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
SLCO6A1	133482	broad.mit.edu	37	5	101755667	101755667	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:101755667G>T	ENST00000506729.1	-	8	1506	c.1335C>A	c.(1333-1335)tcC>tcA	p.S445S	SLCO6A1_ENST00000389019.3_Silent_p.S383S|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Silent_p.S445S|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	445						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTTCTAATGTGGAAACAATGA	0.353000													12	30					7.93312e-07	8.87123e-07	1	1	0
PCDHGB7	56099	broad.mit.edu	37	5	140799829	140799829	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:140799829G>A	ENST00000398594.2	+	1	2403	c.2403G>A	c.(2401-2403)aaG>aaA	p.K801K	PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATAAGAAGATTCTTAAAC	0.313000													13	55					0	0	1	0	0
MFAP3L	9848	broad.mit.edu	37	4	170913338	170913338	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:170913338G>C	ENST00000361618.3	-	3	728	c.421C>G	c.(421-423)Cgc>Ggc	p.R141G	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.R38G	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	141	Ig-like C2-type.					integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		AAGATGACGCGCAAGGTCACC	0.532000													15	84					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84706466	84706466	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:84706466A>T	ENST00000286744.5	+	30	5208	c.4984A>T	c.(4984-4986)Aca>Tca	p.T1662S	ADAMTSL3_ENST00000567476.1_Intron	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1662	PLAC.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGCACAGACACAACTCACTA	0.338000													33	44					0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58556588	58556588	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:58556588C>G	ENST00000083182.3	-	4	711	c.424G>C	c.(424-426)Gtt>Ctt	p.V142L		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	142					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GACAGAAAAACTTTCTCAGCA	0.388000													21	51					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249876	140249876	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:140249876G>A	ENST00000398640.2	+	1	1188	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCAAGCTGGTGTCCACCT	0.607000													4	194					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66112392	66112392	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:66112392C>A	ENST00000503581.1	-	7	1700	c.1163G>T	c.(1162-1164)tGt>tTt	p.C388F	EYS_ENST00000393380.2_Missense_Mutation_p.C388F|EYS_ENST00000370616.2_Missense_Mutation_p.C388F|EYS_ENST00000342421.5_Missense_Mutation_p.C388F|EYS_ENST00000370618.3_Missense_Mutation_p.C388F|EYS_ENST00000370621.3_Missense_Mutation_p.C388F	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	388	EGF-like 5.				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						ATCTTTCTCACATTTCTTACA	0.284000													8	79					0.000274275	0.000291355	1	1	0
ATP1A2	477	broad.mit.edu	37	1	160105017	160105017	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:160105017A>T	ENST00000361216.3	+	15	2136	c.2047A>T	c.(2047-2049)Aca>Tca	p.T683S	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.T683S	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	683					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAAGAACCACACAGAGATCGT	0.582000													25	118					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552928	100552928	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:100552928C>A	ENST00000319509.7	+	2	1573	c.1573C>A	c.(1573-1575)Ctt>Att	p.L525I						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GTGTGCTTGCCTTCCGGGGTT	0.567000													15	125					2.35188e-11	2.91888e-11	1	1	0
ACSM2B	348158	broad.mit.edu	37	16	20554245	20554245	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:20554245G>T	ENST00000329697.6	-	12	1668	c.1500C>A	c.(1498-1500)gtC>gtA	p.V500V	ACSM2B_ENST00000565232.1_Silent_p.V500V|ACSM2B_ENST00000567001.1_Silent_p.V500V|ACSM2B_ENST00000565322.1_Silent_p.V421V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	500					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTCTCCTCGGACGGGGTCTG	0.552000													35	78					5.04308e-16	6.84474e-16	1	1	0
ATP13A3	79572	broad.mit.edu	37	3	194158090	194158090	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:194158090T>C	ENST00000439040.1	-	19	2740	c.1949A>G	c.(1948-1950)tAc>tGc	p.Y650C	ATP13A3_ENST00000256031.4_Missense_Mutation_p.Y650C			Q9H7F0	AT133_HUMAN	ATPase type 13A3	650					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TCCTTTCATGTAGGCGTCCAT	0.458000													26	151					0	0	1	0	0
PPTC7	160760	broad.mit.edu	37	12	110977727	110977727	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:110977727G>A	ENST00000354300.3	-	4	914	c.626C>T	c.(625-627)tCt>tTt	p.S209F		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	209	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						GACATCGAAAGACGTGCTATC	0.448000													18	48					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101243262	101243262	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:101243262G>C	ENST00000259455.2	-	5	1209	c.750C>G	c.(748-750)atC>atG	p.I250M	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	250					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGCCAAGGATGATCCGCACAT	0.463000													93	64					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113152505	113152505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:113152505C>A	ENST00000393845.2	-	2	73	c.7G>T	c.(7-9)Gaa>Taa	p.E3*	WDR52_ENST00000295868.2_Nonsense_Mutation_p.E3*|WDR52-AS1_ENST00000498480.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	3										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TCATCTGGTTCCTTCATTTCC	0.368000													62	87					5.98616e-33	9.48626e-33	1	1	0
CXorf57	55086	broad.mit.edu	37	X	105855778	105855778	+	Silent	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:105855778G>C	ENST00000372548.4	+	1	577	c.468G>C	c.(466-468)ggG>ggC	p.G156G	CXorf57_ENST00000372544.2_Silent_p.G156G	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	156										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TCCACTGTGGGGAGACTTCAG	0.453000													55	183					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13769486	13769486	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:13769486G>T	ENST00000279593.3	-	5	1440	c.1231C>A	c.(1231-1233)Ctg>Atg	p.L411M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	411					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCTCCTCCAGGGTCACAATG	0.512000													61	147					2.05175e-36	3.2934e-36	1	1	0
XPNPEP2	7512	broad.mit.edu	37	X	128876113	128876113	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:128876113G>T	ENST00000371106.3	+	2	271	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.D27Y	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	27					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AAAGCCAGTGGACCTTGGAGG	0.637000													14	75					1.99824e-07	2.26658e-07	1	1	0
PLCB1	23236	broad.mit.edu	37	20	8717711	8717711	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:8717711G>T	ENST00000378641.3	+	20	2555	c.2080G>T	c.(2080-2082)Ggg>Tgg	p.G694W	PLCB1_ENST00000378637.2_Missense_Mutation_p.G694W|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.G694W	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	694	C2.				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						TAAGAAAGTTGGGACTTACGT	0.353000													24	89					7.26314e-15	9.60324e-15	1	1	0
MAML2	84441	broad.mit.edu	37	11	95712160	95712160	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:95712160G>C	ENST00000524717.1	-	5	4707	c.3423C>G	c.(3421-3423)gaC>gaG	p.D1141E		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1141					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CTTTCATCCAGTCATCATTAC	0.383000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								8	25					0	0	1	0	0
NELFB	25920	broad.mit.edu	37	9	140150515	140150515	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:140150515G>A	ENST00000343053.4	+	2	596	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		GGGGAAGGCTGAGGAAAGGTG	0.627000													27	148					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88964600	88964600	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:88964600G>T	ENST00000237596.2	+	5	1376	c.1310G>T	c.(1309-1311)tGt>tTt	p.C437F	PKD2_ENST00000508588.1_5'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	437						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AACCTGTTCTGTGTGGTCAGG	0.468000													9	53					0.000673444	0.000709318	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215838681	215838681	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:215838681T>A	ENST00000272895.7	-	36	5773	c.5554A>T	c.(5554-5556)Aat>Tat	p.N1852Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.N1534Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1852					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACCTGGACATTTTCTGAGCAG	0.383000													15	84					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16529014	16529014	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:16529014C>A	ENST00000270747.3	-	13	2099	c.1963G>T	c.(1963-1965)Gac>Tac	p.D655Y	ARHGEF19_ENST00000421561.1_Intron|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	655	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCTCAGGTCCCGCACCTGC	0.672000													20	49					3.5997e-14	4.72359e-14	1	1	0
EMID1	129080	broad.mit.edu	37	22	29650277	29650277	+	Splice_Site	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:29650277G>T	ENST00000334018.6	+	14	1392		c.e14+1		EMID1_ENST00000404755.3_Splice_Site|EMID1_ENST00000404820.3_Intron	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1							collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GGGCTCTATGGTGAGTAGAGA	0.572000													24	62					1.66031e-10	2.00899e-10	1	1	0
SRPX2	27286	broad.mit.edu	37	X	99924308	99924308	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:99924308C>A	ENST00000373004.3	+	10	1587	c.1159C>A	c.(1159-1161)Cag>Aag	p.Q387K		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	387					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ACAGCCACCTCAGGAGGTGGG	0.592000													10	62					0.000978159	0.0010253	1	1	0
WDR89	112840	broad.mit.edu	37	14	64065999	64065999	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:64065999C>A	ENST00000394942.2	-	2	750	c.662G>T	c.(661-663)tGt>tTt	p.C221F	WDR89_ENST00000267522.3_Missense_Mutation_p.C221F	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	221										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CCAACCAATACAGCTTACTGA	0.373000													48	53					3.73128e-16	5.08015e-16	1	1	0
GRIP1	23426	broad.mit.edu	37	12	67072650	67072650	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:67072650A>T	ENST00000359742.4	-	1	275	c.35T>A	c.(34-36)aTt>aAt	p.I12N	GRIP1_ENST00000398016.3_Missense_Mutation_p.I12N|GRIP1_ENST00000286445.7_Missense_Mutation_p.I12N			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	12					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCGCCTCAGAATTTGACAACG	0.433000													11	70					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30186459	30186459	+	Splice_Site	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:30186459C>A	ENST00000397771.2	-	20	2278	c.2102_splice	c.e20+1	p.G701_splice	ASCC2_ENST00000542393.1_Splice_Site_p.G625_splice|ASCC2_ENST00000307790.3_Splice_Site_p.G701_splice			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	701					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			AATGCTCACCCTTTCTTGGCG	0.602000													11	35					0.00185496	0.00193503	1	1	0
AMZ2P1	201283	broad.mit.edu	37	17	62968778	62968778	+	RNA	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:62968778C>A	ENST00000430983.1	-	0	1466					NR_026903.1																						TTCAGGATGTCCCCTATTTAA	0.338000													22	23					6.33239e-15	8.41096e-15	1	1	0
N4BP2L2	10443	broad.mit.edu	37	13	33110371	33110371	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:33110371C>A	ENST00000267068.3	-	2	958	c.794G>T	c.(793-795)aGg>aTg	p.R265M	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.R265M|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	265										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CCATTCAGGCCTGAAAGAAGT	0.408000													40	40					2.26627e-22	3.34179e-22	1	1	0
CABIN1	23523	broad.mit.edu	37	22	24452752	24452752	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:24452752C>A	ENST00000398319.2	+	10	1576	c.1191C>A	c.(1189-1191)gtC>gtA	p.V397V	CABIN1_ENST00000263119.5_Silent_p.V397V|CABIN1_ENST00000405822.2_Silent_p.V347V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	397					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGCCCGTGTCCGAAACACCA	0.443000													21	130					2.64397e-27	4.04975e-27	1	1	0
OR8I2	120586	broad.mit.edu	37	11	55861499	55861499	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:55861499C>A	ENST00000302124.2	+	1	747	c.716C>A	c.(715-717)aCc>aAc	p.T239N	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCCTTCTCCACCTGCGCATCC	0.493000													31	137					1.06801e-11	1.33119e-11	1	1	0
ARHGEF40	55701	broad.mit.edu	37	14	21546418	21546418	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:21546418A>G	ENST00000298694.4	+	9	2244	c.2117A>G	c.(2116-2118)gAg>gGg	p.E706G	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E706G			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	706	Poly-Glu.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GGAGCAGCAGAGCCAGAGGAA	0.597000													4	24					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237955546	237955546	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:237955546G>C	ENST00000366574.2	+	94	14022	c.13705G>C	c.(13705-13707)Gag>Cag	p.E4569Q	RYR2_ENST00000360064.6_Missense_Mutation_p.E4575Q|RYR2_ENST00000542537.1_Missense_Mutation_p.E4553Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4569					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)			CGGCTACATGGAGCCCACGTT	0.458000													19	37					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103232996	103232996	+	Splice_Site	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:103232996C>G	ENST00000553106.1	-	13	1788	c.1315_splice	c.e13-1	p.S439_splice	PAH_ENST00000307000.2_Splice_Site_p.S434_splice	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	439					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TCCAATTTCACCTACAAAGAA	0.418000													11	46					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99941691	99941691	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:99941691A>T	ENST00000455616.1	-	13	1618	c.1272T>A	c.(1270-1272)taT>taA	p.Y424*	SYTL4_ENST00000263033.5_Nonsense_Mutation_p.Y424*|SYTL4_ENST00000276141.6_Nonsense_Mutation_p.Y424*|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000454200.2_Nonsense_Mutation_p.Y426*|SYTL4_ENST00000372989.1_Nonsense_Mutation_p.Y424*			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	424	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCGTCTCATCATATAGTGGAT	0.453000													5	25					0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172635070	172635070	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:172635070G>T	ENST00000367721.2	+	4	944	c.760G>T	c.(760-762)Gct>Tct	p.A254S	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	254					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TCTTACCAGTGCTGATCATTT	0.478000													39	67					4.32679e-17	5.98459e-17	1	1	0
