDR63_ENST00000326813.8_Missense_Mutation_p.S716Y|WDR63_ENST00000370596.1_Missense_Mutation_p.S716Y	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	755										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCAGCCCAGTCTCAAAACATT	0.433000													17	91					3.32936e-07	4.20669e-07	1	1	0
ZNF572	137209	broad.mit.edu	37	8	125988735	125988735	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:125988735G>T	ENST00000319286.5	+	3	379	c.225G>T	c.(223-225)tgG>tgT	p.W75C		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CACTGACATGGGTTCAAGATG	0.388000										HNSCC(60;0.17)			22	70					1.37657e-19	2.273e-19	1	1	0
PIGQ	9091	broad.mit.edu	37	16	624190	624190	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:624190C>G	ENST00000321878.5	+	2	275	c.116C>G	c.(115-117)cCc>cGc	p.P39R	PIGQ_ENST00000409527.2_Missense_Mutation_p.P39R|PIGQ_ENST00000470411.2_Missense_Mutation_p.P39R|PIGQ_ENST00000026218.5_Missense_Mutation_p.P39R	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	39					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTGCACTTTCCCTTCATCCCC	0.701000													7	21					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133070955	133070955	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:133070955C>T	ENST00000326499.6	-	6	1374	c.1250G>A	c.(1249-1251)cGg>cAg	p.R417Q	VNN2_ENST00000525270.1_Missense_Mutation_p.R364Q|VNN2_ENST00000525289.1_Missense_Mutation_p.R196Q	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	417					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TTCTACTGGCCGTCCACAAGT	0.408000													6	66					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927203	53927203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:53927203C>A	ENST00000371445.3	+	2	690	c.635C>A	c.(634-636)tCc>tAc	p.S212Y	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	212	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCTGGTGGCTCCAGCATGCAC	0.652000													16	120					1.15088e-07	1.48424e-07	1	1	0
DPY19L4	286148	broad.mit.edu	37	8	95802050	95802050	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:95802050C>T	ENST00000414645.2	+	19	2183	c.2084C>T	c.(2083-2085)tCt>tTt	p.S695F		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	695						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTAACTATTCTCCATATGTG	0.313000													26	113					0	0	1	0	0
MEOX1	4222	broad.mit.edu	37	17	41738734	41738734	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:41738734C>A	ENST00000318579.4	-	1	588	c.169G>T	c.(169-171)Gca>Tca	p.A57S	MEOX1_ENST00000393661.2_5'UTR|MEOX1_ENST00000329168.3_Missense_Mutation_p.A57S|MEOX1_ENST00000549132.1_Silent_p.R27R	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	57						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GGGTACGCTGCCGTCGCTGTC	0.642000													23	45					6.21321e-17	9.86727e-17	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57181839	57181839	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:57181839C>T	ENST00000504228.1	+	6	2276	c.2171C>T	c.(2170-2172)gCc>gTc	p.A724V	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A724V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A717V			Q6ZU35	K1211_HUMAN	KIAA1211	724										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ATTATGCCTGCCTGGCAGAAA	0.557000													13	74					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54041979	54041979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:54041979G>T	ENST00000373980.4	+	14	2029	c.1612G>T	c.(1612-1614)Gag>Tag	p.E538*	PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Nonsense_Mutation_p.E241*|PRKG1_ENST00000373985.1_Nonsense_Mutation_p.E511*|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Nonsense_Mutation_p.E523*	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	523	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TGGGACTCCAGAGTATGTAGC	0.418000													30	44					3.1745e-13	4.72072e-13	1	1	0
C9orf72	203228	broad.mit.edu	37	9	27562475	27562475	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:27562475C>A	ENST00000380003.3	-	4	568		c.e4-1		C9orf72_ENST00000379997.3_Splice_Site|C9orf72_ENST00000488117.1_Splice_Site	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72											breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TACTCTGACCCTGCACAATAA	0.333000													9	33					0.000442599	0.000484012	1	1	0
IGHM	3507	broad.mit.edu	37	14	106321254	106321254	+	RNA	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:106321254C>T	ENST00000390559.2	-	0	734																											GGTCTGTGACCAGGCAGGTCA	0.567000													46	107					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79408995	79408995	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:79408995C>G	ENST00000307745.7	+	9	620	c.620C>G	c.(619-621)tCc>tGc	p.S207C																								GAGGCAGGCTCCCTGCAGAAG	0.711000													5	64					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150432716	150432716	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:150432716T>G	ENST00000401000.4	+	8	1321	c.1256T>G	c.(1255-1257)tTg>tGg	p.L419W	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.L419W|RPRD2_ENST00000369068.4_Missense_Mutation_p.L445W			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	445							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCATTGGCTTTGCCAAACCTG	0.473000													9	26					0	0	1	0	0
C19orf59	199675	broad.mit.edu	37	19	7742570	7742570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:7742570C>T	ENST00000333598.3	+	2	596	c.142C>T	c.(142-144)Cag>Tag	p.Q48*	C19orf59_ENST00000597445.1_Intron	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	48						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CTTCAAAAATCAGGACCATGC	0.577000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	54					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294243	29294243	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:29294243T>A	ENST00000331664.5	-	1	2884	c.2885A>T	c.(2884-2886)cAc>cTc	p.H962L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	962					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGGGCCGGAGTGGTGCCAGGC	0.647000													4	57					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165514132	165514132	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:165514132T>A	ENST00000294818.1	+	1	889	c.599T>A	c.(598-600)aTa>aAa	p.I200K	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	200	LRRCT.					integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ATCTTCTTAATAGTGTTCCAT	0.498000													37	157					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154201188	154201188	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:154201188G>T	ENST00000428931.1	+	4	433	c.266G>T	c.(265-267)gGa>gTa	p.G89V	UBAP2L_ENST00000271877.7_Missense_Mutation_p.G89V|UBAP2L_ENST00000361546.2_Missense_Mutation_p.G89V|UBAP2L_ENST00000343815.6_Missense_Mutation_p.G89V	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	89	UBA.				binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTCTGGAAGGAAACCCAGAC	0.423000													12	104					4.3838e-07	5.52034e-07	1	1	0
ZNF585A	199704	broad.mit.edu	37	19	37644259	37644259	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:37644259A>G	ENST00000356958.4	-	5	800	c.542T>C	c.(541-543)aTg>aCg	p.M181T	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.M126T|ZNF585A_ENST00000355533.2_Missense_Mutation_p.M126T|ZNF585A_ENST00000292841.5_Missense_Mutation_p.M126T			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCTCTCTCATATGGGTTTT	0.393000													20	108					0	0	1	0	0
LCE2D	353141	broad.mit.edu	37	1	152636817	152636817	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:152636817G>T	ENST00000368784.1	+	2	291	c.236G>T	c.(235-237)cGt>cTt	p.R79L		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	79	Cys-rich.				keratinization			p.R79H(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGGCCCCGTCTCTTCCAC	0.682000													55	143					4.09106e-26	7.10004e-26	1	1	0
LDLRAD4	753	broad.mit.edu	37	18	13645348	13645348	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:13645348G>T	ENST00000361205.4	+	7	1281	c.613G>T	c.(613-615)Gtg>Ttg	p.V205L	LDLRAD4_ENST00000359446.5_Missense_Mutation_p.V205L|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.V168L|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.V107L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.V150L|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.V128L|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.V187L	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		CCGAGAGTCCGTGAGGGCCCC	0.582000													11	81					6.40141e-05	7.34395e-05	1	1	0
STARD13	90627	broad.mit.edu	37	13	33692207	33692207	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr13:33692207T>C	ENST00000336934.5	-	8	2392	c.2276A>G	c.(2275-2277)tAt>tGt	p.Y759C	STARD13_ENST00000255486.4_Missense_Mutation_p.Y751C|STARD13_ENST00000399365.3_Missense_Mutation_p.Y641C	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	759	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTTACACTGATAGATATGGAG	0.403000													27	47					0	0	1	0	0
FAM78A	286336	broad.mit.edu	37	9	134136376	134136376	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:134136376C>A	ENST00000372271.3	-	2	1052	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	FAM78A_ENST00000372269.3_Missense_Mutation_p.A226S|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	229										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CGCAGCCGGGCGCGCTGGCCC	0.652000													23	66					1.9806e-07	2.54551e-07	1	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21769217	21769217	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:21769217G>T	ENST00000206660.6	+	3	311	c.311G>T	c.(310-312)gGg>gTg	p.G104V	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.G104V|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.G104V|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.G104V			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	104					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GCAAGGCGCGGGCAGAAGGCG	0.726000													6	37					5.9392e-07	7.4042e-07	1	1	0
EXPH5	23086	broad.mit.edu	37	11	108382102	108382102	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:108382102C>G	ENST00000265843.4	-	6	4242	c.4132G>C	c.(4132-4134)Gat>Cat	p.D1378H	EXPH5_ENST00000428840.1_Missense_Mutation_p.D1302H|EXPH5_ENST00000443411.1_Missense_Mutation_p.D1190H|EXPH5_ENST00000525344.1_Missense_Mutation_p.D1371H	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1378					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTTCTGAATCACCTAGAGGT	0.373000													28	67					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71078980	71078980	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:71078980C>A	ENST00000452400.2	-	7	732	c.551G>T	c.(550-552)gGa>gTa	p.G184V		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	184					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGACCAAGATCCCCCATTTAC	0.408000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								48	187					1.47857e-17	2.38356e-17	1	1	0