G2E3	55632	broad.mit.edu	37	14	31058632	31058632	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:31058632G>T	ENST00000206595.6	+	4	333	c.179G>T	c.(178-180)gGa>gTa	p.G60V	G2E3_ENST00000553504.1_Missense_Mutation_p.G90V|G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Missense_Mutation_p.G14V	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	60					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GAAGAAGAAGGAGTTTATGGT	0.294000													39	43					1.12205e-10	1.37104e-10	1	1	0
WNK2	65268	broad.mit.edu	37	9	96051765	96051765	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:96051765G>T	ENST00000297954.4	+	20	4840	c.4840G>T	c.(4840-4842)Gag>Tag	p.E1614*	WNK2_ENST00000349097.3_Nonsense_Mutation_p.E1226*|WNK2_ENST00000427277.2_Nonsense_Mutation_p.E1189*|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Nonsense_Mutation_p.E1577*|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1614					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GACCCCTGTGGAGGTGGGCGA	0.662000													12	9					0.00010058	0.00010803	1	1	0
ADPRH	141	broad.mit.edu	37	3	119306579	119306579	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:119306579G>C	ENST00000478399.1	+	4	2333	c.928G>C	c.(928-930)Gct>Cct	p.A310P	ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000357003.3_Missense_Mutation_p.A310P|ADPRH_ENST00000465513.1_Missense_Mutation_p.A310P|ADPRH_ENST00000478927.1_Missense_Mutation_p.A310P			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	310					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AGCTGCCATTGCTGGCTGCTG	0.512000													47	81					0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112915756	112915756	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:112915756G>A	ENST00000351677.2	+	9	1227	c.1029G>A	c.(1027-1029)cgG>cgA	p.R343R	PTPN11_ENST00000392597.1_Silent_p.R343R	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	343	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ACTTTTGGCGGATGGTGTTCC	0.418000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				14	36					0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131495720	131495720	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:131495720G>T	ENST00000291900.2	-	15	2634	c.2228C>A	c.(2227-2229)aCc>aAc	p.T743N		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	743					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CATTTCCTTGGTCTCCTGCCG	0.562000											OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	33					3.62473e-10	4.35569e-10	1	1	0
PRPF8	10594	broad.mit.edu	37	17	1577912	1577912	+	Silent	SNP	C	C	T	rs147732031		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:1577912C>T	ENST00000572621.1	-	20	3388	c.3123G>A	c.(3121-3123)gtG>gtA	p.V1041V	PRPF8_ENST00000304992.6_Silent_p.V1041V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1041						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CATAATACTGCACGATGAATG	0.468000													56	131					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36491519	36491519	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:36491519A>T	ENST00000342292.4	-	6	1381	c.1361T>A	c.(1360-1362)cTg>cAg	p.L454Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	454						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGCAAAACCCAGCAGCCGCAC	0.547000													12	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179501451	179501451	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:179501451G>T	ENST00000589042.1	-	225	41227	c.41003C>A	c.(41002-41004)cCt>cAt	p.P13668H	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P12027H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4728H|TTN_ENST00000460472.2_Missense_Mutation_p.P4603H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P11100H|TTN_ENST00000342175.6_Missense_Mutation_p.P4795H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12027	Ig-like 93.						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)			TTCATCAGGAGGTTTCTCTCC	0.428000													16	25					8.60227e-14	1.11868e-13	1	1	0
LMTK2	22853	broad.mit.edu	37	7	97766717	97766717	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:97766717G>T	ENST00000297293.5	+	2	487	c.194G>T	c.(193-195)tGt>tTt	p.C65F	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	65					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATTGCAAACTGTGTATCCTGC	0.398000													23	80					8.24728e-16	1.1107e-15	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57181564	57181564	+	Silent	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:57181564C>G	ENST00000504228.1	+	6	2001	c.1896C>G	c.(1894-1896)gcC>gcG	p.A632A	KIAA1211_ENST00000264229.6_Silent_p.A632A|KIAA1211_ENST00000541073.1_Silent_p.A625A			Q6ZU35	K1211_HUMAN	KIAA1211	632										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)					ACGCGGAAGCCCCAGCTGGGG	0.711000													4	16					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606605	55606605	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:55606605G>A	ENST00000378396.1	+	1	378	c.378G>A	c.(376-378)gtG>gtA	p.V126V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACCACTTTGTGGCCATTTGCA	0.448000													22	69					0	0	1	0	0
DNAJC28	54943	broad.mit.edu	37	21	34861591	34861591	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr21:34861591T>C	ENST00000314399.3	-	2	548	c.110A>G	c.(109-111)aAt>aGt	p.N37S	DNAJC28_ENST00000381947.3_Missense_Mutation_p.N37S|DNAJC28_ENST00000402202.1_Missense_Mutation_p.N37S	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	37							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CATCATTCTATTTCTAATGAT	0.378000													81	67					0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110454803	110454803	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:110454803T>A	ENST00000506538.2	+	17	2630	c.2057T>A	c.(2056-2058)cTt>cAt	p.L686H	WDR36_ENST00000513710.2_Missense_Mutation_p.L686H	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	686					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GTGGACCACCTTGGAATTTAT	0.398000													48	52					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17288868	17288868	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:17288868G>C	ENST00000331428.5	-	2	198	c.96C>G	c.(94-96)agC>agG	p.S32R		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	32						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TAAAAGGAAAGCTTAGATGGA	0.388000													27	50					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102053076	102053076	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:102053076G>C	ENST00000318222.3	-	10	2102	c.1720C>G	c.(1720-1722)Cag>Gag	p.Q574E	PKD2L1_ENST00000338519.3_Missense_Mutation_p.Q499E|PKD2L1_ENST00000353274.3_Missense_Mutation_p.Q574E	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	574					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCATCCTTCTGTCCAGCCAGC	0.507000													56	45					0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123848357	123848357	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:123848357C>T	ENST00000531945.1	-	1	131	c.42G>A	c.(40-42)acG>acA	p.T14T		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		TGGGGTTCTCCGTTGTCATGG	0.478000													67	105					0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45917054	45917054	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:45917054C>T	ENST00000185206.6	-	3	867	c.715G>A	c.(715-717)Gac>Aac	p.D239N	CLIC5_ENST00000339561.6_Missense_Mutation_p.D80N|CLIC5_ENST00000544153.1_Missense_Mutation_p.D80N	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	239					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GTCTTCACGTCCCCGTTGAAG	0.537000													52	93					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090198	34090198	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:34090198G>T	ENST00000373381.4	-	35	5722	c.5546C>A	c.(5545-5547)tCc>tAc	p.S1849Y	CSMD2_ENST00000373380.1_Missense_Mutation_p.S722Y|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1809	CUB 11.					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)				GAAGCCAGGGGACAGGATGGT	0.657000													11	60					5.16669e-11	6.35787e-11	1	1	0
ANK2	287	broad.mit.edu	37	4	114179230	114179230	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:114179230G>T	ENST00000357077.4	+	12	1266	c.1213G>T	c.(1213-1215)Gcc>Tcc	p.A405S	ANK2_ENST00000506722.1_Missense_Mutation_p.A384S|ANK2_ENST00000264366.6_Missense_Mutation_p.A405S|ANK2_ENST00000394537.3_Missense_Mutation_p.A405S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	405					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTGCACATTGCCTGCAAGAA	0.408000													19	70					2.98393e-07	3.37584e-07	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77761784	77761784	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:77761784G>T	ENST00000521891.2	+	8	4130	c.3682G>T	c.(3682-3684)Gac>Tac	p.D1228Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1183Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1202Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1183Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1183						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)			CAATAGTAGGGACCAAAGTCG	0.413000										HNSCC(33;0.089)			40	62					8.48111e-28	1.30363e-27	1	1	0
SCYL2	55681	broad.mit.edu	37	12	100717320	100717320	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:100717320C>T	ENST00000360820.2	+	11	1850	c.1413C>T	c.(1411-1413)atC>atT	p.I471I		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	471					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GTCTAAACATCATTCCAACCT	0.343000													6	40					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:7578395G>A	ENST00000420246.2	-	5	667	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642000		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)			31	35					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176305105	176305105	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:176305105C>A	ENST00000329542.4	+	11	2120	c.1846C>A	c.(1846-1848)Cat>Aat	p.H616N	UNC5A_ENST00000261961.3_Missense_Mutation_p.H576N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	616	Interaction with DCC (By similarity).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACTGCCTGCATGACACCCA	0.667000													28	24					1.13719e-10	1.38371e-10	1	1	0
MCHR1	2847	broad.mit.edu	37	22	41077314	41077314	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:41077314C>A	ENST00000249016.4	+	2	1347	c.651C>A	c.(649-651)ccC>ccA	p.P217P	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	217					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CTGTCCACCCCATCTCTTCCA	0.592000													42	136					4.18559e-23	6.2141e-23	1	1	0
ANK2	287	broad.mit.edu	37	4	114277345	114277345	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:114277345A>T	ENST00000357077.4	+	38	7624	c.7571A>T	c.(7570-7572)cAg>cTg	p.Q2524L	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.Q2491L|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2491					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTCTTGAGCAGACATCGCTC	0.552000													26	127					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122648616	122648616	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:122648616C>T	ENST00000263461.6	+	17	2394	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	716						integral to membrane		p.I716I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTACCTGCATCGCTTGGAAAG	0.323000													18	131					0	0	1	0	0
ABHD4	63874	broad.mit.edu	37	14	23070661	23070661	+	Splice_Site	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:23070661G>T	ENST00000428304.2	+	2	182		c.e2+1		ABHD4_ENST00000544562.1_Splice_Site	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4						lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		ATCCTCCAGTGTAAGTAGAAT	0.552000													11	41					1.58986e-06	1.75754e-06	1	1	0
FLG	2312	broad.mit.edu	37	1	152284263	152284263	+	Missense_Mutation	SNP	G	G	T	rs146128865	byFrequency	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:152284263G>T	ENST00000368799.1	-	3	3134	c.3099C>A	c.(3097-3099)caC>caA	p.H1033Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1033	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)			GGCGGGATCCGTGTCTTTCTC	0.567000									Ichthyosis				130	577					1.904e-90	3.22901e-90	1	1	0
KIAA0586	9786	broad.mit.edu	37	14	58937330	58937330	+	Splice_Site	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:58937330G>C	ENST00000423743.3	+	18	2568		c.e18-1		KIAA0586_ENST00000538571.2_Splice_Site|KIAA0586_ENST00000556134.1_Splice_Site|KIAA0586_ENST00000354386.6_Splice_Site|KIAA0586_ENST00000261244.5_Splice_Site	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586											endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCTGTTTTAGGTATTACCCA	0.343000													15	24					0	0	1	0	0
MAGED2	10916	broad.mit.edu	37	X	54839946	54839946	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:54839946G>T	ENST00000375068.1	+	10	1467	c.1234G>T	c.(1234-1236)Gtg>Ttg	p.V412L	MAGED2_ENST00000375053.2_Missense_Mutation_p.V412L|MAGED2_ENST00000375058.1_Missense_Mutation_p.V412L|MAGED2_ENST00000375060.1_Missense_Mutation_p.V327L|MAGED2_ENST00000218439.4_Missense_Mutation_p.V412L|MAGED2_ENST00000375062.4_Missense_Mutation_p.V327L|MAGED2_ENST00000343474.6_Missense_Mutation_p.V394L|MAGED2_ENST00000396224.1_Missense_Mutation_p.V412L|MAGED2_ENST00000347546.3_Missense_Mutation_p.V356L			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	412	MAGE.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CTTTGGGGACGTGAAGAAGCT	0.403000													14	76					6.72482e-11	8.24028e-11	1	1	0
DNAJC13	23317	broad.mit.edu	37	3	132233471	132233471	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:132233471G>T	ENST00000260818.6	+	46	5690	c.5442G>T	c.(5440-5442)atG>atT	p.M1814I		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1814							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CTGAATCAATGGTTTTGTCCA	0.343000													11	90					1.5739e-10	1.90975e-10	1	1	0
R3HCC1L	27291	broad.mit.edu	37	10	99968826	99968826	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:99968826G>C	ENST00000298999.3	+	5	1258	c.955G>C	c.(955-957)Gag>Cag	p.E319Q	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.E319Q|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		CTCTCTGTCAGAGAGCACAAA	0.408000													44	102					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86539254	86539254	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:86539254C>A	ENST00000450689.2	-	16	2418	c.2233G>T	c.(2233-2235)Ggg>Tgg	p.G745W	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G578W|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G505W|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G674W	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	745						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)					TCATCTGACCCTGCCACTATT	0.378000													33	62					4.65686e-17	6.42072e-17	1	1	0