EVPL	2125	broad.mit.edu	37	17	74003663	74003663	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:74003663C>T	ENST00000301607.3	-	22	5876	c.5623G>A	c.(5623-5625)Gag>Aag	p.E1875K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1897K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1875	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GAGTAGCGCTCACGGCTGAGC	0.632000													11	131					0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267221	66267221	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:66267221G>T	ENST00000327268.4	-	6	1244	c.1080C>A	c.(1078-1080)taC>taA	p.Y360*	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Nonsense_Mutation_p.Y360*	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	360						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TGAGCTCAATGTAAATCTTAC	0.433000													38	104					6.05902e-23	1.03003e-22	1	1	0
TBC1D15	64786	broad.mit.edu	37	12	72290500	72290500	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:72290500T>C	ENST00000550746.1	+	10	1143	c.1079T>C	c.(1078-1080)cTg>cCg	p.L360P	TBC1D15_ENST00000393309.3_Missense_Mutation_p.L114P|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L351P|TBC1D15_ENST00000485960.2_Missense_Mutation_p.L343P	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	360	Rab-GAP TBC.						protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAATTTCTTCTGGGTTATTTT	0.338000													20	45					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73434883	73434883	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr3:73434883G>T	ENST00000263666.4	-	9	1686	c.1572C>A	c.(1570-1572)caC>caA	p.H524Q	PDZRN3_ENST00000479530.1_Missense_Mutation_p.H241Q|PDZRN3_ENST00000535920.1_Missense_Mutation_p.H246Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.H181Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.H181Q|PDZRN3_ENST00000466348.1_5'UTR	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	524							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCATGTCCATGTGCAGGTCAT	0.562000													21	67					7.88262e-20	1.31612e-19	1	1	0
NCSTN	23385	broad.mit.edu	37	1	160314522	160314522	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:160314522G>T	ENST00000368063.1	+	3	316	c.36G>T	c.(34-36)agG>agT	p.R12S	NCSTN_ENST00000392212.4_Missense_Mutation_p.R12S|NCSTN_ENST00000535857.1_Missense_Mutation_p.R32S|NCSTN_ENST00000294785.5_Missense_Mutation_p.R32S			Q92542	NICA_HUMAN	nicastrin	32					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTTTGTGCAGGGGAAACTCAG	0.438000													14	57					2.31682e-05	2.70356e-05	1	1	0
TAF15	8148	broad.mit.edu	37	17	34171540	34171540	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:34171540G>A	ENST00000588240.1	+	15	1352	c.1237G>A	c.(1237-1239)Gga>Aga	p.G413R	TAF15_ENST00000311979.3_Missense_Mutation_p.G410R|TAF15_ENST00000592237.1_Missense_Mutation_p.G322R	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	413	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGGCAGAggtggagaccgagg	0.592000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								39	115					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191660	66191660	+	Silent	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:66191660C>G	ENST00000311034.2	+	7	1475	c.1299C>G	c.(1297-1299)ggC>ggG	p.G433G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	433					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCCAGGAGGCTGTGCCTTCC	0.557000													80	160					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115409891	115409891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:115409891G>T	ENST00000369358.4	-	9	1037	c.793C>A	c.(793-795)Cat>Aat	p.H265N	NRAP_ENST00000359988.3_Missense_Mutation_p.H265N|NRAP_ENST00000369360.3_Missense_Mutation_p.H265N|NRAP_ENST00000360478.3_Missense_Mutation_p.H265N			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	265						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TATTGTTGATGGTACCTCACC	0.443000													35	201					1.30015e-28	2.28826e-28	1	1	0
DSG3	1830	broad.mit.edu	37	18	29049188	29049188	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:29049188C>T	ENST00000257189.4	+	12	1856	c.1773C>T	c.(1771-1773)aaC>aaT	p.N591N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	591					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGTGTGACAACAGGGGCATCT	0.582000													19	92					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143028687	143028687	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:143028687C>A	ENST00000343257.2	+	10	1195	c.1108C>A	c.(1108-1110)Cgc>Agc	p.R370S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	370					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.R370S(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTATCTGCATCGCCAAGTCAT	0.478000													7	69					0.000274275	0.000302147	1	1	0
BMPER	168667	broad.mit.edu	37	7	34125418	34125418	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:34125418C>A	ENST00000297161.2	+	14	1833	c.1459C>A	c.(1459-1461)Ccg>Acg	p.P487T	BMPER_ENST00000426693.1_Missense_Mutation_p.P487T	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	487	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CATGGCTGCGCCGCATCTCAA	0.438000													17	62					5.3912e-06	6.44189e-06	1	1	0
CSGALNACT2	55454	broad.mit.edu	37	10	43678731	43678731	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:43678731G>C	ENST00000374466.3	+	8	1705	c.1370G>C	c.(1369-1371)gGa>gCa	p.G457A		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	457					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGTTGGGGTGGAGAAGATGTT	0.408000													24	164					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810867	123810867	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:123810867C>A	ENST00000307033.2	+	1	618	c.544C>A	c.(544-546)Cct>Act	p.P182T		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGTGATGTGCCTCAGCTGAT	0.478000													38	165					5.43694e-19	8.87664e-19	1	1	0
DNHD1	144132	broad.mit.edu	37	11	6524146	6524146	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:6524146C>T	ENST00000254579.6	+	4	1474	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	DNHD1_ENST00000527990.2_Missense_Mutation_p.R304W|DNHD1_ENST00000354685.3_Missense_Mutation_p.R304W	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	304					microtubule-based movement	dynein complex	microtubule motor activity	p.R304W(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCTCCCAGCCGGTACTTTAG	0.537000													17	32					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22023023	22023023	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:22023023G>C	ENST00000306385.5	+	1	775	c.105G>C	c.(103-105)gaG>gaC	p.E35D	BMP1_ENST00000354870.5_Missense_Mutation_p.E35D|BMP1_ENST00000397816.3_Missense_Mutation_p.E35D|BMP1_ENST00000397814.3_Missense_Mutation_p.E35D|BMP1_ENST00000306349.8_Missense_Mutation_p.E35D	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	35					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)		TGGCGGAGGAGGACGACTCGG	0.761000													6	9					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236908062	236908062	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:236908062C>A	ENST00000366578.4	+	12	1558	c.1392C>A	c.(1390-1392)atC>atA	p.I464I	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Silent_p.I464I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	464					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCGCAGCCATCGCGCAGGAGC	0.657000													7	48					0.0293803	0.0300225	1	1	0
TM9SF2	9375	broad.mit.edu	37	13	100193814	100193814	+	Splice_Site	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr13:100193814A>G	ENST00000376387.4	+	9	1100	c.908_splice	c.e9-1	p.I304_splice		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	304					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TTTCTACAGCATTATGAATTC	0.333000													33	64					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133894759	133894759	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:133894759G>C	ENST00000220616.4	+	7	831	c.791G>C	c.(790-792)gGc>gCc	p.G264A	TG_ENST00000377869.1_Missense_Mutation_p.G264A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	264	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATTTTTGCTGGCCTGGACCTT	0.478000													55	217					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099917	50099917	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:50099917G>T	ENST00000418929.2	+	4	2337	c.2325G>T	c.(2323-2325)caG>caT	p.Q775H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	476							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGTCTACCCAGCCCACTCCCC	0.701000													4	29					0.014758	0.0151843	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725511	140725511	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:140725511G>T	ENST00000253812.6	+	1	1911	c.1911G>T	c.(1909-1911)gcG>gcT	p.A637A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACGCGCTCAAGCAGA	0.701000													23	78					3.11337e-16	4.88219e-16	1	1	0
TRMT2B	79979	broad.mit.edu	37	X	100292981	100292981	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:100292981G>C	ENST00000372936.3	-	5	1135	c.363C>G	c.(361-363)ctC>ctG	p.L121L	TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372931.5_Silent_p.L121L|TRMT2B_ENST00000338687.7_Intron|TRMT2B_ENST00000372935.1_Silent_p.L121L|TRMT2B_ENST00000372939.1_Intron|TRMT2B_ENST00000545398.1_Silent_p.L121L	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	121							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TGACTCCATTGAGCATTTGGA	0.428000													70	150					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269404	30269404	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:30269404C>A	ENST00000378981.3	+	4	1115	c.794C>A	c.(793-795)cCc>cAc	p.P265H	MAGEB1_ENST00000397550.1_Missense_Mutation_p.P265H|MAGEB1_ENST00000397548.2_Missense_Mutation_p.P265H	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	265	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AACAGTGATCCCCCACGCTAT	0.507000													24	33					4.26978e-12	6.20154e-12	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196723505	196723505	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:196723505C>A	ENST00000312428.6	-	43	7860	c.7760G>T	c.(7759-7761)aGa>aTa	p.R2587I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2587	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CACTTCATATCTCTTTTTCAT	0.373000													24	103					6.36457e-07	7.90814e-07	1	1	0