MCMDC2	157777	broad.mit.edu	37	8	67813571	67813571	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:67813571C>T	ENST00000422365.2	+	13	1928	c.1757C>T	c.(1756-1758)gCa>gTa	p.A586V	MCMDC2_ENST00000396592.3_Missense_Mutation_p.A586V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A523V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A586V	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	586					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TCAGCATCTGCATTAAAATAT	0.338000													11	78					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475195	17475195	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:17475195C>A	ENST00000377873.3	-	8	1561	c.1522G>T	c.(1522-1524)Ggc>Tgc	p.G508C	BFSP1_ENST00000544874.1_Missense_Mutation_p.G369C|BFSP1_ENST00000536626.1_Missense_Mutation_p.G369C|BFSP1_ENST00000377868.2_Missense_Mutation_p.G383C	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	508	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TCCACCTGGCCGTCATAAAGC	0.542000													19	41					2.4624e-09	2.92263e-09	1	1	0
TRIM58	25893	broad.mit.edu	37	1	248028108	248028108	+	Silent	SNP	G	G	A	rs147052726		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:248028108G>A	ENST00000366481.3	+	3	666	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	206						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)			GGCTGGAGGCGGAGGAGCGAG	0.622000													8	36					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751494	33751494	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:33751494T>C	ENST00000515401.1	-	3	811	c.649A>G	c.(649-651)Atg>Gtg	p.M217V	ADAMTS12_ENST00000504582.1_Intron|ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504830.1_Intron			P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	0					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAGGAGGACATGTGAGTCACA	0.418000										HNSCC(64;0.19)			29	57					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36162923	36162923	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:36162923C>T	ENST00000378660.1	+	11	1694	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	CHDC2_ENST00000313548.4_Silent_p.I502I					calponin homology domain containing 2																		ccttggacatctgattccagg	0.453000													8	38					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184098578	184098578	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:184098578G>C	ENST00000204604.1	+	2	493	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	CHRD_ENST00000310236.3_Missense_Mutation_p.E83Q|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.E83Q|CHRD_ENST00000450923.1_Missense_Mutation_p.E83Q	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	83	VWFC 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGCGCCTGCGAGGCGGTGAG	0.731000													11	37					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104340609	104340609	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:104340609T>C	ENST00000299767.5	+	16	2334	c.2152T>C	c.(2152-2154)Ttt>Ctt	p.F718L		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	718					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TGTGGTTTTGTTTGAAACAGC	0.363000													9	58					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100491183	100491183	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:100491183A>T	ENST00000279907.7	-	6	841	c.629T>A	c.(628-630)aTa>aAa	p.I210K	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.I210K	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	210										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTGGTTGGTTATTAATCGAAC	0.333000													8	40					0	0	1	0	0
EID2	163126	broad.mit.edu	37	19	40030362	40030362	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:40030362C>A	ENST00000390658.2	-	1	508	c.358G>T	c.(358-360)Ggt>Tgt	p.G120C		NM_153232.3	NP_694964.3	Q8N6I1	EID2_HUMAN	EP300 interacting inhibitor of differentiation 2	120					cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding			large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CCCTCGGGACCCTCTTCGTCC	0.701000													79	89					9.04243e-43	1.47321e-42	1	1	0
THSD7B	80731	broad.mit.edu	37	2	138320915	138320915	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:138320915G>T	ENST00000409968.1	+	16	3441	c.3263G>T	c.(3262-3264)aGg>aTg	p.R1088M	THSD7B_ENST00000413152.2_Missense_Mutation_p.R1060M|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1091M|THSD7B_ENST00000543459.1_Intron					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)		ACACAATCTAGGAAAATCAGG	0.408000													16	21					1.3612e-06	1.51052e-06	1	1	0
FPR1	2357	broad.mit.edu	37	19	52249251	52249251	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:52249251C>A	ENST00000595042.1	-	3	1138	c.997G>T	c.(997-999)Gac>Tac	p.D333Y	FPR1_ENST00000304748.4_Missense_Mutation_p.D333Y	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	333					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTAGCTGTGTCACTGGTTTGG	0.582000													56	70					6.05568e-20	8.63679e-20	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58208724	58208724	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:58208724C>A	ENST00000377918.3	+	1	2070	c.2044C>A	c.(2044-2046)Cgc>Agc	p.R682S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	682	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCTCATCATCCGCTCGGTGAG	0.637000													46	55					2.74695e-27	4.20009e-27	1	1	0
CLASRP	11129	broad.mit.edu	37	19	45567405	45567405	+	Silent	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:45567405A>G	ENST00000544944.2	+	11	1733	c.1041A>G	c.(1039-1041)gcA>gcG	p.A347A	CLASRP_ENST00000221455.3_Silent_p.A347A|CLASRP_ENST00000391953.4_Silent_p.A285A			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	347					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CTGCCGCAGCAGCATCAGGAG	0.716000													5	20					0	0	1	0	0
CHM	1121	broad.mit.edu	37	X	85119680	85119680	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:85119680G>T	ENST00000357749.2	-	15	1946	c.1917C>A	c.(1915-1917)ttC>ttA	p.F639L	CHM_ENST00000537751.1_Missense_Mutation_p.F491L|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	639					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGCTTTCCTTGAAAGTCTCCG	0.458000													11	22					2.68362e-12	3.38861e-12	1	1	0
EPHA6	285220	broad.mit.edu	37	3	97467452	97467452	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:97467452C>T	ENST00000389672.5	+	18	3338	c.3300C>T	c.(3298-3300)gtC>gtT	p.V1100V		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	1005						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAATTGGAGTCATACTTATTG	0.413000													17	19					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175809	55175809	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:55175809C>A	ENST00000391736.1	+	6	843	c.528C>A	c.(526-528)caC>caA	p.H176Q	LILRB4_ENST00000270452.2_Missense_Mutation_p.H176Q|LILRB4_ENST00000391733.3_Missense_Mutation_p.H176Q|LILRB4_ENST00000391734.3_Missense_Mutation_p.H176Q|LILRB4_ENST00000430952.2_Missense_Mutation_p.H176Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	176	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CTCAGCAGCACCAGGCTGAAT	0.587000													41	46					2.40228e-13	3.10547e-13	1	1	0
MAOA	4128	broad.mit.edu	37	X	43592026	43592026	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:43592026C>A	ENST00000338702.3	+	9	1159	c.1036C>A	c.(1036-1038)Ctg>Atg	p.L346M	MAOA_ENST00000542639.1_Missense_Mutation_p.L213M	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	346					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	AGATGGGTCACTGCCTGCCAT	0.418000													28	134					8.16721e-17	1.12251e-16	1	1	0
SPESP1	246777	broad.mit.edu	37	15	69238280	69238280	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:69238280A>G	ENST00000310673.3	+	2	561	c.407A>G	c.(406-408)gAg>gGg	p.E136G	NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	136					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TTGCATGCAGAGGAACCTTAT	0.443000													10	29					0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460651	1460651	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:1460651G>T	ENST00000537284.1	-	0	198				SIRPB2_ENST00000381630.1_Missense_Mutation_p.L49M|SIRPB2_ENST00000444444.1_Missense_Mutation_p.L49M|SIRPB2_ENST00000359801.3_Missense_Mutation_p.L49M			Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2							integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTGCCACCAGCATGGGGCCC	0.547000													31	57					3.99451e-17	5.53379e-17	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111138181	111138181	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:111138181C>T	ENST00000360467.5	+	34	3511	c.3205C>T	c.(3205-3207)Cgg>Tgg	p.R1069W		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1069	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CATAGGAAGCCGGGTGAGTGG	0.572000													8	31					0	0	1	0	0
STX5	6811	broad.mit.edu	37	11	62595032	62595032	+	Splice_Site	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:62595032C>A	ENST00000294179.3	-	3	450		c.e3+1		STX5_ENST00000377897.4_Splice_Site|STX5_ENST00000541317.1_Splice_Site|STX5_ENST00000394690.1_Splice_Site	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5						intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TCTCAACTCACTTGGCCATGA	0.483000													18	84					1.00905e-13	1.3083e-13	1	1	0
IGSF3	3321	broad.mit.edu	37	1	117142849	117142849	+	Silent	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:117142849T>A	ENST00000369486.3	-	7	2508	c.1743A>T	c.(1741-1743)acA>acT	p.T581T	IGSF3_ENST00000369483.1_Silent_p.T601T|IGSF3_ENST00000318837.6_Silent_p.T601T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	581	Ig-like C2-type 5.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGAACCGCCATGTCACCGACA	0.632000													10	29					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138884472	138884472	+	Silent	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:138884472A>T	ENST00000370557.1	-	7	1609	c.582T>A	c.(580-582)atT>atA	p.I194I	ATP11C_ENST00000359686.2_Silent_p.I197I|ATP11C_ENST00000361648.2_Silent_p.I197I|ATP11C_ENST00000327569.3_Silent_p.I197I|ATP11C_ENST00000370543.1_Silent_p.I197I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	197					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TACACAGTGCAATGGTATCAC	0.393000													62	91					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813842	158813842	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:158813842C>A	ENST00000368141.4	+	4	761	c.500C>A	c.(499-501)tCt>tAt	p.S167Y		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	167					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GCCAGCACATCTGCAGCTGTG	0.493000													39	199					1.00776e-21	1.46613e-21	1	1	0
GPR34	2857	broad.mit.edu	37	X	41554925	41554925	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:41554925C>T	ENST00000378142.4	+	3	323	c.39C>T	c.(37-39)gtC>gtT	p.V13V	CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Silent_p.V13V|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000442742.2_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	13						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V13V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CAACTTCAGTCAGCAGCTGGC	0.423000													22	132					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117227796	117227796	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:117227796A>T	ENST00000003084.6	+	12	1720	c.1588A>T	c.(1588-1590)Atc>Ttc	p.I530F	CFTR_ENST00000454343.1_Missense_Mutation_p.I469F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	530	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTAATAGGACATCTCCAAGTT	0.358000									Cystic Fibrosis				17	49					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165969401	165969401	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:165969401G>C	ENST00000360093.3	-	21	4328	c.3837C>G	c.(3835-3837)atC>atG	p.I1279M	SCN3A_ENST00000409101.3_Missense_Mutation_p.I1230M|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1279M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1279						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTACATCAACGATCAAGAAAT	0.289000													18	157					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113352887	113352887	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:113352887G>T	ENST00000458497.1	+	11	2463	c.2184G>T	c.(2182-2184)agG>agT	p.R728S	ALPK1_ENST00000177648.9_Missense_Mutation_p.R728S|ALPK1_ENST00000504176.2_Missense_Mutation_p.R650S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	728							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ATTCTGGTAGGCCCAAGAATA	0.448000													14	47					1.5739e-10	1.90975e-10	1	1	0
LRRTM3	347731	broad.mit.edu	37	10	68687038	68687038	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:68687038T>A	ENST00000361320.4	+	2	942	c.364T>A	c.(364-366)Tcc>Acc	p.S122T	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	122						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAATAGAATCTCCTATTTTCT	0.393000													74	81					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134257515	134257515	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:134257515G>A	ENST00000524765.1	-	2	4583	c.39C>T	c.(37-39)atC>atT	p.I13I	B3GAT1_ENST00000392580.1_Silent_p.I13I|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000312527.4_Silent_p.I13I|B3GAT1_ENST00000537389.1_Silent_p.I26I			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	13					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		AGGGCAGCACGATGAGGACGA	0.622000													39	68					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963447	88963447	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:88963447T>A	ENST00000333190.4	+	4	1760	c.1151T>A	c.(1150-1152)cTg>cAg	p.L384Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	384						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCTGAATGCCTGGATGAGTTT	0.383000										HNSCC(36;0.09)			12	47					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022417	6022417	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:6022417G>A	ENST00000378858.4	-	5	1698	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	492						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CTTATGCTGCGGTCCCACGAG	0.637000													75	146					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149267633	149267633	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:149267633G>A	ENST00000407073.1	+	14	5339	c.4342G>A	c.(4342-4344)Gga>Aga	p.G1448R	MBD5_ENST00000404807.1_Missense_Mutation_p.G1681R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1448						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTCCAGAAGTGGAAAGCTAAA	0.308000											OREG0015006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	36					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16177269	16177269	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:16177269C>G	ENST00000399408.2	+	17	2337	c.2162C>G	c.(2161-2163)tCt>tGt	p.S721C	ABCC1_ENST00000399410.3_Missense_Mutation_p.S721C|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000345148.5_Missense_Mutation_p.S721C|ABCC1_ENST00000346370.5_Missense_Mutation_p.S721C|ABCC1_ENST00000351154.5_Intron			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	721	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CAGAATGATTCTCTCCGAGAA	0.517000													19	87					0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57643990	57643990	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:57643990G>A	ENST00000251241.4	+	2	262	c.115G>A	c.(115-117)Gag>Aag	p.E39K	DHX40_ENST00000425628.3_Missense_Mutation_p.E39K|DHX40_ENST00000451169.2_5'UTR	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	39							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TATTACAGAAGAGAAAGGATG	0.358000													4	25					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668532	176668532	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:176668532G>T	ENST00000367662.3	+	8	4207	c.3043G>T	c.(3043-3045)Ggg>Tgg	p.G1015W		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1015					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						GCACGTGGATGGGAAGGTGTC	0.522000													84	130					4.34595e-34	6.93757e-34	1	1	0
POLR3B	55703	broad.mit.edu	37	12	106821066	106821066	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:106821066C>A	ENST00000228347.4	+	13	1415	c.1193C>A	c.(1192-1194)gCc>gAc	p.A398D	POLR3B_ENST00000539066.1_Missense_Mutation_p.A340D	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	398					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAAAGAGCAGCCCAGTTTGAT	0.368000													20	72					3.62473e-10	4.35569e-10	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3238165	3238165	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:3238165T>A	ENST00000217939.6	-	5	5715	c.5561A>T	c.(5560-5562)cAa>cTa	p.Q1854L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1854	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTGAGGATTTGTGGCTTTTC	0.522000													14	89					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101091751	101091751	+	Silent	SNP	A	A	G	rs150060771		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:101091751A>G	ENST00000361708.2	-	16	1494	c.1135T>C	c.(1135-1137)Ttg>Ctg	p.L379L	NXF5_ENST00000473265.2_Intron|NXF5_ENST00000537026.1_Intron			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	379					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CATGAAGGCAAGATCAGAACC	0.522000													87	120					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76576707	76576707	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:76576707G>T	ENST00000369981.3	+	18	2108	c.1829G>T	c.(1828-1830)tGt>tTt	p.C610F	MYO6_ENST00000369985.4_Missense_Mutation_p.C610F|MYO6_ENST00000369975.1_Missense_Mutation_p.C610F|MYO6_ENST00000369977.3_Missense_Mutation_p.C610F			Q9UM54	MYO6_HUMAN	myosin VI	610	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TCCTTAATATGTGAATCCAGA	0.328000													17	35					9.16793e-09	1.08077e-08	1	1	0
IGHV1-58	28464	broad.mit.edu	37	14	107078644	107078644	+	RNA	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:107078644C>A	ENST00000390628.2	-	0	140																											CACCTCAGGCCCAGACTGCAC	0.562000													29	85					3.73148e-12	4.6981e-12	1	1	0
LEPRE1	64175	broad.mit.edu	37	1	43218019	43218019	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:43218019C>T	ENST00000236040.4	-	10	1535	c.1495G>A	c.(1495-1497)Ggc>Agc	p.G499S	LEPRE1_ENST00000397054.3_Missense_Mutation_p.G499S|LEPRE1_ENST00000296388.5_Missense_Mutation_p.G499S	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	499					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCCCGGTAGCCATCTCCTGAG	0.522000													19	61					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49086701	49086701	+	Silent	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:49086701C>G	ENST00000376265.2	-	6	859	c.798G>C	c.(796-798)acG>acC	p.T266T	CACNA1F_ENST00000323022.5_Silent_p.T266T|CACNA1F_ENST00000376251.1_Silent_p.T201T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	266					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GGAAGTAGCACGTCTTGTGCA	0.562000													3	20					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053320	50053320	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:50053320C>G	ENST00000376042.1	+	6	2449	c.2151C>G	c.(2149-2151)agC>agG	p.S717R	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S717R			Q8WWL7	CCNB3_HUMAN	cyclin B3	717					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)					AGGAGAAAAGCACCATGGAAG	0.453000													9	50					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130535492	130535492	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:130535492C>A	ENST00000532763.1	-	3	388	c.259G>T	c.(259-261)Gca>Tca	p.A87S	SAMD3_ENST00000437477.2_Missense_Mutation_p.A87S|SAMD3_ENST00000324172.6_Missense_Mutation_p.A87S|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000457563.2_Missense_Mutation_p.A111S|SAMD3_ENST00000439090.2_Missense_Mutation_p.A87S|SAMD3_ENST00000368134.2_Missense_Mutation_p.A87S			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	87										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TCTCGAGCTGCTTCTGTTTGC	0.433000													51	101					5.82218e-30	9.12666e-30	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33564071	33564071	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:33564071C>T	ENST00000321505.4	+	1	251	c.71C>T	c.(70-72)tCa>tTa	p.S24L	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.S24L|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S24L					KIAA1549-like																		TCTGGATCCTCAACAAAATGG	0.507000													4	54					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748895	152748895	+	Nonsense_Mutation	SNP	C	C	A	rs115678527	by1000genomes	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:152748895C>A	ENST00000334371.2	+	1	48	c.48C>A	c.(46-48)tgC>tgA	p.C16*		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	16	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctcccaagtgcactcccaagt	0.627000													17	104					2.48551e-13	3.20829e-13	1	1	0
CUBN	8029	broad.mit.edu	37	10	17171714	17171714	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:17171714T>C	ENST00000377833.4	-	1	116	c.51A>G	c.(49-51)atA>atG	p.I17M	CUBN_ENST00000377823.1_Missense_Mutation_p.I17M	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	17					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCAGCAAATATTAATAAGG	0.433000													46	52					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94063719	94063719	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:94063719G>T	ENST00000553484.1	+	24	3359	c.3205G>T	c.(3205-3207)Gta>Tta	p.V1069L	UNC79_ENST00000393151.2_Missense_Mutation_p.V1069L|UNC79_ENST00000256339.4_Missense_Mutation_p.V892L|UNC79_ENST00000555664.1_Missense_Mutation_p.V1069L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1069						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAAAGTTGCTGTAATTTGTAG	0.428000													39	130					2.215e-12	2.80095e-12	1	1	0
USH2A	7399	broad.mit.edu	37	1	216219841	216219841	+	Missense_Mutation	SNP	G	G	C	rs149202379	byFrequency	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:216219841G>C	ENST00000366943.2	-	32	6643	c.6257C>G	c.(6256-6258)aCt>aGt	p.T2086S	USH2A_ENST00000307340.3_Missense_Mutation_p.T2086S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2086	Fibronectin type-III 7.		T -> N.		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)		ACAGTACTGAGTTATAATACC	0.463000										HNSCC(13;0.011)			16	92					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12768896	12768896	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:12768896G>A	ENST00000456935.2	-	10	1330	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	MAN2B1_ENST00000221363.4_Silent_p.S429S|MAN2B1_ENST00000495617.1_Intron	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	430					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CACTGTCTCCGGAGCCATAGG	0.657000													7	25					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114453661	114453661	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:114453661A>G	ENST00000375478.3	-	3	359	c.179T>C	c.(178-180)aTa>aCa	p.I60T	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		CTTTAATGATATCAGTGGTGT	0.423000													6	152					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4207920	4207920	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:4207920C>G	ENST00000600132.1	+	10	1063	c.787C>G	c.(787-789)Ctg>Gtg	p.L263V	ANKRD24_ENST00000262970.5_Missense_Mutation_p.L353V|ANKRD24_ENST00000318934.4_Missense_Mutation_p.L263V	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	263										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CAAACTCATCCTGCACCTTCT	0.662000											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	15					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150509009	150509009	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:150509009A>T	ENST00000354546.5	-	12	1104	c.877T>A	c.(877-879)Ttc>Atc	p.F293I	ANXA6_ENST00000521512.1_Missense_Mutation_p.F86I|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.F261I|ANXA6_ENST00000356496.5_Missense_Mutation_p.F293I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	293						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGTCCGGAAGATCTCCCGA	0.547000													5	20					0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811671	7811671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:7811671C>T	ENST00000381059.3	+	3	454	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	VCX_ENST00000341408.4_Nonsense_Mutation_p.Q79*	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	79					chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CCCCAGCGACCAGCCCAGCCA	0.711000													4	35					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101442141	101442141	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:101442141G>A	ENST00000392979.3	+	13	1530	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	ANO4_ENST00000550015.1_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.G425E|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	425						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTGACAATGGAGCCACTGTC	0.343000										HNSCC(74;0.22)			16	54					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30777537	30777537	+	Silent	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:30777537T>A	ENST00000324685.6	+	9	1482	c.1047T>A	c.(1045-1047)cgT>cgA	p.R349R	RNF40_ENST00000563683.1_Intron|RNF40_ENST00000357890.5_Intron|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	349					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CCAACAGCCGTATGGCAGAGC	0.607000													37	110					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	954879	954879	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:954879G>T	ENST00000273814.3	-	22	2758	c.2685C>A	c.(2683-2685)gtC>gtA	p.V895V		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	895					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCGGGGCCTGGACCCAGGGCT	0.692000													10	29					4.68919e-08	5.4106e-08	1	1	0
PLCZ1	89869	broad.mit.edu	37	12	18889208	18889208	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:18889208G>T	ENST00000266505.7	-	3	345	c.82C>A	c.(82-84)Ctt>Att	p.L28I	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L28I|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L26I|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L26I			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	28					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AATTTTTCAAGTAACCTCTGA	0.353000													19	70					1.33834e-09	1.59719e-09	1	1	0
MED12	9968	broad.mit.edu	37	X	70352293	70352293	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:70352293G>C	ENST00000333646.6	+	31	4519	c.4320G>C	c.(4318-4320)caG>caC	p.Q1440H	MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Missense_Mutation_p.Q1440H|MED12_ENST00000374080.3_Missense_Mutation_p.Q1440H	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1440					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCTCAGTCCAGGGACATGTGT	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						14	26					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900818	123900818	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:123900818C>G	ENST00000431524.1	+	1	522	c.489C>G	c.(487-489)ttC>ttG	p.F163L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		TATTGACTTTCCATTTGCCCT	0.552000													6	182					0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15342892	15342892	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:15342892C>A	ENST00000333590.4	-	5	1167	c.1083G>T	c.(1081-1083)aaG>aaT	p.K361N	PIGA_ENST00000428964.1_Missense_Mutation_p.K46N|PIGA_ENST00000542278.1_Missense_Mutation_p.K127N|PIGA_ENST00000482148.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	361					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)					GGAAAATAGCCTTTTCCAATC	0.398000													29	111					3.73148e-12	4.6981e-12	1	1	0
CRY1	1407	broad.mit.edu	37	12	107395551	107395551	+	Nonsense_Mutation	SNP	C	C	A	rs146335177		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:107395551C>A	ENST00000008527.5	-	4	1453	c.586G>T	c.(586-588)Gaa>Taa	p.E196*		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	196					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CCTAGCTCTTCCAGTGAAGGG	0.378000													35	128					9.39024e-22	1.37072e-21	1	1	0
CXorf38	159013	broad.mit.edu	37	X	40495907	40495907	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:40495907C>T	ENST00000378426.1	-	4	919	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	CXorf38_ENST00000327877.5_Missense_Mutation_p.E227K|CXorf38_ENST00000440784.2_Missense_Mutation_p.E142K|CXorf38_ENST00000378421.1_Missense_Mutation_p.E108K			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	227										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						ATTTCACATTCACACCCATCT	0.423000													6	25					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101480504	101480504	+	Missense_Mutation	SNP	G	G	C	rs150353677	byFrequency	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:101480504G>C	ENST00000392979.3	+	16	1859	c.1498G>C	c.(1498-1500)Gct>Cct	p.A500P	ANO4_ENST00000550015.1_Missense_Mutation_p.A55P|ANO4_ENST00000392977.3_Missense_Mutation_p.A535P|ANO4_ENST00000299222.9_Missense_Mutation_p.A55P	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	535						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAGCACTTTCGCTGCCTTTAA	0.502000										HNSCC(74;0.22)			5	267					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596985	179596985	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:179596985G>T	ENST00000589042.1	-	57	16935	c.16711C>A	c.(16711-16713)Cct>Act	p.P5571T	TTN_ENST00000591111.1_Missense_Mutation_p.P5254T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P4327T|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5254	Ig-like 36.						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)			TTAATTGGAGGGGTACCAGTT	0.428000													30	149					1.13719e-10	1.38371e-10	1	1	0
AASDHPPT	60496	broad.mit.edu	37	11	105948473	105948473	+	Silent	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:105948473A>G	ENST00000278618.4	+	1	258	c.36A>G	c.(34-36)ccA>ccG	p.P12P	KBTBD3_ENST00000531837.1_5'UTR	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	12					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GCTTGGTGCCATCCATGGAGG	0.642000													19	55					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101736126	101736126	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:101736126T>G	ENST00000251127.6	-	31	3600	c.3519A>C	c.(3517-3519)agA>agC	p.R1173S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1173						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)					CTTCCCATCTTCTCTGATCGA	0.507000													10	36					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31349749	31349749	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:31349749C>A	ENST00000597505.1	-	1	78	c.79G>T	c.(79-81)Gta>Tta	p.V27L	DCDC1_ENST00000452803.1_Missense_Mutation_p.V27L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	27					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGCTGTAATACTTCCATTGCT	0.358000													28	52					5.45727e-16	7.36097e-16	1	1	0