NPC1L1	29881	broad.mit.edu	37	7	44576029	44576029	+	Splice_Site	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:44576029T>C	ENST00000289547.4	-	4	1737		c.e4-2		NPC1L1_ENST00000423141.1_Splice_Site|NPC1L1_ENST00000381160.3_Splice_Site|NPC1L1_ENST00000546276.1_Splice_Site	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1						cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGTCCTTTCCTGGGATAAGAA	0.607000													25	58					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17585192	17585192	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:17585192G>T	ENST00000226299.4	+	5	740	c.466G>T	c.(466-468)Gtg>Ttg	p.V156L	LAP3_ENST00000606142.1_Missense_Mutation_p.V125L	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	156					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GGAGGGAGCGGTGCTTGGTCT	0.527000													26	76					3.28513e-13	4.86589e-13	1	1	0
OR4D10	390197	broad.mit.edu	37	11	59245091	59245091	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:59245091C>A	ENST00000530162.1	+	1	246	c.189C>A	c.(187-189)ctC>ctA	p.L63L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTTTTTGCTCCATAATTTAT	0.443000													72	168					5.1178e-15	7.89302e-15	1	1	0
NIPAL4	348938	broad.mit.edu	37	5	156899856	156899856	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:156899856C>T	ENST00000311946.7	+	6	1405	c.1289C>T	c.(1288-1290)cCg>cTg	p.P430L	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.P411L	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	430						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TCTCCCGCCCCGGAACCCACT	0.498000													12	22					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30793054	30793054	+	Silent	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:30793054T>A	ENST00000262525.4	-	3	2802	c.2595A>T	c.(2593-2595)ccA>ccT	p.P865P		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	865					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGAGACACCTGGGTGGCAGC	0.562000													10	37					0	0	1	0	0
NAAA	27163	broad.mit.edu	37	4	76841044	76841044	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:76841044C>A	ENST00000505594.1	-	7	875	c.684G>T	c.(682-684)gtG>gtT	p.V228V	NAAA_ENST00000399497.3_Intron|NAAA_ENST00000286733.4_Intron|NAAA_ENST00000511606.1_Intron|NAAA_ENST00000507956.1_Intron			Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	0					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						GTATGCAGGACACTGTGACAC	0.408000													11	54					1.08611e-07	1.40799e-07	1	1	0
TMEM255A	55026	broad.mit.edu	37	X	119410810	119410810	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:119410810G>A	ENST00000371369.4	-	7	831	c.605C>T	c.(604-606)aCc>aTc	p.T202I	TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.T62I|TMEM255A_ENST00000309720.5_Missense_Mutation_p.T226I	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		GTTGAGGATGGTGGCAGACCA	0.507000													32	50					0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45268061	45268061	+	Silent	SNP	C	C	T	rs144015985	by1000genomes	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:45268061C>T	ENST00000020926.3	-	5	960	c.849G>A	c.(847-849)gaG>gaA	p.E283E		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	283						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CTGCAGATGGCTCCTGAAACA	0.547000													4	19					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099244	50099244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:50099244G>T	ENST00000418929.2	+	4	1664	c.1652G>T	c.(1651-1653)aGc>aTc	p.S551I		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	324	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGGGGACCCAGCTCCCTGGGA	0.711000													7	44					0.00621372	0.0065005	1	1	0
GAD2	2572	broad.mit.edu	37	10	26558096	26558096	+	Silent	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:26558096A>G	ENST00000376261.3	+	9	1472	c.969A>G	c.(967-969)aaA>aaG	p.K323K	GAD2_ENST00000259271.3_Silent_p.K323K	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	323					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TTGAAGCCAAACAGAAAGTAA	0.358000													15	68					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82417712	82417712	+	Silent	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:82417712T>C	ENST00000370728.1	+	11	2313	c.1668T>C	c.(1666-1668)gcT>gcC	p.A556A	LPHN2_ENST00000370723.1_Silent_p.A556A|LPHN2_ENST00000370725.1_Silent_p.A556A|LPHN2_ENST00000370713.1_Silent_p.A556A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Silent_p.A556A|LPHN2_ENST00000335786.5_Silent_p.A556A|LPHN2_ENST00000370717.2_Silent_p.A556A|LPHN2_ENST00000359929.3_Silent_p.A556A|LPHN2_ENST00000271029.4_Silent_p.A556A|LPHN2_ENST00000370727.1_Silent_p.A556A|LPHN2_ENST00000370715.1_Silent_p.A556A|LPHN2_ENST00000370730.1_Silent_p.A556A|LPHN2_ENST00000319517.6_Silent_p.A556A|LPHN2_ENST00000370721.1_Silent_p.A494A			O95490	LPHN2_HUMAN	latrophilin 2	556					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAGTGTTTGCTGGGGATGTAA	0.428000													12	74					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125175123	125175123	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:125175123G>T	ENST00000431078.1	+	4	849	c.485G>T	c.(484-486)aGt>aTt	p.S162I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	162	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S162N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGAATCCCAGTGGGAAGATT	0.502000													3	25					0.004672	0.00489448	1	1	0
CCDC136	64753	broad.mit.edu	37	7	128454947	128454947	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:128454947T>A	ENST00000297788.4	+	15	3386	c.3019T>A	c.(3019-3021)Tct>Act	p.S1007T	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1007						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTCGGATACTTCTGAGAGCGA	0.468000													3	14					0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293437	71293437	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:71293437G>T	ENST00000398530.1	-	1	484	c.447C>A	c.(445-447)ccC>ccA	p.P149P	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	149	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCAGCACACGGGGACAcagc	0.557000													21	140					2.27731e-05	2.6616e-05	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62294707	62294707	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:62294707G>T	ENST00000378024.4	-	5	7456	c.7182C>A	c.(7180-7182)caC>caA	p.H2394Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2394					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)				GGCTCTTCAAGTGTAGATCGA	0.483000													54	72					1.86277e-20	3.13113e-20	1	1	0
C6	729	broad.mit.edu	37	5	41154099	41154099	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:41154099C>A	ENST00000263413.3	-	15	2367	c.2101_splice	c.e15-1	p.R701_splice	C6_ENST00000337836.5_Splice_Site_p.R701_splice	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	701	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCACTCCGTCCCTGCAAGAG	0.393000													93	42					6.65942e-36	1.19454e-35	1	1	0
ARSF	416	broad.mit.edu	37	X	2994711	2994711	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:2994711G>T	ENST00000381127.1	+	4	504		c.e4+1		ARSF_ENST00000359361.2_Splice_Site|ARSF_ENST00000537104.1_Splice_Site	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F							extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCCGATCAGGTGCGCAAACT	0.582000													5	17					1.23904e-05	1.46414e-05	1	1	0
ATP10B	23120	broad.mit.edu	37	5	159992831	159992831	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:159992831G>T	ENST00000327245.5	-	26	4861	c.4015C>A	c.(4015-4017)Cca>Aca	p.P1339T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1339					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTTGTCTGGGGGGAGTTTG	0.478000													43	112					1.32136e-16	2.08518e-16	1	1	0
NAV3	89795	broad.mit.edu	37	12	78516179	78516179	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:78516179G>T	ENST00000397909.2	+	16	4382	c.4209G>T	c.(4207-4209)acG>acT	p.T1403T	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Silent_p.T1403T|NAV3_ENST00000228327.6_Silent_p.T1403T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1403	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCATGAGAACGGGTAGTGTGA	0.547000										HNSCC(70;0.22)			26	57					3.6726e-16	5.74708e-16	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62041161	62041161	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:62041161C>A	ENST00000578147.1	-	10	1553	c.1477G>T	c.(1477-1479)Ggt>Tgt	p.G493C	SCN4A_ENST00000435607.1_Missense_Mutation_p.G493C			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	493					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCCTCCCCACCTTCCAGAGCT	0.617000													8	8					0.000274275	0.000302147	1	1	0
TNXB	7148	broad.mit.edu	37	6	32025991	32025991	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:32025991T>A	ENST00000375244.3	-	22	7870	c.7669A>T	c.(7669-7671)Aag>Tag	p.K2557*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.K2557*			P22105	TENX_HUMAN	tenascin XB	2617					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCCTGTCCTTGTACTGCACG	0.652000													18	56					0	0	1	0	0
C7orf66	154907	broad.mit.edu	37	7	108524073	108524073	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:108524073C>A	ENST00000379007.2	-	2	393	c.339G>T	c.(337-339)atG>atT	p.M113I		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	113						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						CTTAATTTCCCATTTCCTTTG	0.323000													22	55					3.5997e-14	5.47271e-14	1	1	0
IKZF1	10320	broad.mit.edu	37	7	50468266	50468266	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:50468266G>T	ENST00000331340.3	+	8	1656	c.1501G>T	c.(1501-1503)Gac>Tac	p.D501Y	IKZF1_ENST00000349824.4_Missense_Mutation_p.D358Y|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.D459Y|IKZF1_ENST00000343574.5_Missense_Mutation_p.D414Y|IKZF1_ENST00000357364.4_Missense_Mutation_p.D414Y|IKZF1_ENST00000346667.4_Missense_Mutation_p.D271Y|IKZF1_ENST00000438033.1_Missense_Mutation_p.D414Y|IKZF1_ENST00000359197.5_Missense_Mutation_p.D459Y	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	501					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCACAGCCAGGACCGGTACGA	0.627000			"""D,T"""	BCL6	"""ALL, DLBCL"""								6	36					3.59834e-05	4.16649e-05	1	1	0
IKZF1	10320	broad.mit.edu	37	7	50468265	50468265	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:50468265G>T	ENST00000331340.3	+	8	1655	c.1500G>T	c.(1498-1500)caG>caT	p.Q500H	IKZF1_ENST00000349824.4_Missense_Mutation_p.Q357H|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.Q458H|IKZF1_ENST00000343574.5_Missense_Mutation_p.Q413H|IKZF1_ENST00000357364.4_Missense_Mutation_p.Q413H|IKZF1_ENST00000346667.4_Missense_Mutation_p.Q270H|IKZF1_ENST00000438033.1_Missense_Mutation_p.Q413H|IKZF1_ENST00000359197.5_Missense_Mutation_p.Q458H	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	500					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ACCACAGCCAGGACCGGTACG	0.627000			"""D,T"""	BCL6	"""ALL, DLBCL"""								6	37					3.59834e-05	4.16649e-05	1	1	0