NOMO3	408050	broad.mit.edu	37	16	16357064	16357064	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:16357064C>G	ENST00000399336.4	+	13	1701	c.1529C>G	c.(1528-1530)tCt>tGt	p.S510C	NOMO3_ENST00000263012.6_Missense_Mutation_p.S510C|NOMO3_ENST00000538468.1_Missense_Mutation_p.S343C	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	510						integral to membrane	carbohydrate binding|carboxypeptidase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGGAAAGTCTCTTGTTTGGGT	0.443000													6	255					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124742421	124742421	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:124742421G>T	ENST00000397801.1	+	8	1495	c.1303G>T	c.(1303-1305)Gcc>Tcc	p.A435S	ROBO3_ENST00000538940.1_Missense_Mutation_p.A413S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	435	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CAGCATCCTGGCCAAGGCCCT	0.552000													29	38					7.61165e-28	1.17206e-27	1	1	0
FAAH2	158584	broad.mit.edu	37	X	57405214	57405214	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:57405214C>T	ENST00000374900.4	+	6	993	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	291						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GACCTGGGATCAAAAGGTATG	0.448000										HNSCC(52;0.14)			4	16					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994000	91994000	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:91994000G>T	ENST00000450295.1	-	16	2984	c.2208C>A	c.(2206-2208)ctC>ctA	p.L736L	SEMA4D_ENST00000422704.2_Silent_p.L736L|SEMA4D_ENST00000356444.2_Silent_p.L736L|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.L736L|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000420987.1_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	736					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						agagggacatgaggaggCGGT	0.517000													14	8					6.31663e-08	7.24995e-08	1	1	0
ZNF645	158506	broad.mit.edu	37	X	22291878	22291878	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:22291878C>A	ENST00000323684.1	+	1	814	c.770C>A	c.(769-771)cCc>cAc	p.P257H		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	257	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CCAACACCTCCCGACTATTAT	0.423000													58	235					9.21137e-24	1.37224e-23	1	1	0
DCX	1641	broad.mit.edu	37	X	110653415	110653415	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:110653415G>T	ENST00000338081.3	-	2	626	c.455C>A	c.(454-456)gCt>gAt	p.A152D	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.A71D|DCX_ENST00000356220.3_Missense_Mutation_p.A71D|DCX_ENST00000371993.2_Missense_Mutation_p.A71D|DCX_ENST00000488120.1_Missense_Mutation_p.A71D	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	152	Doublecortin 1.		A -> S (in LISX1).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.A152V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGAGGACACAGCGTACACAAT	0.522000													82	106					1.55521e-42	2.51961e-42	1	1	0
FBXL17	64839	broad.mit.edu	37	5	107700679	107700679	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:107700679C>A	ENST00000542267.1	-	3	1540	c.1134G>T	c.(1132-1134)ttG>ttT	p.L378F	FBXL17_ENST00000496714.1_5'UTR|FBXL17_ENST00000359660.5_5'UTR	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	378										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CAATTTTTTCCAACAATTCAT	0.274000													13	17					2.27111e-07	2.57274e-07	1	1	0
VPS13A	23230	broad.mit.edu	37	9	79862173	79862173	+	Splice_Site	SNP	A	A	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:79862173A>C	ENST00000360280.3	+	20	2160		c.e20-1		VPS13A_ENST00000376634.4_Splice_Site|VPS13A_ENST00000376636.3_Splice_Site|VPS13A_ENST00000357409.5_Splice_Site	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)						Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACATTTTTCCAGGTCTACTGT	0.264000													33	42					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248457966	248457966	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:248457966C>A	ENST00000317996.1	-	1	914	c.915G>T	c.(913-915)acG>acT	p.T305T		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GGTTTACACACGTCCCCAGCC	0.433000													23	188					1.57945e-13	2.04483e-13	1	1	0
BRWD3	254065	broad.mit.edu	37	X	79939645	79939645	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:79939645A>T	ENST00000373275.4	-	37	4313	c.4097T>A	c.(4096-4098)aTa>aAa	p.I1366K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1366	Bromo 2.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGGAGTATCTATAACATCTTG	0.343000													12	38					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948701	198948701	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:198948701G>C	ENST00000428675.1	+	2	858	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	PLCL1_ENST00000437704.2_Missense_Mutation_p.E56Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	154	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAAGACCTCGAGAAAGCCAA	0.443000													8	44					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347467	91347467	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:91347467C>A	ENST00000358859.2	-	1	1486	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CCCCTCTCTGCTCGTTCTCCT	0.478000													19	67					6.12954e-19	8.64294e-19	1	1	0
FLG	2312	broad.mit.edu	37	1	152282791	152282791	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:152282791G>T	ENST00000368799.1	-	3	4606	c.4571C>A	c.(4570-4572)cCc>cAc	p.P1524H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1524	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)			CCTTCCCTGGGGTGTGGTGTG	0.572000									Ichthyosis				198	344					1.47207e-89	2.4868e-89	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88965177	88965177	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:88965177G>T	ENST00000333190.4	+	4	3490	c.2881G>T	c.(2881-2883)Gtc>Ttc	p.V961F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	961						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCCTTCGCAAGTCCCATGCAC	0.388000										HNSCC(36;0.09)			31	146					4.3181e-19	6.10853e-19	1	1	0
OR5T1	390155	broad.mit.edu	37	11	56043676	56043676	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:56043676C>G	ENST00000313033.2	+	1	648	c.562C>G	c.(562-564)Cat>Gat	p.H188D		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H188D(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGAAATTAGGCATGTCTTTTG	0.408000													78	161					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48387785	48387785	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:48387785C>A	ENST00000380518.3	-	13	1026	c.862G>T	c.(862-864)Ggt>Tgt	p.G288C	COL2A1_ENST00000337299.6_Missense_Mutation_p.G219C	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	288	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACTCTGTGACCTTTGACACCA	0.507000													92	273					6.29542e-64	1.05327e-63	1	1	0
ANXA5	308	broad.mit.edu	37	4	122607505	122607505	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:122607505T>A	ENST00000296511.5	-	3	317	c.32A>T	c.(31-33)gAc>gTc	p.D11V	ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000515017.1_Missense_Mutation_p.D11V|ANXA5_ENST00000509016.1_5'UTR	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	11					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TCCAGGGAAGTCAGTCACAGT	0.403000													21	72					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725205	7725205	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:7725205G>C	ENST00000303635.7	+	9	2805	c.2598G>C	c.(2596-2598)caG>caC	p.Q866H	CAMTA1_ENST00000439411.2_Missense_Mutation_p.Q866H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	866					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCTGCAGCAGAGCGGACGGG	0.677000			T	WWTR1	epitheliod hemangioendothelioma								14	46					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237617792	237617792	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:237617792C>G	ENST00000366574.2	+	15	1711	c.1394C>G	c.(1393-1395)cCc>cGc	p.P465R	RYR2_ENST00000360064.6_Missense_Mutation_p.P463R|RYR2_ENST00000542537.1_Missense_Mutation_p.P449R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	465					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)			TACTTCCACCCCCCAGATGAG	0.488000													19	41					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139163923	139163923	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:139163923T>G	ENST00000395297.1	-	13	2965	c.2795A>C	c.(2794-2796)cAt>cCt	p.H932P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	932										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)			AGGCACCTGATGTTGAGAGAG	0.507000										HNSCC(54;0.14)			18	73					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142539866	142539866	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:142539866G>T	ENST00000295992.3	-	8	1277	c.971C>A	c.(970-972)aCa>aAa	p.T324K	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.H244Q	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	324	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGTGATGGTTGTGATAACAGT	0.443000													12	84					1.5842e-08	1.85249e-08	1	1	0
SLC38A2	54407	broad.mit.edu	37	12	46760712	46760712	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:46760712G>A	ENST00000256689.5	-	7	942	c.498C>T	c.(496-498)ctC>ctT	p.L166L	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	166					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TCACTATGAAGAGGTAGCTTG	0.403000													23	44					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51130885	51130885	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:51130885C>T	ENST00000301180.5	+	35	4202	c.4168C>T	c.(4168-4170)Ctt>Ttt	p.L1390F		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1390						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AGACTCTCACCTTGGAGAGGT	0.358000													39	61					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119120937	119120937	+	Silent	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:119120937A>T	ENST00000264245.4	+	10	1870	c.1338A>T	c.(1336-1338)acA>acT	p.T446T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	446					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCGAGCAAACAGCCCCAAAGA	0.597000													96	76					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44268883	44268883	+	Splice_Site	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr18:44268883C>A	ENST00000315087.7	-	4	972		c.e4-1		ST8SIA5_ENST00000536490.1_Splice_Site|ST8SIA5_ENST00000590497.1_Intron|ST8SIA5_ENST00000538168.1_Splice_Site	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5						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						CAGAGTAGACCTGCCAGGCAG	0.582000													7	27					0.00448238	0.00462594	1	1	0
LY75-CD302	100526664	broad.mit.edu	37	2	160636545	160636545	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:160636545G>A	ENST00000504764.1	-	37	5390	c.5363C>T	c.(5362-5364)tCt>tTt	p.S1788F	LY75_ENST00000554112.1_Missense_Mutation_p.S1788F|CD302_ENST00000259053.4_Missense_Mutation_p.S147F|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S1732F|LY75_ENST00000553424.1_Missense_Mutation_p.S1732F|CD302_ENST00000480212.1_5'UTR|CD302_ENST00000429078.2_Intron	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN		1653					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TCCTTCCACAGAAGAAACTTC	0.388000													12	52					0	0	1	0	0
GOLGA6L7P	728310	broad.mit.edu	37	15	29092288	29092288	+	RNA	SNP	G	G	T	rs140077701	by1000genomes	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:29092288G>T	ENST00000569815.1	-	0	227					NR_047567.1																						TTTTGGTGTCGGTTGCTCCGG	0.507000													10	14					0.000442599	0.000467875	1	1	0
TXNRD1	7296	broad.mit.edu	37	12	104645316	104645316	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:104645316C>A	ENST00000525566.1	+	2	127	c.103C>A	c.(103-105)Cac>Aac	p.H35N	TXNRD1_ENST00000429002.2_Missense_Mutation_p.H35N	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	35					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TAAAGATCATCACCCTGGTAA	0.423000													7	20					0.00448238	0.00462594	1	1	0
MADD	8567	broad.mit.edu	37	11	47311842	47311842	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:47311842A>G	ENST00000342922.4	+	18	3443	c.3086A>G	c.(3085-3087)tAt>tGt	p.Y1029C	MADD_ENST00000407859.3_Missense_Mutation_p.Y1006C|MADD_ENST00000406482.1_Missense_Mutation_p.Y986C|MADD_ENST00000402799.1_Missense_Mutation_p.Y986C|MADD_ENST00000402192.2_Missense_Mutation_p.Y1029C|MADD_ENST00000395336.3_Missense_Mutation_p.Y1049C|MADD_ENST00000395344.3_Missense_Mutation_p.Y986C|MADD_ENST00000349238.3_Missense_Mutation_p.Y1049C|MADD_ENST00000311027.5_Missense_Mutation_p.Y1049C	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1049					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ACCCACTACTATAGTAAAGGT	0.527000													28	21					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141283413	141283413	+	Splice_Site	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:141283413C>A	ENST00000389484.3	-	49	8997	c.8026_splice	c.e49+1	p.V2676_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2676					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)		CTAGTATTACCTGGGCACTTT	0.363000										TSP Lung(27;0.18)			16	57					3.32936e-07	3.76174e-07	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75834047	75834047	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:75834047C>A	ENST00000322507.8	-	41	6957	c.6648G>T	c.(6646-6648)ggG>ggT	p.G2216G	COL12A1_ENST00000416123.2_Silent_p.G2216G|COL12A1_ENST00000345356.6_Silent_p.G1052G|COL12A1_ENST00000483888.2_Silent_p.G2216G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2216	Fibronectin type-III 18.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATGTATCCCACCCAATCTGGT	0.358000													7	30					0.248553	0.249701	1	1	0
UBR1	197131	broad.mit.edu	37	15	43378432	43378432	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:43378432C>T	ENST00000290650.4	-	2	166	c.88G>A	c.(88-90)Gat>Aat	p.D30N	UBR1_ENST00000382177.2_Missense_Mutation_p.D30N	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	30					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACTTGCTGATCCCACCACTAA	0.358000													19	31					0	0	1	0	0
DDRGK1	65992	broad.mit.edu	37	20	3171440	3171440	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:3171440G>T	ENST00000354488.3	-	9	861	c.804C>A	c.(802-804)ttC>ttA	p.F268L	DDRGK1_ENST00000496781.1_5'UTR	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	268	PCI.					endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						TTATGTAGATGAACTTGCCCC	0.627000													4	22					2.56e-06	2.81568e-06	1	1	0
OR4K5	79317	broad.mit.edu	37	14	20389617	20389617	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:20389617C>T	ENST00000315915.4	+	1	877	c.852C>T	c.(850-852)ccC>ccT	p.P284P		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTAAACCCCATTATTTATA	0.408000													20	203					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130912746	130912746	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:130912746C>A	ENST00000261655.4	-	12	2502	c.2339G>T	c.(2338-2340)gGc>gTc	p.G780V		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	780						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTGGGACGTGCCGCTGGGCCG	0.627000													8	35					5.18039e-06	5.66199e-06	1	1	0
LRRC15	131578	broad.mit.edu	37	3	194080633	194080633	+	Silent	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:194080633G>C	ENST00000347624.3	-	2	1225	c.1140C>G	c.(1138-1140)ctC>ctG	p.L380L	LRRC15_ENST00000428839.1_Silent_p.L386L|LRRC15_ENST00000439944.2_Silent_p.L386L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	380						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TATTCCCTGGGAGCTGTCTGA	0.587000													34	30					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418389	48418389	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:48418389A>T	ENST00000376771.4	+	6	1434	c.1093A>T	c.(1093-1095)Aac>Tac	p.N365Y	TBC1D25_ENST00000537536.1_Missense_Mutation_p.N111Y|TBC1D25_ENST00000427713.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	365	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CCTGGCCGCCAACTTCCACCC	0.567000													7	28					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025660	176025660	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:176025660C>A	ENST00000303991.4	-	2	1353	c.1176G>T	c.(1174-1176)acG>acT	p.T392T		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	392						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGTAGTATCCGTGTGGCCAG	0.522000													27	32					4.14947e-28	6.41215e-28	1	1	0
PROX1	5629	broad.mit.edu	37	1	214171004	214171004	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:214171004T>G	ENST00000366958.4	+	2	1734	c.1126T>G	c.(1126-1128)Tcc>Gcc	p.S376A	PROX1_ENST00000261454.4_Missense_Mutation_p.S376A|PROX1_ENST00000498508.2_Missense_Mutation_p.S376A|PROX1_ENST00000435016.1_Missense_Mutation_p.S376A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	376					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GGCCAAGCCCTCCCGCCAGGT	0.547000													18	105					0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40265664	40265664	+	Silent	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:40265664T>C	ENST00000280871.4	-	5	1184	c.1134A>G	c.(1132-1134)acA>acG	p.T378T		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	378						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CTCCCACAAGTGTGAAAATGA	0.428000										HNSCC(50;0.14)			44	100					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226924519	226924519	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:226924519C>G	ENST00000429204.1	-	2	968	c.641G>C	c.(640-642)gGa>gCa	p.G214A	ITPKB_ENST00000366784.1_Missense_Mutation_p.G214A|ITPKB_ENST00000272117.3_Missense_Mutation_p.G214A	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	214							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGAGTCGGTTCCTGAAGTCTC	0.642000													24	79					0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104414868	104414868	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:104414868G>T	ENST00000302424.6	+	3	820	c.698G>T	c.(697-699)cGg>cTg	p.R233L	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	233						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAGGAAGTTCGGCTGCAGTAC	0.582000													27	31					5.45727e-16	7.36097e-16	1	1	0
HERC2P2	400322	broad.mit.edu	37	15	23300015	23300015	+	RNA	SNP	C	C	A	rs60002889	by1000genomes	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:23300015C>A	ENST00000560464.1	-	0	4272																											GCACCACGATCGGCAGAGCGG	0.602000													13	22					2.94398e-08	3.41502e-08	1	1	0
GGTLC1	92086	broad.mit.edu	37	20	23966561	23966561	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:23966561C>T	ENST00000335694.4	-	4	559	c.355G>A	c.(355-357)Ggc>Agc	p.G119S	GGTLC1_ENST00000278765.4_Missense_Mutation_p.G119S|GGTLC1_ENST00000286890.4_Missense_Mutation_p.G119S	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	119							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGGACCTGGCCGTCCTGGCCC	0.662000													44	259					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24401865	24401865	+	Silent	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:24401865T>C	ENST00000330966.7	-	22	2967	c.2805A>G	c.(2803-2805)aaA>aaG	p.K935K	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Silent_p.K934K|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Silent_p.K934K			Q5VTT5	MYOM3_HUMAN	myomesin 3	934										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCTTGTAGTCTTTGGACCACT	0.517000													22	75					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24542745	24542745	+	Missense_Mutation	SNP	C	C	A	rs11557516		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:24542745C>A	ENST00000397016.2	+	4	517	c.206C>A	c.(205-207)cCt>cAt	p.P69H	CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000537691.1_Missense_Mutation_p.P124H|CPNE6_ENST00000216775.2_Missense_Mutation_p.P69H			O95741	CPNE6_HUMAN	copine VI (neuronal)	69	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TGTTCCAGCCCTGTCTTCTCC	0.597000													34	89					1.47244e-24	2.20867e-24	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38945532	38945532	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:38945532C>A	ENST00000302328.3	-	12	1864	c.1666G>T	c.(1666-1668)Gtg>Ttg	p.V556L	SCN11A_ENST00000450244.1_Missense_Mutation_p.V556L|SCN11A_ENST00000456224.3_Missense_Mutation_p.V556L|SCN11A_ENST00000444237.2_Missense_Mutation_p.V556L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	556					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGTTCCACACGAGGTACTTG	0.502000													15	38					4.14922e-12	5.20147e-12	1	1	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													6	95					0	0	1	0	0
CENPC	1060	broad.mit.edu	37	4	68379793	68379793	+	Splice_Site	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:68379793C>G	ENST00000273853.6	-	8	1693	c.1444_splice	c.e8+1	p.V481_splice		NM_001812.2	NP_001803.2			centromere protein C																		AACACTTACCCACAGGTGGCA	0.328000													3	10					0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	103969569	103969569	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:103969569C>A	ENST00000535008.1	+	1	466	c.342C>A	c.(340-342)ctC>ctA	p.L114L	LHFPL3_ENST00000401970.2_Silent_p.L100L|LHFPL3_ENST00000543266.1_Silent_p.L114L|LHFPL3_ENST00000424859.1_Silent_p.L100L			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	100						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						TTATCGGCCTCTCCATGATGC	0.567000													26	85					1.88708e-17	2.61844e-17	1	1	0
TBC1D3B	414059	broad.mit.edu	37	17	34499273	34499273	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:34499273G>T	ENST00000454519.3	-	7	587	c.438C>A	c.(436-438)gaC>gaA	p.D146E	TBC1D3B_ENST00000398801.3_Missense_Mutation_p.D146E|CTB-91J4.1_ENST00000592460.1_RNA	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	146	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTATGTCCCGGTCGATGCGCT	0.547000													59	569					9.45097e-43	1.53689e-42	1	1	0
THG1L	54974	broad.mit.edu	37	5	157162889	157162889	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:157162889G>T	ENST00000231198.7	+	4	818	c.574G>T	c.(574-576)Gca>Tca	p.A192S		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	192					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTTTTCTGGGCACTTATACA	0.328000													32	36					1.49673e-21	2.17026e-21	1	1	0
MAGEB4	4115	broad.mit.edu	37	X	30260350	30260350	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:30260350C>A	ENST00000378982.2	+	1	294	c.98C>A	c.(97-99)gCa>gAa	p.A33E		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	33										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCTACTGCAGCAGAGAAAGAA	0.562000													9	47					1.58986e-06	1.75754e-06	1	1	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	52					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48629014	48629014	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:48629014C>A	ENST00000006658.6	+	13	1839	c.1719C>A	c.(1717-1719)acC>acA	p.T573T	SPATA20_ENST00000356488.4_Silent_p.T557T|SPATA20_ENST00000393244.3_Silent_p.T513T|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	557					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCTGCTACACCGGCCCTGGGG	0.642000													8	48					6.42651e-13	8.19804e-13	1	1	0
HGSNAT	138050	broad.mit.edu	37	8	43027457	43027457	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:43027457G>C	ENST00000458501.2	+	8	832	c.832G>C	c.(832-834)Gct>Cct	p.A278P	HGSNAT_ENST00000379644.4_Missense_Mutation_p.A250P			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	278					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTCTAGGATTGCTCTTATACT	0.378000													27	33					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12384256	12384256	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:12384256C>T	ENST00000356109.5	-	5	1076	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	ZNF44_ENST00000355684.5_Missense_Mutation_p.E272K	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TGAGTTCTTTCATGTCTTAGA	0.403000													23	92					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14497380	14497380	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:14497380T>C	ENST00000249923.3	-	13	1867	c.1567A>G	c.(1567-1569)Act>Gct	p.T523A	COPB1_ENST00000526191.1_5'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.T523A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	523					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GCACTCTGAGTTGCATAGGTA	0.398000													75	78					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59280641	59280641	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:59280641T>C	ENST00000320743.3	-	9	1409	c.1123A>G	c.(1123-1125)Att>Gtt	p.I375V	LRIG3_ENST00000379141.4_Missense_Mutation_p.I315V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	375						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATGTCTTCAATAGTCCAGGAA	0.388000			T	ROS1	NSCLC								21	50					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71415418	71415418	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:71415418C>T	ENST00000392650.3	-	16	2073	c.2073G>A	c.(2071-2073)acG>acA	p.T691T	SDK2_ENST00000388726.3_Silent_p.T691T	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	691	Fibronectin type-III 2.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTGGAGGGGCCGTGGGGGGCT	0.567000													11	12					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52789933	52789933	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:52789933C>A	ENST00000257974.2	-	7	1229	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	384	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCTCCTCCAGCCCTGCCAGCT	0.612000													17	46					7.81268e-19	1.09984e-18	1	1	0
GRIP2	80852	broad.mit.edu	37	3	14564424	14564424	+	RNA	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:14564424G>T	ENST00000273083.3	-	0	632							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						tggggaaggggcatggtgacc	0.602000													5	8					0.014758	0.0150521	1	1	0
MYPN	84665	broad.mit.edu	37	10	69926349	69926349	+	Missense_Mutation	SNP	C	C	A	rs147500426	by1000genomes	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:69926349C>A	ENST00000358913.5	+	10	2387	c.1899C>A	c.(1897-1899)aaC>aaA	p.N633K	MYPN_ENST00000354393.2_Missense_Mutation_p.N358K|MYPN_ENST00000540630.1_Missense_Mutation_p.N633K	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	633						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGAGGTTCAACGGACAGGCAA	0.522000													32	37					1.90571e-15	2.55072e-15	1	1	0
USH2A	7399	broad.mit.edu	37	1	216262382	216262382	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:216262382G>A	ENST00000366943.2	-	23	5244	c.4858C>T	c.(4858-4860)Caa>Taa	p.Q1620*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q1620*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1620	Laminin G-like 1.				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)		AGAGTGATTTGGCCAAAAGCC	0.363000										HNSCC(13;0.011)			54	103					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976683	46976683	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:46976683A>G	ENST00000371956.4	+	3	440	c.425A>G	c.(424-426)aAg>aGg	p.K142R	DMBX1_ENST00000360032.3_Missense_Mutation_p.K137R	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	142	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CAGAAGCAGAAGGAGGCTGAG	0.647000													9	46					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95858785	95858785	+	Splice_Site	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:95858785C>T	ENST00000376887.4	-	8	1276		c.e8+1		ABCC4_ENST00000412704.1_Splice_Site|ABCC4_ENST00000538287.1_Splice_Site|ABCC4_ENST00000536256.1_Splice_Site|ABCC4_ENST00000431522.1_Splice_Site	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4						platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTGACACCAACCTGGATTCTT	0.458000													25	61					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002485	3002485	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:3002485T>A	ENST00000381127.1	+	6	829	c.608T>A	c.(607-609)cTa>cAa	p.L203Q	ARSF_ENST00000537104.1_Missense_Mutation_p.L203Q|ARSF_ENST00000359361.2_Missense_Mutation_p.L203Q	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	203						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)				ATCCTCACCCTAACCTTTGGG	0.537000													19	69					0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170723754	170723754	+	Silent	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:170723754A>G	ENST00000314251.3	-	6	832	c.753T>C	c.(751-753)gaT>gaC	p.D251D	SLC2A2_ENST00000382808.4_Silent_p.D132D	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	251					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TGACTTCCTCATCTAACTTGA	0.428000													66	58					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390843	107390843	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:107390843C>T	ENST00000429433.2	-	5	2201	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	BEND3_ENST00000369042.1_Missense_Mutation_p.E518K	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	518										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CGCTCGCCCTCGAAGCTGTCC	0.647000													8	33					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180317	65180317	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr18:65180317T>A	ENST00000310045.7	-	2	3032	c.1559A>T	c.(1558-1560)cAg>cTg	p.Q520L	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	510						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTTATTACACTGGCTTGAGGG	0.498000													29	41					0	0	1	0	0
USP51	158880	broad.mit.edu	37	X	55515108	55515108	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:55515108G>C	ENST00000500968.3	-	2	347	c.265C>G	c.(265-267)Ctt>Gtt	p.L89V	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	89					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TGACAGCGAAGGGGGATTGAA	0.706000													6	25					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008864	88008864	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:88008864G>T	ENST00000276127.4	+	3	708	c.449G>T	c.(448-450)aGt>aTt	p.S150I	CPXCR1_ENST00000373111.1_Missense_Mutation_p.S150I	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	150						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GAGATAAGAAGTATGATTCTC	0.373000													25	44					9.86323e-18	1.37296e-17	1	1	0