ZNF572	137209	broad.mit.edu	37	8	125988734	125988734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:125988734G>A	ENST00000319286.5	+	3	378	c.224G>A	c.(223-225)tGg>tAg	p.W75*		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCACTGACATGGGTTCAAGAT	0.383000										HNSCC(60;0.17)			22	70					0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22056937	22056937	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:22056937T>C	ENST00000256906.4	+	3	684	c.584T>C	c.(583-585)aTg>aCg	p.M195T	HRH4_ENST00000426880.2_Missense_Mutation_p.M107T	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	195						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TATTTCAACATGAATATTTAT	0.438000													35	139					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344535	56344535	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:56344535A>C	ENST00000526812.2	-	1	728	c.663T>G	c.(661-663)atT>atG	p.I221M		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCGCTGCAAAAATGAAAAGAT	0.453000													8	85					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780254	37780254	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:37780254T>C	ENST00000447769.1	+	4	548	c.259T>C	c.(259-261)Ttc>Ctc	p.F87L	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.F87L|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	87						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGGCTGCCCTTCTGCAAATT	0.488000													10	91					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112510	148112510	+	Splice_Site	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:148112510C>G	ENST00000361727.3	+	24	4314	c.3796_splice	c.e24-1	p.G1266_splice	CNTNAP2_ENST00000538075.1_Splice_Site_p.G325_splice|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1266					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCCGTCAGGCGTCATTGCTG	0.557000										HNSCC(39;0.1)			6	47					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30505533	30505533	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:30505533G>T	ENST00000356798.6	+	12	1394	c.1213_splice	c.e12-1	p.G405_splice	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Splice_Site_p.G322_splice	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	405					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTTTCCTCAGGTTACACCGTG	0.602000													32	85					4.65686e-17	7.42715e-17	1	1	0
PBXIP1	57326	broad.mit.edu	37	1	154920756	154920756	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:154920756C>T	ENST00000368463.3	-	6	567	c.496G>A	c.(496-498)Gag>Aag	p.E166K	PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E11K|PBXIP1_ENST00000368460.3_Missense_Mutation_p.E166K|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E137K	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	166					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGCCGGCCTCCCGGCCCCGC	0.682000													6	11					0	0	1	0	0
PRR21	643905	broad.mit.edu	37	2	240982154	240982154	+	Silent	SNP	G	G	C	rs71420284		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:240982154G>C	ENST00000408934.1	-	1	245	c.246C>G	c.(244-246)ctC>ctG	p.L82L		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	82	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						TGTGGGTGAAGAGCCGTGGAT	0.612000													16	83					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78369392	78369392	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:78369392C>A	ENST00000278550.7	-	34	8483	c.8021G>T	c.(8020-8022)tGc>tTc	p.C2674F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGTGTTCAAGCACAGTGCCCC	0.602000													12	13					3.07112e-06	3.68731e-06	1	1	0
MYF5	4617	broad.mit.edu	37	12	81112714	81112714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:81112714G>T	ENST00000228644.3	+	3	804	c.652G>T	c.(652-654)Gag>Tag	p.E218*		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	218					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CACCTCCTCAGAGCAACCTGG	0.488000													29	66					9.80776e-20	1.62665e-19	1	1	0
MPPED2	744	broad.mit.edu	37	11	30557678	30557678	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:30557678G>A	ENST00000448418.2	-	3	533	c.173C>T	c.(172-174)aCg>aTg	p.T58M	MPPED2_ENST00000358117.5_Missense_Mutation_p.T58M	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	58					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GACAAACCGCGTGTGGCCCGC	0.483000													4	37					0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152682016	152682016	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:152682016C>G	ENST00000263985.6	-	1	159	c.119G>C	c.(118-120)aGg>aCg	p.R40T	PET112_ENST00000512306.1_Missense_Mutation_p.R40T|PET112_ENST00000515812.1_Missense_Mutation_p.R40T|PET112_ENST00000508611.1_Missense_Mutation_p.R40T	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	40						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTCTCTCCCCTAATCTGGTT	0.597000													13	51					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45475342	45475342	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:45475342A>G	ENST00000361462.2	+	5	2959	c.2776A>G	c.(2776-2778)Aaa>Gaa	p.K926E	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.K926E|FAM179B_ENST00000361577.3_Missense_Mutation_p.K926E			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	926							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTGCCTGATAAAGCTGATTT	0.423000													14	126					0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61295529	61295529	+	Missense_Mutation	SNP	C	C	A	rs17849204	by1000genomes	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:61295529C>A	ENST00000263846.4	-	5	807	c.480G>T	c.(478-480)caG>caT	p.Q160H	SYT7_ENST00000542836.1_Missense_Mutation_p.Q204H|SYT7_ENST00000542670.1_Missense_Mutation_p.Q368H|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000540677.1_Missense_Mutation_p.Q235H|SYT7_ENST00000539008.1_Missense_Mutation_p.Q443H|SYT7_ENST00000535826.1_Missense_Mutation_p.Q279H	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	160	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCGGCAGCTCCTGGGCCTTCA	0.607000													52	66					1.35964e-18	2.20132e-18	1	1	0
BNC2	54796	broad.mit.edu	37	9	16419146	16419146	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:16419146C>A	ENST00000380672.4	-	7	3198	c.3141G>T	c.(3139-3141)aaG>aaT	p.K1047N	BNC2_ENST00000545497.1_Missense_Mutation_p.K952N|BNC2_ENST00000380667.2_Missense_Mutation_p.K980N	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	1047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCAGGGTCCCCTTGTTGCTGT	0.468000													15	46					6.31663e-08	8.30376e-08	1	1	0
ZDHHC6	64429	broad.mit.edu	37	10	114203279	114203279	+	Missense_Mutation	SNP	C	C	T	rs141897265		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:114203279C>T	ENST00000369405.3	-	3	776	c.353G>A	c.(352-354)tGt>tAt	p.C118Y	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.C114Y	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	118						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GTACCTGTTACACTTTCTGCA	0.403000													10	130					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137501538	137501538	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:137501538G>C	ENST00000254900.5	-	11	1628	c.1257C>G	c.(1255-1257)atC>atG	p.I419M	BRD8_ENST00000411594.2_Missense_Mutation_p.I422M|BRD8_ENST00000230901.5_Missense_Mutation_p.I492M|BRD8_ENST00000402931.1_Missense_Mutation_p.I419M|BRD8_ENST00000455658.2_Missense_Mutation_p.I378M	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	419					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGATGGCAATGATGTCTCCAA	0.463000													5	85					0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39352280	39352280	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:39352280T>C	ENST00000289248.2	-	8	1816	c.808A>G	c.(808-810)Aaa>Gaa	p.K270E	RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.K350E|RHBDL2_ENST00000372990.1_Missense_Mutation_p.K270E|RHBDL2_ENST00000538156.1_Missense_Mutation_p.K337E			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	270					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AGCAGTGCTTTATCAAAGCAG	0.418000													10	94					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65387893	65387893	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:65387893G>A	ENST00000355703.3	+	9	2631	c.2092G>A	c.(2092-2094)Gga>Aga	p.G698R		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	698						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GACAGCTAATGGAGCCTGGTG	0.612000													14	29					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915112	176915112	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:176915112G>C	ENST00000367654.2	-	13	2236	c.2223C>G	c.(2221-2223)aaC>aaG	p.N741K	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.N733K|ASTN1_ENST00000361833.2_Missense_Mutation_p.N733K|ASTN1_ENST00000367657.3_Missense_Mutation_p.N733K			O14525	ASTN1_HUMAN	astrotactin 1	741					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGAATGGTTGTTGTAACCAA	0.483000													51	164					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238051727	238051727	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:238051727C>A	ENST00000366570.4	-	4	642	c.484G>T	c.(484-486)Gga>Tga	p.G162*	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	162	P-type.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCACAGTCTCCTCGAGAGATG	0.507000													24	73					5.35356e-11	7.62755e-11	1	1	0
MAGEB6	158809	broad.mit.edu	37	X	26212607	26212607	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:26212607C>A	ENST00000379034.1	+	2	793	c.644C>A	c.(643-645)tCc>tAc	p.S215Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	215	MAGE.							p.S215Y(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAGAAAGAGTCCATTTTGAAG	0.468000													18	57					7.45023e-12	1.07999e-11	1	1	0
GHR	2690	broad.mit.edu	37	5	42718570	42718570	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:42718570G>C	ENST00000230882.4	+	10	1151	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.E299Q|GHR_ENST00000537449.1_Missense_Mutation_p.E134Q	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	321					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAAATTAGAGGAGGTGAACAC	0.313000													54	172					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73768561	73768561	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:73768561C>A	ENST00000334126.7	-	25	5206	c.4980G>T	c.(4978-4980)tcG>tcT	p.S1660S	C2CD3_ENST00000313663.7_Silent_p.S1660S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1660	C2 2.					centrosome		p.S1660S(4)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACTGGGTATCGATACTTTCC	0.448000													20	138					1.64113e-05	1.93014e-05	1	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378610	31378610	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:31378610C>T	ENST00000297142.3	-	2	595	c.273G>A	c.(271-273)agG>agA	p.R91R		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	91					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TGAACTTGACCCTTTCCAATC	0.493000													31	263					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126792830	126792830	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:126792830G>T	ENST00000274473.6	+	26	3510	c.3243G>T	c.(3241-3243)gtG>gtT	p.V1081V	MEGF10_ENST00000503335.2_Silent_p.V1081V	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1081	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AACCTACAGTGAGTGTTGTCC	0.398000													5	75					1.024e-07	1.33674e-07	1	1	0