HDAC6	10013	broad.mit.edu	37	X	48666690	48666690	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:48666690C>A	ENST00000334136.5	+	10	941	c.763C>A	c.(763-765)Cac>Aac	p.H255N	HDAC6_ENST00000376619.2_Missense_Mutation_p.H255N|HDAC6_ENST00000444343.2_Missense_Mutation_p.H269N|HDAC6_ENST00000413163.2_Missense_Mutation_p.H200N			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	255	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TTGGGATGTGCACCACGGTCA	0.577000													4	25					1	1	1	1	0
GPR34	2857	broad.mit.edu	37	X	41554971	41554971	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:41554971C>G	ENST00000378142.4	+	3	369	c.85C>G	c.(85-87)Cat>Gat	p.H29D	CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.H29D|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000442742.2_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	29						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TATAACCAATCATAGCGACCA	0.438000													20	113					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209969722	209969722	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:209969722G>A	ENST00000367021.3	-	4	522	c.350C>T	c.(349-351)cCt>cTt	p.P117L	IRF6_ENST00000542854.1_Missense_Mutation_p.P22L	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	117					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTGGGGCTGAGGGATGTCACA	0.532000										HNSCC(57;0.16)			20	44					0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40341806	40341806	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:40341806G>A	ENST00000301671.8	-	9	1949	c.1508C>T	c.(1507-1509)cCc>cTc	p.P503L	GHDC_ENST00000593209.1_Intron|GHDC_ENST00000587427.1_Missense_Mutation_p.P503L|GHDC_ENST00000414034.3_3'UTR|GHDC_ENST00000428494.2_Missense_Mutation_p.P464L			Q8N2G8	GHDC_HUMAN	GH3 domain containing	503						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGGGGAGGAGGGGCAGGCAGC	0.701000													5	7					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	167760266	167760266	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:167760266C>T	ENST00000409195.1	+	2	363	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	XIRP2_ENST00000420519.1_Missense_Mutation_p.R92W|XIRP2_ENST00000409728.1_Missense_Mutation_p.R92W|XIRP2_ENST00000295237.9_Missense_Mutation_p.R92W|XIRP2_ENST00000409043.1_Missense_Mutation_p.R92W|XIRP2_ENST00000409756.2_Missense_Mutation_p.R92W	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.R92R(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAATATGGTCGGCCAGAAGT	0.522000													10	48					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138320897	138320897	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:138320897G>T	ENST00000409968.1	+	16	3423	c.3245G>T	c.(3244-3246)gGa>gTa	p.G1082V	THSD7B_ENST00000413152.2_Missense_Mutation_p.G1054V|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1085V|THSD7B_ENST00000543459.1_Intron					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)		CTGCGCTGTGGAGGAGGAACA	0.428000													15	22					1.3612e-06	1.51052e-06	1	1	0
TRAPPC3	27095	broad.mit.edu	37	1	36605384	36605384	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:36605384G>A	ENST00000373166.3	-	3	267	c.177C>T	c.(175-177)ttC>ttT	p.F59F	TRAPPC3_ENST00000462715.1_5'UTR|TRAPPC3_ENST00000373159.1_Silent_p.F59F|TRAPPC3_ENST00000373162.1_Silent_p.F13F|TRAPPC3_ENST00000373163.1_Silent_p.F13F	NM_001270896.1|NM_014408.3	NP_001257825.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3	59						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				ACCGAGCCAAGAAATCTTCAA	0.453000													9	36					0	0	1	0	0
ATG3	64422	broad.mit.edu	37	3	112255419	112255419	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:112255419A>C	ENST00000402314.2	-	10	1084	c.697T>G	c.(697-699)Tat>Gat	p.Y233D	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000283290.5_Missense_Mutation_p.Y233D			Q9NT62	ATG3_HUMAN	autophagy related 3	233					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						ATGTCTTCATACATGTGCTCA	0.458000													13	87					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000217	219000217	+	Nonsense_Mutation	SNP	C	C	A	rs138670528		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:219000217C>A	ENST00000318507.2	+	3	1120	c.693C>A	c.(691-693)taC>taA	p.Y231*		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	231					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGTTCTGCTACGGATTCACCC	0.567000													102	187					3.24416e-54	5.3966e-54	1	1	0
SLC16A14	151473	broad.mit.edu	37	2	230911224	230911224	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:230911224C>T	ENST00000295190.4	-	4	1076	c.618G>A	c.(616-618)ggG>ggA	p.G206G		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	206						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCATGAGCGCCCCACAAACAC	0.542000													17	85					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32893915	32893915	+	RNA	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:32893915C>A	ENST00000330048.5	-	0	1342					NR_003083.2																						GTTGGCCAGGCTGGCACTGGC	0.607000													52	753					4.17463e-26	6.3274e-26	1	1	0
SLC24A1	9187	broad.mit.edu	37	15	65946196	65946196	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:65946196C>G	ENST00000261892.6	+	10	3366	c.3079C>G	c.(3079-3081)Ctt>Gtt	p.L1027V	SLC24A1_ENST00000399033.4_Missense_Mutation_p.L997V|SLC24A1_ENST00000546330.1_Missense_Mutation_p.L1009V|SLC24A1_ENST00000537259.1_Intron|SLC24A1_ENST00000544319.2_Missense_Mutation_p.L913V|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_Missense_Mutation_p.L1009V	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	1027					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCTTTTCTCTCTTATCAATGG	0.363000													21	107					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697069	153697069	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:153697069G>A	ENST00000369682.3	+	24	4459	c.4284G>A	c.(4282-4284)ctG>ctA	p.L1428L		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1428					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATAAGTTTCTGAAGGTGCGCC	0.632000													39	116					0	0	1	0	0
POLR3K	51728	broad.mit.edu	37	16	103541	103541	+	Missense_Mutation	SNP	C	C	T	rs11545894		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:103541C>T	ENST00000293860.5	-	1	87	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa	16					innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CGTTGTCCCTCCTCCACGATC	0.692000											OREG0003710	type=REGULATORY REGION|Gene=C16orf33|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	87					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238283182	238283182	+	Silent	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:238283182A>G	ENST00000295550.4	-	8	4004	c.3552T>C	c.(3550-3552)ttT>ttC	p.F1184F	COL6A3_ENST00000472056.1_Silent_p.F577F|COL6A3_ENST00000392004.3_Silent_p.F978F|COL6A3_ENST00000392003.2_Silent_p.F777F|COL6A3_ENST00000353578.4_Silent_p.F978F|COL6A3_ENST00000409809.1_Silent_p.F978F|COL6A3_ENST00000346358.4_Silent_p.F984F|COL6A3_ENST00000347401.3_Silent_p.F983F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1184	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)		TGGCCACGGCAAAGTCCGGGA	0.622000													25	26					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26219624	26219624	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:26219624G>C	ENST00000335473.7	+	13	2924	c.2674G>C	c.(2674-2676)Gag>Cag	p.E892Q	MYO18B_ENST00000407587.2_Missense_Mutation_p.E892Q|MYO18B_ENST00000536101.1_Missense_Mutation_p.E892Q	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	892	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATGGGGCCTCGAGGATGAGGA	0.587000													41	175					0	0	1	0	0
PEBP4	157310	broad.mit.edu	37	8	22571033	22571033	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:22571033G>A	ENST00000256404.6	-	7	625	c.534C>T	c.(532-534)gaC>gaT	p.D178D	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	178						lysosome				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		TCAGAAATCTGTCCATTTTCC	0.562000													13	20					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56877595	56877595	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:56877595G>T	ENST00000257287.4	+	20	2647	c.2523G>T	c.(2521-2523)ttG>ttT	p.L841F		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	841					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CATTGGAATTGGAAGCAGCAG	0.328000													11	49					0.010729	0.0109686	1	1	0
PHKG1	5260	broad.mit.edu	37	7	56155351	56155351	+	Missense_Mutation	SNP	G	G	C	rs137913814	byFrequency	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:56155351G>C	ENST00000452681.2	-	3	351	c.202C>G	c.(202-204)Cga>Gga	p.R68G	PHKG1_ENST00000537360.1_Missense_Mutation_p.A32G|PHKG1_ENST00000489604.1_5'UTR|PHKG1_ENST00000297373.2_Missense_Mutation_p.R68G	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	68	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGGCTTCTCGCAGCTCCCGC	0.652000													33	23					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174166	63174166	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:63174166T>C	ENST00000279178.3	+	7	1520	c.1271T>C	c.(1270-1272)aTc>aCc	p.I424T	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	424					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTTCTGGCCATCATATTTGTG	0.483000													11	30					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64634303	64634303	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:64634303A>T	ENST00000357395.3	+	93	17150	c.6006A>T	c.(6004-6006)aaA>aaT	p.K2002N	SYNE2_ENST00000554584.1_Missense_Mutation_p.K5492N|SYNE2_ENST00000394768.2_Missense_Mutation_p.K2002N|SYNE2_ENST00000358025.3_Missense_Mutation_p.K5617N|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.K5617N|SYNE2_ENST00000555002.1_Missense_Mutation_p.K2251N			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5617					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGCACTCAAAGTGGATGTGG	0.453000													30	34					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21250966	21250966	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:21250966A>T	ENST00000298925.5	+	15	1752	c.1599A>T	c.(1597-1599)aaA>aaT	p.K533N	NELL1_ENST00000325319.5_Missense_Mutation_p.K448N|NELL1_ENST00000357134.5_Missense_Mutation_p.K505N|NELL1_ENST00000532434.1_Missense_Mutation_p.K505N			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	505	EGF-like 4.				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						GCACCTGCAAACCGGGCTACG	0.577000													43	54					0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45827427	45827427	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:45827427G>C	ENST00000314134.3	+	1	1471	c.75G>C	c.(73-75)gaG>gaC	p.E25D	SLC35C1_ENST00000456334.1_Missense_Mutation_p.E12D|SLC35C1_ENST00000442528.2_Missense_Mutation_p.E12D	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	25						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CCTCTGCAGAGGCAGAGGCCA	0.627000													42	46					0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31573551	31573551	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:31573551G>A	ENST00000356173.3	-	11	980	c.888C>T	c.(886-888)ttC>ttT	p.F296F	SUN5_ENST00000375523.3_Silent_p.F271F	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	296	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CATAGATGACGAAGTCCTTGG	0.537000													9	69					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136476289	136476289	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:136476289G>T	ENST00000394945.1	-	4	496	c.327C>A	c.(325-327)agC>agA	p.S109R	SPOCK1_ENST00000282223.7_Missense_Mutation_p.S109R	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	109					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGCTTGCGGCTGACACACA	0.617000													18	19					0.000132079	0.000141513	1	1	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147089	52147089	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:52147089A>T	ENST00000360844.6	-	5	996	c.955T>A	c.(955-957)Tgc>Agc	p.C319S	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	319	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGAACCCGGCAGGTGAATTCC	0.592000													37	42					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776542	38776542	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:38776542C>A	ENST00000308973.4	-	4	1275	c.670G>T	c.(670-672)Ggc>Tgc	p.G224C	TLR10_ENST00000508334.1_Missense_Mutation_p.G224C|TLR10_ENST00000361424.2_Missense_Mutation_p.G224C|TLR10_ENST00000506111.1_Missense_Mutation_p.G224C	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	224					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TGGCTTTTGCCATCTATATTT	0.318000													8	20					6.5536e-12	8.20379e-12	1	1	0
NEK1	4750	broad.mit.edu	37	4	170498202	170498202	+	Silent	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:170498202C>G	ENST00000439128.2	-	11	1537	c.897G>C	c.(895-897)tcG>tcC	p.S299S	NEK1_ENST00000512193.1_Silent_p.S299S|NEK1_ENST00000507142.1_Silent_p.S299S|NEK1_ENST00000511633.1_Silent_p.S299S|NEK1_ENST00000510533.1_Silent_p.S299S	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	299					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TAACAGAAATCGAGTTTTGTC	0.328000													6	50					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	131958539	131958539	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:131958539G>A	ENST00000414305.1	+	2	343	c.15G>A	c.(13-15)ttG>ttA	p.L5L	ENPP3_ENST00000543135.1_5'UTR|ENPP3_ENST00000357639.3_Silent_p.L5L|ENPP3_ENST00000427148.2_5'UTR|ENPP3_ENST00000358229.5_Silent_p.L5L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	5					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AATCTACGTTGACTTTAGCAA	0.343000													33	64					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21594797	21594797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:21594797G>T	ENST00000298925.5	+	20	2461	c.2308G>T	c.(2308-2310)Gaa>Taa	p.E770*	NELL1_ENST00000325319.5_Nonsense_Mutation_p.E685*|NELL1_ENST00000357134.5_Nonsense_Mutation_p.E742*|NELL1_ENST00000532434.1_Nonsense_Mutation_p.E695*|NELL1_ENST00000529218.1_3'UTR			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	742	VWFC 5.				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						AGCTATCTTAGAAGGGGAATG	0.468000													29	158					1.56442e-22	2.3147e-22	1	1	0
DIAPH3	81624	broad.mit.edu	37	13	60348335	60348335	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:60348335C>A	ENST00000400324.4	-	27	3527	c.3307G>T	c.(3307-3309)Gtt>Ttt	p.V1103F	DIAPH3_ENST00000400319.1_Missense_Mutation_p.V1033F|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.V1057F|DIAPH3_ENST00000400330.1_Missense_Mutation_p.V1103F|DIAPH3_ENST00000377908.2_Missense_Mutation_p.V1092F|DIAPH3_ENST00000267215.4_Missense_Mutation_p.V1103F	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1103					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TGGTTACAAACTTTCAGAACA	0.333000													14	27					3.41278e-10	4.11236e-10	1	1	0
OR4D6	219983	broad.mit.edu	37	11	59224568	59224568	+	Silent	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:59224568T>A	ENST00000300127.2	+	1	158	c.135T>A	c.(133-135)atT>atA	p.I45I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ATGCACTCATTGTGGTCACTA	0.458000													26	48					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220803	118220803	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:118220803C>T	ENST00000402510.2	-	11	4389	c.4390G>A	c.(4390-4392)Gca>Aca	p.A1464T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1464										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GATAGGTTTGCATGCTGGTTA	0.423000													10	44					0	0	1	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14183958	14183958	+	RNA	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr18:14183958G>T	ENST00000581935.1	+	0	647																				lung(3)	3						GGCTTGTGCCGTTATTCTGCT	0.453000													38	140					8.04919e-23	1.19298e-22	1	1	0