TPTE	7179	broad.mit.edu	37	21	10970061	10970061	+	Splice_Site	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr21:10970061G>T	ENST00000298232.7	-	6	434	c.65_splice	c.e6-1	p.P23_splice	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.P23_splice|TPTE_ENST00000361285.4_Splice_Site_p.P23_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	23					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTGTCTGTGGACTAGTGGAT	0.373000													19	152					5.03518e-11	7.21517e-11	1	1	0
ROBO4	54538	broad.mit.edu	37	11	124767120	124767120	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:124767120G>A	ENST00000306534.3	-	2	593	c.108C>T	c.(106-108)gtC>gtT	p.V36V	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Intron	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	36	Ig-like C2-type 1.				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)		CCTGGGGGTGGACTAGGATCT	0.652000													4	10					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43002166	43002166	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:43002166A>G	ENST00000428554.2	+	9	1154	c.11A>G	c.(10-12)gAa>gGa	p.E4G	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000340612.4_Missense_Mutation_p.E4G|CCDC30_ENST00000342022.4_Missense_Mutation_p.E4G			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	4										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ATGAGCCAAGAAAAAAATGAA	0.333000													10	62					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525180	248525180	+	Missense_Mutation	SNP	C	C	T	rs142091573	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:248525180C>T	ENST00000366475.1	+	1	298	c.298C>T	c.(298-300)Ctc>Ttc	p.L100F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAATTGTCTCTCATGGACAT	0.502000													23	323					0	0	1	0	0
CTH	1491	broad.mit.edu	37	1	70904452	70904452	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:70904452G>T	ENST00000411986.2	+	10	1236	c.1038G>T	c.(1036-1038)gtG>gtT	p.V346V	CTH_ENST00000370938.3_Silent_p.V378V|CTH_ENST00000346806.2_Silent_p.V334V	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	378					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GACTTTCTGTGGGCTTAGAGG	0.428000													30	89					1.62565e-12	2.38428e-12	1	1	0
VCP	7415	broad.mit.edu	37	9	35059077	35059077	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:35059077G>A	ENST00000358901.6	-	15	3039	c.2144C>T	c.(2143-2145)aCa>aTa	p.T715I		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	715					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGATGGGTTTGTCTGCCTCTC	0.547000													13	99					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21224686	21224686	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:21224686C>T	ENST00000233242.1	-	29	13735	c.13608G>A	c.(13606-13608)acG>acA	p.T4536T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4536					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T4536T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAGTAACTCCGTGATGTATA	0.363000													7	127					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48536592	48536592	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:48536592C>G	ENST00000358350.4	-	49	7279	c.6675G>C	c.(6673-6675)gaG>gaC	p.E2225D	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.E2225D|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.E2225D	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2225					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTTTATGATCTCCAGATTAA	0.333000													3	35					0	0	1	0	0
SLC39A9	55334	broad.mit.edu	37	14	69925101	69925101	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:69925101G>C	ENST00000031146.4	+	6	1195	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	SLC39A9_ENST00000336643.5_Missense_Mutation_p.E239Q|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Missense_Mutation_p.E216Q|SLC39A9_ENST00000556605.1_Intron			Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	239					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AGCCCTTTCAGAGGTGAACGC	0.468000													7	177					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	132937864	132937864	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:132937864G>C	ENST00000253861.4	+	1	36	c.7G>C	c.(7-9)Gca>Cca	p.A3P	EXOC4_ENST00000393161.2_Missense_Mutation_p.A3P	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	3					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CAAGATGGCGGCAGAAGCAGC	0.577000													12	73					0	0	1	0	0
TCL1B	9623	broad.mit.edu	37	14	96152829	96152829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:96152829C>A	ENST00000340722.7	+	1	76	c.25C>A	c.(25-27)Cta>Ata	p.L9I	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	9										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TTCTGTGCGTCTAGGGGTGCC	0.602000													17	77					3.45872e-05	4.02978e-05	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113078056	113078056	+	Silent	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:113078056G>C	ENST00000316851.7	+	5	672	c.672G>C	c.(670-672)gtG>gtC	p.V224V	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Silent_p.V116V|NCAM1_ENST00000401611.2_Silent_p.V233V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	234	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCACCCTGGTGTGCGATGCCG	0.537000													26	85					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41377671	41377671	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr15:41377671C>T	ENST00000361937.3	-	7	1193	c.769G>A	c.(769-771)Gat>Aat	p.D257N	INO80_ENST00000401393.3_Missense_Mutation_p.D257N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	257	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGAGGTGCATCGTGAGAAAAC	0.458000													11	93					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161524799	161524799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:161524799C>A	ENST00000356592.3	+	4	943	c.483C>A	c.(481-483)caC>caA	p.H161Q	GABRG2_ENST00000361925.4_Missense_Mutation_p.H161Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.H161Q|GABRG2_ENST00000393933.4_Missense_Mutation_p.H66Q	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	161					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTGATGCACACTGGATCACCA	0.428000													29	80					4.22769e-11	6.0697e-11	1	1	0
C12orf39	80763	broad.mit.edu	37	12	21680124	21680124	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:21680124C>T	ENST00000256969.2	+	3	309	c.143C>T	c.(142-144)gCa>gTa	p.A48V		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN	chromosome 12 open reading frame 39	48						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CTGAAAGGGGCACGTAAGTTC	0.458000													37	60					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32020721	32020721	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:32020721C>T	ENST00000375244.3	-	26	9042	c.8841G>A	c.(8839-8841)ccG>ccA	p.P2947P	TNXB_ENST00000375247.2_Silent_p.P2945P			P22105	TENX_HUMAN	tenascin XB	2992	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGGGGCTCCGGGGCCTCCG	0.657000													16	61					0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118315520	118315520	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:118315520G>C	ENST00000369221.2	+	9	848	c.820G>C	c.(820-822)Gac>Cac	p.D274H		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	274					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGGGACTCGAGACTTTGCGGC	0.393000													19	125					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912812	77912812	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chrX:77912812A>G	ENST00000321110.1	-	2	1401	c.1106T>C	c.(1105-1107)aTa>aCa	p.I369T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	369							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTCATCTTGTATAGAACTGGC	0.488000													19	32					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11772454	11772454	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:11772454C>T	ENST00000262442.3	+	51	10005	c.9937C>T	c.(9937-9939)Ctt>Ttt	p.L3313F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L3313F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3313	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		TAAACAGCACCTTAATGAAAA	0.473000													23	72					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187558970	187558970	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:187558970C>G	ENST00000304698.5	+	1	273	c.70C>G	c.(70-72)Cgg>Ggg	p.R24G	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	24						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCTGAAAGCGCGGCTGGTCCC	0.662000													4	18					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116616407	116616407	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:116616407G>T	ENST00000395715.3	-	4	2366	c.1789C>A	c.(1789-1791)Ccg>Acg	p.P597T	TRPS1_ENST00000520276.1_Missense_Mutation_p.P588T|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000220888.5_Missense_Mutation_p.P584T|TRPS1_ENST00000519674.1_Missense_Mutation_p.P584T	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	584					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAAGCAAACGGATAAGTAATT	0.468000									Langer-Giedion syndrome				7	44					2.7689e-08	3.67222e-08	1	1	0
SLC6A17	388662	broad.mit.edu	37	1	110737302	110737302	+	Silent	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:110737302C>T	ENST00000331565.4	+	9	1886	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	SLC6A17_ENST00000465159.1_3'UTR	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	467					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGATGCTTATCAACCTGGGCC	0.592000													10	50					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8007650	8007650	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:8007650A>G	ENST00000344293.5	+	3	2383	c.2177A>G	c.(2176-2178)gAg>gGg	p.E726G		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	726	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						agagagaaagagaagagagag	0.383000													9	36					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106456569	106456569	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:106456569G>T	ENST00000407775.2	+	3	511	c.261G>T	c.(259-261)ccG>ccT	p.P87P	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	87					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGAGAAACCGGGGCAACCTG	0.443000													7	20					0.000157383	0.000176761	1	1	0
MEOX2	4223	broad.mit.edu	37	7	15652023	15652023	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:15652023C>A	ENST00000262041.5	-	3	1313	c.904G>T	c.(904-906)Gcg>Tcg	p.A302S		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	302					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CATAAGTGCGCATGCTCTGAG	0.478000													11	76					0.000978159	0.00105275	1	1	0
C2CD2L	9854	broad.mit.edu	37	11	118983228	118983228	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:118983228C>T	ENST00000336702.3	+	9	1480	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	C2CD2L_ENST00000528586.1_Missense_Mutation_p.S122F	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	374						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTGTGGGCTCCCCCTCCAGA	0.652000													10	169					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25591900	25591900	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:25591900G>T	ENST00000269141.3	-	4	879	c.456C>A	c.(454-456)ggC>ggA	p.G152G	CDH2_ENST00000399380.3_Silent_p.G121G	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	152					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTGTAGGTGGCCACTGTGCT	0.453000													10	100					0.000442599	0.000484012	1	1	0
TTN	7273	broad.mit.edu	37	2	179437771	179437771	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:179437771G>T	ENST00000589042.1	-	326	73312	c.73088C>A	c.(73087-73089)gCc>gAc	p.A24363D	TTN_ENST00000460472.2_Missense_Mutation_p.A15298D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A22722D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A15490D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A21795D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A15423D|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22722	Fibronectin type-III 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTGGCAGGGCAATCTCAAC	0.448000													4	27					0.00909568	0.0094494	1	1	0
DAB2IP	153090	broad.mit.edu	37	9	124536647	124536647	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:124536647A>T	ENST00000408936.3	+	13	3258	c.3076A>T	c.(3076-3078)Agg>Tgg	p.R1026W	DAB2IP_ENST00000259371.2_Missense_Mutation_p.R998W|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R902W			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1026					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCCCCCCACAGGGATAGGCT	0.637000													4	24					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45645568	45645568	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr14:45645568G>T	ENST00000267430.5	+	14	3696	c.3611G>T	c.(3610-3612)cGt>cTt	p.R1204L	FANCM_ENST00000542564.2_Missense_Mutation_p.R1178L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1204					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTTAAATCTCGTGATCAGAGA	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	61					0.00010058	0.000113991	1	1	0
ATP1A3	478	broad.mit.edu	37	19	42471895	42471895	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:42471895C>A	ENST00000545399.1	-	21	3032	c.2879G>T	c.(2878-2880)gGg>gTg	p.G960V	ATP1A3_ENST00000602133.1_Missense_Mutation_p.G917V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.G947V|ATP1A3_ENST00000543770.1_Missense_Mutation_p.G958V	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	947					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTCAAACAGCCCGAAGATCAG	0.667000													17	27					1.45105e-14	2.22872e-14	1	1	0
HELZ	9931	broad.mit.edu	37	17	65103393	65103393	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:65103393C>A	ENST00000358691.5	-	31	5299	c.5133G>T	c.(5131-5133)caG>caT	p.Q1711H	HELZ_ENST00000580168.1_Missense_Mutation_p.Q1712H	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAAAAGGGTTCTGCGGTGGCC	0.473000													35	218					3.90053e-15	6.04057e-15	1	1	0
NKIRAS2	28511	broad.mit.edu	37	17	40174504	40174504	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:40174504A>G	ENST00000307641.5	+	3	803	c.182A>G	c.(181-183)gAc>gGc	p.D61G	NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.D61G|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.D61G|NKIRAS2_ENST00000449471.4_Intron|NKIRAS2_ENST00000479407.1_Intron|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.D61G|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.D61G|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.D59G	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	61	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CGTTTCTATGACACCCGGGGG	0.562000													5	29					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105158243	105158243	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:105158243G>C	ENST00000369797.3	+	2	154	c.60G>C	c.(58-60)gaG>gaC	p.E20D		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	20					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACAAACCAGAGAAAGCTTTCC	0.418000													8	37					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134145720	134145720	+	Silent	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:134145720C>A	ENST00000220616.4	+	47	8044	c.8004C>A	c.(8002-8004)ccC>ccA	p.P2668P	TG_ENST00000519543.1_Silent_p.P801P|TG_ENST00000542445.1_Silent_p.P1038P|TG_ENST00000377869.1_Silent_p.P2611P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2668					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAGAAATCCCAACTACCCTT	0.473000													7	113					0.0581538	0.0590217	1	1	0
INTS7	25896	broad.mit.edu	37	1	212193585	212193585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:212193585G>C	ENST00000366994.3	-	3	354	c.250C>G	c.(250-252)Ctt>Gtt	p.L84V	INTS7_ENST00000440600.2_Intron|INTS7_ENST00000366992.3_Missense_Mutation_p.L84V|INTS7_ENST00000366993.3_Missense_Mutation_p.L84V|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	84					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GTAACTTTAAGAACACATAGC	0.294000													5	26					0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50594820	50594820	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:50594820C>A	ENST00000374139.2	-	4	329	c.319G>T	c.(319-321)Gca>Tca	p.A107S	DRGX_ENST00000434016.1_Missense_Mutation_p.A112S			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	112					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GTCACCTCTGCCATGGGCTCC	0.607000													32	93					1.45844e-13	2.19058e-13	1	1	0
CER1	9350	broad.mit.edu	37	9	14722195	14722195	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:14722195C>A	ENST00000380911.3	-	1	520	c.476G>T	c.(475-477)tGg>tTg	p.W159L		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	159					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GCAGGTCTCCCAATGTACTTC	0.527000													15	46					0.000422831	0.000464432	1	1	0
ADRA2A	150	broad.mit.edu	37	10	112838897	112838897	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr10:112838897G>A	ENST00000280155.2	+	1	2108	c.1143G>A	c.(1141-1143)caG>caA	p.Q381Q		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	366					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	GCGGGCGGCAGAACCGCGAGA	0.731000													27	138					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13386728	13386728	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:13386728G>T	ENST00000360228.5	-	24	3924	c.3925C>A	c.(3925-3927)Cgt>Agt	p.R1309S	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1310S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1310					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAGAGGTCACGGAAGTAGGCA	0.572000													12	21					1.05317e-09	1.44017e-09	1	1	0
MYCBPAP	84073	broad.mit.edu	37	17	48594812	48594812	+	Splice_Site	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:48594812C>A	ENST00000323776.5	+	3	654	c.493_splice	c.e3+1	p.S164_splice	MYCBPAP_ENST00000436259.2_Splice_Site_p.S127_splice	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	127					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGGACTACTCCGGTACACCCA	0.517000													43	111					3.4345e-17	5.51288e-17	1	1	0
CORO6	84940	broad.mit.edu	37	17	27944550	27944550	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr17:27944550T>A	ENST00000345068.5	-	6	934	c.721A>T	c.(721-723)Atg>Ttg	p.M241L	CORO6_ENST00000584969.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.M241L|CORO6_ENST00000445145.2_Intron|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000456796.3_Intron|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000580212.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6	241					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CGCTGGCTCATGCGGGTGAAG	0.697000													10	25					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172942530	172942530	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:172942530T>A	ENST00000315796.4	+	7	1097	c.710T>A	c.(709-711)aTa>aAa	p.I237K	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	237					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TAAAGCCACATAACTCATCAG	0.303000													8	66					0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106118662	106118662	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr13:106118662G>A	ENST00000375936.3	+	1	71	c.25G>A	c.(25-27)Gat>Aat	p.D9N	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_5'UTR	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	9						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					gatgggtgctgattctctcca	0.517000													16	52					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232577060	232577060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:232577060C>A	ENST00000366630.1	-	13	3977	c.3619G>T	c.(3619-3621)Gat>Tat	p.D1207Y	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D1207Y|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.D281Y			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1207					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTGGGGGAATCTTTGCAACTT	0.468000													106	413					1.65916e-42	3.00497e-42	1	1	0
CPO	130749	broad.mit.edu	37	2	207827201	207827201	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:207827201G>T	ENST00000272852.3	+	7	686	c.640G>T	c.(640-642)Gag>Tag	p.E214*		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	214					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GTCTGAACCAGAGACTAAAGC	0.453000													38	111					9.73076e-26	1.68097e-25	1	1	0
TRIM55	84675	broad.mit.edu	37	8	67062624	67062624	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:67062624G>A	ENST00000315962.4	+	7	1281	c.908G>A	c.(907-909)gGc>gAc	p.G303D	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.G303D|TRIM55_ENST00000353317.5_Missense_Mutation_p.G303D	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	303	COS.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ATAGAACATGGCTATGAGAAC	0.368000													7	102					0	0	1	0	0
BIRC7	79444	broad.mit.edu	37	20	61867617	61867617	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:61867617G>T	ENST00000217169.3	+	1	383	c.169G>T	c.(169-171)Ggc>Tgc	p.G57C	BIRC7_ENST00000342412.6_Missense_Mutation_p.G57C	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	57					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GCAGATCCTGGGCCAGCTGCG	0.701000													5	18					0.00116845	0.00125035	1	1	0
ZNF334	55713	broad.mit.edu	37	20	45129982	45129982	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr20:45129982G>A	ENST00000457685.2	-	6	3205	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	ZNF334_ENST00000593880.1_Missense_Mutation_p.R689C|ZNF334_ENST00000347606.4_Missense_Mutation_p.R666C			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	666					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GATTTGTGGCGAAATGTTTTC	0.358000													21	99					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21783467	21783467	+	Splice_Site	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:21783467T>A	ENST00000382254.1	-	11	2479	c.1393_splice	c.e11+1	p.S465_splice	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Splice_Site_p.S465_splice|CDH12_ENST00000522262.1_Splice_Site_p.S425_splice	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	465	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCATACTTACTAACTTTACTC	0.368000										HNSCC(59;0.17)			14	107					0	0	1	0	0
FAM19A5	25817	broad.mit.edu	37	22	49042449	49042449	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr22:49042449C>A	ENST00000358295.5	+	2	307	c.132C>A	c.(130-132)gaC>gaA	p.D44E	FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.D51E	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	51						extracellular region|integral to membrane		p.D44D(1)|p.D51D(1)		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)		TGACCTTGGACCGGGACAGCA	0.677000													6	33					0.00116845	0.00125035	1	1	0
DOCK9	23348	broad.mit.edu	37	13	99534187	99534187	+	Silent	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr13:99534187G>A	ENST00000376460.1	-	24	2714	c.2634C>T	c.(2632-2634)ctC>ctT	p.L878L	DOCK9_ENST00000442173.1_Silent_p.L878L|DOCK9_ENST00000448493.2_Silent_p.L890L|DOCK9_ENST00000339416.2_Silent_p.L879L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	879	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGCTCTGGTGAGGACTCGGA	0.532000													4	7					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732605	152732605	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:152732605C>A	ENST00000368773.1	+	2	599	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	KPRP_ENST00000606109.1_Missense_Mutation_p.Q181K	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	181	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTCTCCACCCAGTGCCAGTA	0.557000													46	139					3.05275e-18	4.93187e-18	1	1	0
EPG5	57724	broad.mit.edu	37	18	43531136	43531136	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:43531136T>G	ENST00000282041.5	-	4	1355	c.1321A>C	c.(1321-1323)Atg>Ctg	p.M441L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	441					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGGTGAACATGAATAAGACA	0.383000													4	28					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66205196	66205196	+	Silent	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:66205196G>T	ENST00000503581.1	-	4	645	c.108C>A	c.(106-108)ccC>ccA	p.P36P	EYS_ENST00000370621.3_Silent_p.P36P|EYS_ENST00000342421.5_Silent_p.P36P|EYS_ENST00000393380.2_Silent_p.P36P|EYS_ENST00000370618.3_Silent_p.P36P|EYS_ENST00000370616.2_Silent_p.P36P	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	36					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATATGATGAGGGTTGTGGAT	0.388000													31	131					4.02929e-09	5.46988e-09	1	1	0
ZFYVE16	9765	broad.mit.edu	37	5	79743953	79743953	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:79743953C>T	ENST00000338008.5	+	7	3013	c.2833C>T	c.(2833-2835)Cca>Tca	p.P945S	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P945S|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P945S	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	945					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTCTCAGGTTCCATCAGTGGA	0.383000													9	51					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74680239	74680239	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr18:74680239G>T	ENST00000253159.8	+	31	5680	c.5482G>T	c.(5482-5484)Gag>Tag	p.E1828*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.E1830*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1828					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCTCCACCTGGAGGAGGTGGT	0.587000													17	78					1.15088e-07	1.48424e-07	1	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43626729	43626729	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr9:43626729T>A	ENST00000332857.6	-	4	1986	c.1958A>T	c.(1957-1959)cAg>cTg	p.Q653L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CTTCACCTTCTGTGCCTCCTT	0.557000													29	77					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139601675	139601675	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:139601675C>G	ENST00000303045.6	-	65	5148	c.4702G>C	c.(4702-4704)Ggg>Cgg	p.G1568R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1548R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1568	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGTTCCCCGGGTTGACCT	0.577000										HNSCC(7;0.00092)			8	12					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120629471	120629471	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:120629471G>A	ENST00000427067.2	-	7	758	c.578C>T	c.(577-579)aCa>aTa	p.T193I	ENPP2_ENST00000259486.6_Missense_Mutation_p.T197I|ENPP2_ENST00000075322.6_Missense_Mutation_p.T197I|ENPP2_ENST00000522826.1_Missense_Mutation_p.T197I			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	197					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGGAGAGTGTGTGCCACAAGA	0.378000													16	66					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120996267	120996267	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:120996267G>A	ENST00000392793.1	+	8	1731	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	TECTA_ENST00000264037.2_Missense_Mutation_p.G487E			O75443	TECTA_HUMAN	tectorin alpha	487	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGGATCTGGGAGAGAGCTGG	0.577000													7	179					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502755	94502755	+	Silent	SNP	C	C	A	rs147884766	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:94502755C>A	ENST00000370225.3	-	25	3845	c.3759G>T	c.(3757-3759)acG>acT	p.T1253T		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1253			T -> M (in FFM; could be a rare polymorphism).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGTCAGCCAGCGTCTCCTCCA	0.483000													22	104					6.44725e-10	8.8813e-10	1	1	0
RHBDD1	84236	broad.mit.edu	37	2	227729482	227729482	+	Missense_Mutation	SNP	A	A	T	rs147490611		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:227729482A>T	ENST00000392062.2	+	4	597	c.73A>T	c.(73-75)Aac>Tac	p.N25Y	RHBDD1_ENST00000341329.3_Missense_Mutation_p.N25Y	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	25						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TGTTGGGATCAACAATATTCC	0.458000													36	152					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210558713	210558713	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:210558713G>A	ENST00000360351.4	+	7	2325	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	MAP2_ENST00000447185.1_Missense_Mutation_p.D603N|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	607					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGAGTCTATTGATACCATGTC	0.438000													18	67					0	0	1	0	0
SNX7	51375	broad.mit.edu	37	1	99156727	99156727	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr1:99156727delA	ENST00000370189.5	+	4	632	c.268delA	c.(268-270)ctfs	p.T90fs	SNX7_ENST00000306121.3_Frame_Shift_Del_p.T154fs|SNX7_ENST00000529992.1_Frame_Shift_Del_p.T154fs			Q9UNH6	SNX7_HUMAN	sorting nexin 7	90	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AGCACACCCCACTCTGATTAT	0.373													15	39	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207431999	207431999	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr2:207431999delT	ENST00000264377.3	+	15	1775	c.1447delT	c.(1447-1449)ttfs	p.F483fs	ADAM23_ENST00000374416.1_Frame_Shift_Del_p.F483fs|ADAM23_ENST00000374415.3_Frame_Shift_Del_p.F483fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	483	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GTATAGAGACTTTTTACAGAG	0.358													41	96	---	---	---	---					
CRMP1	1400	broad.mit.edu	37	4	5862865	5862865	+	Frame_Shift_Del	DEL	G	G	-	rs145307270		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr4:5862865delG	ENST00000324989.7	-	3	631	c.543delC	c.(541-543)ccfs	p.P181fs	CRMP1_ENST00000397890.2_Frame_Shift_Del_p.P67fs|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Frame_Shift_Del_p.P65fs	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	67					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CAATACCTCCGGGAATAACCA	0.552													14	117	---	---	---	---					
EEF1E1	9521	broad.mit.edu	37	6	8097553	8097553	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:8097553delC	ENST00000379715.5	-	2	291	c.235delG	c.(235-237)tcfs	p.V79fs	EEF1E1_ENST00000507463.1_Frame_Shift_Del_p.V79fs|EEF1E1_ENST00000429723.2_Frame_Shift_Del_p.V79fs|EEF1E1-MUTED_ENST00000397456.2_Frame_Shift_Del_p.V79fs	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	79	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					ACTTGAGTGACCCTGTATTCT	0.418													46	221	---	---	---	---					
HIST1H3E	8353	broad.mit.edu	37	6	26225624	26225624	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr6:26225624delC	ENST00000360408.1	+	1	242	c.242delC	c.(241-243)acfs	p.T81fs		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	81					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GACTTCAAGACCGACCTGCGC	0.592													14	82	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114282627	114282627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:114282627delA	ENST00000393500.3	+	13	1533	c.713delA	c.(712-714)ctfs	p.H239fs	FOXP2_ENST00000408937.3_Frame_Shift_Del_p.H339fs|FOXP2_ENST00000393494.2_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000403559.4_Frame_Shift_Del_p.H331fs|FOXP2_ENST00000393489.3_Frame_Shift_Del_p.H222fs|FOXP2_ENST00000393491.3_Frame_Shift_Del_p.H222fs|FOXP2_ENST00000378237.3_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000350908.4_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000393498.2_Frame_Shift_Del_p.H293fs|FOXP2_ENST00000390668.3_Frame_Shift_Del_p.H338fs|FOXP2_ENST00000360232.4_Frame_Shift_Del_p.H314fs			O15409	FOXP2_HUMAN	forkhead box P2	314	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CCAATAACTCATCATTCCATA	0.388													18	161	---	---	---	---					
KCND2	3751	broad.mit.edu	37	7	120382616	120382616	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr7:120382616delC	ENST00000331113.4	+	4	2392	c.1427delC	c.(1426-1428)acfs	p.T476fs		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	476					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AGCTTTGAAACCCAGCACCAC	0.453													24	141	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77618211	77618211	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr8:77618211delG	ENST00000521891.2	+	2	2336	c.1888delG	c.(1888-1890)gtfs	p.G630fs	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.G630fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.G630fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.G630fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	630						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTCTCTTGGTGGTCATATGAC	0.527										HNSCC(33;0.089)			23	50	---	---	---	---					
IFNG-AS1	100885789	broad.mit.edu	37	12	68429882	68429882	+	RNA	DEL	T	T	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr12:68429882delT	ENST00000536914.1	+	0	336																											AAGAAGACACTGAAGAACATC	0.413													20	46	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													4	9	---	---	---	---					
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcc>gc	p.AH230del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	230	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621													7	56	---	---	---	---					
BAIAP3	8938	broad.mit.edu	37	16	1395754	1395754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr16:1395754delC	ENST00000324385.5	+	23	2334	c.2176delC	c.(2176-2178)ccfs	p.P726fs	BAIAP3_ENST00000568887.1_Frame_Shift_Del_p.P663fs|BAIAP3_ENST00000562208.1_Frame_Shift_Del_p.P668fs|BAIAP3_ENST00000426824.3_Frame_Shift_Del_p.P691fs|BAIAP3_ENST00000397489.1_Frame_Shift_Del_p.P708fs|BAIAP3_ENST00000397488.2_Frame_Shift_Del_p.P708fs|BAIAP3_ENST00000421665.2_Frame_Shift_Del_p.P655fs	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	726	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				cTAGCTGGAGCCCGTGGACGC	0.711													2	4	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9046473	9046473	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:9046473delC	ENST00000397910.4	-	5	35361	c.35158delG	c.(35158-35160)ccfs	p.A11720fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11722	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						GGACTGGTGGCCATTACAGGT	0.517													55	118	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9087356	9087357	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:9087356_9087357insA	ENST00000397910.4	-	1	4661_4662	c.4458_4459insT	c.(4456-4461)ttctatfs	p.Y1487fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1487	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						GGAAAAATAGCAAATGTACTCA	0.431													55	157	---	---	---	---					
KIRREL2	84063	broad.mit.edu	37	19	36357405	36357406	+	Frame_Shift_Ins	INS	-	-	T	rs148345309	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	c322f1e3-cf36-4f3a-9dca-18ec91ff9136	g.chr19:36357405_36357406insT	ENST00000347900.6	+	15	1929_1930	c.1719_1720insT	c.(1717-1722)caggaafs	p.QE573fs	KIRREL2_ENST00000262625.7_Frame_Shift_Ins_p.QE623fs|NPHS1_ENST00000591817.1_5'UTR|KIRREL2_ENST00000586102.2_3'UTR|KIRREL2_ENST00000360202.5_3'UTR	NM_199179.2	NP_954648.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	0					cell adhesion	integral to membrane|plasma membrane		p.W624R(1)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CATCTTTCCAATGGAAGAGTCC	0.559													45	116	---	---	---	---					
SNX7	51375	broad.mit.edu	37	1	99156727	99156727	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr1:99156727delA	ENST00000370189.5	+	4	632	c.268delA	c.(268-270)ctfs	p.T90fs	SNX7_ENST00000306121.3_Frame_Shift_Del_p.T154fs|SNX7_ENST00000529992.1_Frame_Shift_Del_p.T154fs			Q9UNH6	SNX7_HUMAN	sorting nexin 7	90	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AGCACACCCCACTCTGATTAT	0.373													15	39	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207431999	207431999	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr2:207431999delT	ENST00000264377.3	+	15	1775	c.1447delT	c.(1447-1449)ttfs	p.F483fs	ADAM23_ENST00000374415.3_Frame_Shift_Del_p.F483fs|ADAM23_ENST00000374416.1_Frame_Shift_Del_p.F483fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	483	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GTATAGAGACTTTTTACAGAG	0.358													41	96	---	---	---	---					
CRMP1	1400	broad.mit.edu	37	4	5862865	5862865	+	Frame_Shift_Del	DEL	G	G	-	rs145307270		TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr4:5862865delG	ENST00000324989.7	-	3	631	c.543delC	c.(541-543)ccfs	p.P181fs	CRMP1_ENST00000397890.2_Frame_Shift_Del_p.P67fs|CRMP1_ENST00000512574.1_Frame_Shift_Del_p.P65fs|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	67					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CAATACCTCCGGGAATAACCA	0.552													14	117	---	---	---	---					
PCSK1	5122	broad.mit.edu	37	5	95729069	95729070	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr5:95729069_95729070delTG	ENST00000311106.3	-	14	2134_2135	c.1897_1898delCA	c.(1897-1899)afs	p.Q633fs	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Frame_Shift_Del_p.Q586fs|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	633					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGGTTCTCTTGTGTGGGCTGC	0.559													11	42	---	---	---	---					
EEF1E1	9521	broad.mit.edu	37	6	8097553	8097553	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:8097553delC	ENST00000379715.5	-	2	291	c.235delG	c.(235-237)tcfs	p.V79fs	EEF1E1-MUTED_ENST00000397456.2_Frame_Shift_Del_p.V79fs|EEF1E1_ENST00000507463.1_Frame_Shift_Del_p.V79fs|EEF1E1_ENST00000429723.2_Frame_Shift_Del_p.V79fs	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	79	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					ACTTGAGTGACCCTGTATTCT	0.418													46	221	---	---	---	---					
HIST1H3E	8353	broad.mit.edu	37	6	26225624	26225624	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr6:26225624delC	ENST00000360408.1	+	1	242	c.242delC	c.(241-243)acfs	p.T81fs		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	81					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GACTTCAAGACCGACCTGCGC	0.592													14	82	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114282627	114282627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:114282627delA	ENST00000393500.3	+	13	1533	c.713delA	c.(712-714)ctfs	p.H239fs	FOXP2_ENST00000360232.4_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000378237.3_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000390668.3_Frame_Shift_Del_p.H338fs|FOXP2_ENST00000393498.2_Frame_Shift_Del_p.H293fs|FOXP2_ENST00000403559.4_Frame_Shift_Del_p.H331fs|FOXP2_ENST00000393491.3_Frame_Shift_Del_p.H222fs|FOXP2_ENST00000350908.4_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000408937.3_Frame_Shift_Del_p.H339fs|FOXP2_ENST00000393494.2_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000393489.3_Frame_Shift_Del_p.H222fs			O15409	FOXP2_HUMAN	forkhead box P2	314	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CCAATAACTCATCATTCCATA	0.388													18	161	---	---	---	---					
KCND2	3751	broad.mit.edu	37	7	120382616	120382616	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr7:120382616delC	ENST00000331113.4	+	4	2392	c.1427delC	c.(1426-1428)acfs	p.T476fs		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	476					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AGCTTTGAAACCCAGCACCAC	0.453													24	141	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77618211	77618211	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr8:77618211delG	ENST00000521891.2	+	2	2336	c.1888delG	c.(1888-1890)gtfs	p.G630fs	ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.G630fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.G630fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.G630fs|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	630						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTCTCTTGGTGGTCATATGAC	0.527										HNSCC(33;0.089)			23	50	---	---	---	---					
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(301-306)ctttttfs	p.LF101fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													9	458	---	---	---	---					
IFNG-AS1	100885789	broad.mit.edu	37	12	68429882	68429882	+	RNA	DEL	T	T	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr12:68429882delT	ENST00000536914.1	+	0	336																											AAGAAGACACTGAAGAACATC	0.413													20	46	---	---	---	---					
MORF4L1	10933	broad.mit.edu	37	15	79186527	79186527	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr15:79186527delC	ENST00000331268.5	+	11	1078	c.874delC	c.(874-876)ccfs	p.P292fs	MORF4L1_ENST00000379535.4_Frame_Shift_Del_p.P278fs|MORF4L1_ENST00000426013.2_Frame_Shift_Del_p.P253fs|MORF4L1_ENST00000559345.1_Frame_Shift_Del_p.P165fs|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Frame_Shift_Del_p.P165fs|MORF4L1_ENST00000558746.1_Frame_Shift_Del_p.P226fs	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	292	Sufficient for interaction with PHF12.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TCCCGATGCACCCATGTCCCA	0.403													46	121	---	---	---	---					
BAIAP3	8938	broad.mit.edu	37	16	1395754	1395754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr16:1395754delC	ENST00000324385.5	+	23	2334	c.2176delC	c.(2176-2178)ccfs	p.P726fs	BAIAP3_ENST00000426824.3_Frame_Shift_Del_p.P691fs|BAIAP3_ENST00000397489.1_Frame_Shift_Del_p.P708fs|BAIAP3_ENST00000397488.2_Frame_Shift_Del_p.P708fs|BAIAP3_ENST00000568887.1_Frame_Shift_Del_p.P663fs|BAIAP3_ENST00000421665.2_Frame_Shift_Del_p.P655fs|BAIAP3_ENST00000562208.1_Frame_Shift_Del_p.P668fs	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	726	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				cTAGCTGGAGCCCGTGGACGC	0.711													2	4	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9046473	9046473	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:9046473delC	ENST00000397910.4	-	5	35361	c.35158delG	c.(35158-35160)ccfs	p.A11720fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11722	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						GGACTGGTGGCCATTACAGGT	0.517													55	118	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9087356	9087357	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:9087356_9087357insA	ENST00000397910.4	-	1	4661_4662	c.4458_4459insT	c.(4456-4461)ttctatfs	p.Y1487fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1487	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						GGAAAAATAGCAAATGTACTCA	0.431													55	157	---	---	---	---					
KIRREL2	84063	broad.mit.edu	37	19	36357405	36357406	+	Frame_Shift_Ins	INS	-	-	T	rs148345309	byFrequency	TCGA-44-7662-01A-11D-2063-08	TCGA-44-7662-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c35f0ace-0012-4ad4-90de-617f5d764f42	06ffed9c-e5b7-421f-8536-78d7b0971e8b	g.chr19:36357405_36357406insT	ENST00000347900.6	+	15	1929_1930	c.1719_1720insT	c.(1717-1722)caggaafs	p.QE573fs	KIRREL2_ENST00000360202.5_3'UTR|NPHS1_ENST00000591817.1_5'UTR|KIRREL2_ENST00000262625.7_Frame_Shift_Ins_p.QE623fs|KIRREL2_ENST00000586102.2_3'UTR	NM_199179.2	NP_954648.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	0					cell adhesion	integral to membrane|plasma membrane		p.W624R(1)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CATCTTTCCAATGGAAGAGTCC	0.559													45	116	---	---	---	---					