OR5L1	219437	broad.mit.edu	37	11	55579501	55579501	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:55579501C>A	ENST00000333973.2	+	1	648	c.559C>A	c.(559-561)Ctt>Att	p.L187I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGTCTTAAGTCTTGCTTGCTC	0.433000													5	180					5.9392e-07	6.68448e-07	1	1	0
LUZP2	338645	broad.mit.edu	37	11	25004766	25004766	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:25004766C>G	ENST00000533227.1	+	9	721	c.434C>G	c.(433-435)tCa>tGa	p.S145*	LUZP2_ENST00000336930.6_Nonsense_Mutation_p.S231*	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	231						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTAATCACATCAAATCCAACT	0.458000													31	178					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87748112	87748112	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:87748112C>T	ENST00000270583.5	-	8	885	c.827G>A	c.(826-828)gGa>gAa	p.G276E	KLHDC4_ENST00000353170.5_Missense_Mutation_p.G219E|KLHDC4_ENST00000347925.5_Missense_Mutation_p.G245E|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	276										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		ACCTTCTCTTCCGTCCTCTGG	0.602000													78	86					0	0	1	0	0
PCCA	5095	broad.mit.edu	37	13	100909878	100909878	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:100909878G>T	ENST00000376285.1	+	9	705	c.667G>T	c.(667-669)Ggt>Tgt	p.G223C	PCCA_ENST00000376279.3_Missense_Mutation_p.G223C|PCCA_ENST00000376286.4_Missense_Mutation_p.G197C	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	223	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GGCCTCAGCAGGTGGTGGTGG	0.453000													18	51					1.10513e-12	1.40771e-12	1	1	0
HAND1	9421	broad.mit.edu	37	5	153857547	153857547	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:153857547C>A	ENST00000231121.2	-	1	277	c.22G>T	c.(22-24)Gca>Tca	p.A8S		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	8					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGATGGTGTGCGTAGCTGCCC	0.662000													48	73					4.33383e-22	6.33686e-22	1	1	0
TLR4	7099	broad.mit.edu	37	9	120475245	120475245	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:120475245T>A	ENST00000355622.6	+	3	940	c.839T>A	c.(838-840)cTg>cAg	p.L280Q	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.L240Q	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	280					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTAGAGGGCCTGTGCAATTTG	0.358000													81	59					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	110					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081864	152081864	+	Silent	SNP	G	G	T	rs2496252		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:152081864G>T	ENST00000368804.1	-	2	3828	c.3829C>A	c.(3829-3831)Cga>Aga	p.R1277R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1277					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)			TCACGATCTCGCTCTTGCTGT	0.567000													40	81					3.05275e-18	4.2768e-18	1	1	0
APOOL	139322	broad.mit.edu	37	X	84342596	84342596	+	Splice_Site	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:84342596G>T	ENST00000373173.2	+	9	806	c.718_splice	c.e9-1	p.G240_splice		NM_198450.5	NP_940852.3	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like	240						extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTTTATCAGGTGCAACCCAG	0.388000													4	13					0.014758	0.0150521	1	1	0
OR8U1	219417	broad.mit.edu	37	11	56143407	56143407	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:56143407G>A	ENST00000302270.1	+	1	308	c.308G>A	c.(307-309)tGc>tAc	p.C103Y		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CAACTGGGCTGCTTTCTCACC	0.398000													35	154					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152536113	152536113	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:152536113T>A	ENST00000367255.5	-	122	22875	c.22274A>T	c.(22273-22275)aAg>aTg	p.K7425M	SYNE1_ENST00000265368.4_Missense_Mutation_p.K7425M|SYNE1_ENST00000356820.4_Missense_Mutation_p.K1949M|SYNE1_ENST00000423061.1_Missense_Mutation_p.K7354M|SYNE1_ENST00000341594.5_Missense_Mutation_p.K7037M|SYNE1_ENST00000448038.1_Missense_Mutation_p.K7354M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7425					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)		TTTGATTTCCTTATCATTCAA	0.398000										HNSCC(10;0.0054)			51	53					0	0	1	0	0
MRPL32	64983	broad.mit.edu	37	7	42972083	42972083	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:42972083A>G	ENST00000223324.2	+	1	285	c.98A>G	c.(97-99)cAg>cGg	p.Q33R		NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	33				SPWSAARGVLRNYWERLLRKLPQSRPGFPSPPW -> RRGL RPGECFETTGSDCYGSFRRAGRAFPVLRGV (in Ref. 3).	translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AAGCTTCCGCAGAGCCGGCCG	0.647000													7	8					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695605	109695605	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:109695605C>T	ENST00000465301.2	+	3	2006	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	RGAG1_ENST00000540313.1_Missense_Mutation_p.S587L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	587										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						ACCTCTGGATCAACATCCACG	0.498000													47	56					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160692092	160692092	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:160692092T>G	ENST00000263636.4	-	26	3599	c.3572A>C	c.(3571-3573)aAt>aCt	p.N1191T	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.N1191T|LY75_ENST00000554112.1_Missense_Mutation_p.N1191T|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.N1191T|LY75_ENST00000553424.1_Missense_Mutation_p.N1191T	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GAGTTGCCCATTAGTTTCAGC	0.418000													21	86					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8618164	8618164	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:8618164G>T	ENST00000382073.3	+	4	494	c.308G>T	c.(307-309)aGt>aTt	p.S103I		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	103	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TGGTCTAAGAGTGAGCAGAAC	0.403000													63	168					5.46685e-50	9.05936e-50	1	1	0
ZNF114	163071	broad.mit.edu	37	19	48790036	48790036	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:48790036G>A	ENST00000595607.1	+	6	1649	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E	ZNF114_ENST00000315849.1_Silent_p.E385E|ZNF114_ENST00000600687.1_Silent_p.E385E|ZNF114_ENST00000597695.1_Silent_p.E351E			Q8NC26	ZN114_HUMAN	zinc finger protein 114	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ACACTGGAGAGAAACCCTATA	0.403000													27	77					0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171165862	171165862	+	Missense_Mutation	SNP	C	C	A	rs41272515		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:171165862C>A	ENST00000441535.1	+	4	513	c.396C>A	c.(394-396)aaC>aaA	p.N132K	FMO2_ENST00000209929.7_Missense_Mutation_p.N132K|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000529935.1_3'UTR	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	132					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCAGAGCAACGGCAAGGAGC	0.483000													30	67					1.39806e-14	1.84569e-14	1	1	0
IL17REL	400935	broad.mit.edu	37	22	50437721	50437721	+	Splice_Site	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:50437721G>T	ENST00000389983.2	-	9	864	c.601_splice	c.e9+1	p.N200_splice	IL17REL_ENST00000341280.5_Splice_Site_p.N200_splice	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	200										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GACACTTGCCGTTTTCAAAGG	0.647000													63	118					2.51111e-31	3.95772e-31	1	1	0
HERC2	8924	broad.mit.edu	37	15	28366563	28366563	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:28366563G>A	ENST00000261609.7	-	86	13309	c.13201C>T	c.(13201-13203)Cgg>Tgg	p.R4401W		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4401					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTACTTTCCGGAAAGCCGCC	0.438000													21	35					0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44638089	44638089	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:44638089C>T	ENST00000332990.5	-	3	218	c.202G>A	c.(202-204)Gag>Aag	p.E68K		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	68						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TGAGGCTGCTCACCAGCTTGT	0.378000													18	29					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45899844	45899844	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:45899844C>A	ENST00000418234.2	-	4	749	c.671G>T	c.(670-672)gGc>gTc	p.G224V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G224V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	224	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCCGCCGGAGCCTAGCAGGGA	0.746000													3	7					1	1	1	1	0
ELTD1	64123	broad.mit.edu	37	1	79357285	79357285	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:79357285G>T	ENST00000370742.3	-	14	1997	c.1934C>A	c.(1933-1935)aCa>aAa	p.T645K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	645					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAGGTAAGCTGTAACCACTGA	0.448000													26	37					1.77063e-15	2.37357e-15	1	1	0
FBXO34	55030	broad.mit.edu	37	14	55817739	55817739	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:55817739G>T	ENST00000313833.4	+	2	876	c.631G>T	c.(631-633)Gtt>Ttt	p.V211F	FBXO34_ENST00000440021.1_Missense_Mutation_p.V211F	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	211										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TATACAGATGGTTGCCTTCTT	0.493000													22	56					1.96895e-08	2.28703e-08	1	1	0
DLGAP3	58512	broad.mit.edu	37	1	35365313	35365313	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:35365313C>A	ENST00000373347.1	-	5	1611	c.1343G>T	c.(1342-1344)cGg>cTg	p.R448L	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R448L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	448					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.R448Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GATGGAGCTCCGGGGGTGGAT	0.582000													42	110					8.72198e-27	1.3266e-26	1	1	0
TFAP2A	7020	broad.mit.edu	37	6	10419659	10419659	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:10419659C>A	ENST00000319516.4	-	1	212	c.25G>T	c.(25-27)Gac>Tac	p.D9Y		NM_001042425.1	NP_001035890.1	P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	13					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				ACCTGCCAGTCCCCCATTTTG	0.697000													27	102					1.12875e-08	1.32705e-08	1	1	0
OR2M2	391194	broad.mit.edu	37	1	248343773	248343773	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:248343773C>A	ENST00000359682.2	+	1	486	c.486C>A	c.(484-486)gcC>gcA	p.A162A		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGCTGTAGCCACATTTTCCT	0.423000													112	216					1.47424e-42	2.39289e-42	1	1	0
SMC5	23137	broad.mit.edu	37	9	72965198	72965198	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:72965198G>A	ENST00000361138.5	+	23	3116	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	1020	Ala/Asp-rich (DA-box).				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AGTAGTTGATGAAATCAATCA	0.363000													28	149					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100200213	100200213	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:100200213A>T	ENST00000547776.2	-	4	637	c.638T>A	c.(637-639)cTg>cAg	p.L213Q	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.L213Q	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	213						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)		TGCCTCCAGCAGCACCTGCAC	0.488000													12	57					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29701132	29701132	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:29701132G>C	ENST00000358273.4	+	58	8862	c.8479G>C	c.(8479-8481)Gct>Cct	p.A2827P	NF1_ENST00000444181.2_Missense_Mutation_p.A620P|NF1_ENST00000356175.3_Missense_Mutation_p.A2806P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2827					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCAAAGAAGCGCTGGCAGTTT	0.468000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			21	45					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136170877	136170877	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:136170877C>T	ENST00000383202.2	-	14	1682	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	STAG1_ENST00000236698.5_Missense_Mutation_p.E476K|STAG1_ENST00000434713.2_Missense_Mutation_p.E250K|STAG1_ENST00000536929.1_Missense_Mutation_p.E60K	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	476					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTTTTTACCTCACTTTCAAGA	0.303000													11	77					0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	44008246	44008246	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:44008246C>A	ENST00000292140.5	-	2	385	c.25G>T	c.(25-27)Gag>Tag	p.E9*	PHLDB3_ENST00000599242.1_Nonsense_Mutation_p.E9*	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	9										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GGGGTCCCCTCCTCGGGGCTG	0.746000													5	17					0.000602214	0.000635062	1	1	0
NOP14	8602	broad.mit.edu	37	4	2943949	2943949	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:2943949G>A	ENST00000416614.2	-	14	2086	c.2021C>T	c.(2020-2022)gCc>gTc	p.A674V	NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.A674V|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.A674V|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.A674V|NOP14-AS1_ENST00000505731.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	674					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CGAAGTTGGGGCCCTCAGTCT	0.627000													3	63					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46739419	46739419	+	Splice_Site	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:46739419G>A	ENST00000371975.4	+	14	2284	c.1610_splice	c.e14+1	p.R537_splice	RAD54L_ENST00000442598.1_Splice_Site_p.R537_splice|RAD54L_ENST00000488942.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	537	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CGTGCCCGAAGGTAGGGAAGA	0.522000								Direct reversal of damage;Homologous recombination					3	5					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89205259	89205259	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:89205259C>A	ENST00000554922.1	-	6	1059	c.811G>T	c.(811-813)Gtg>Ttg	p.V271L	EML5_ENST00000352093.5_Missense_Mutation_p.V271L|EML5_ENST00000380664.5_Missense_Mutation_p.V271L	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	271						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGATCAATCACAGTAATTGGT	0.373000													9	13					0.000442599	0.000467875	1	1	0
MMRN1	22915	broad.mit.edu	37	4	90857017	90857017	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:90857017A>G	ENST00000394980.1	+	7	2505	c.2186A>G	c.(2185-2187)aAt>aGt	p.N729S	MMRN1_ENST00000264790.2_Missense_Mutation_p.N729S|MMRN1_ENST00000508372.1_Missense_Mutation_p.N471S|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	729					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)		GATGGCCTCAATAAGACAATG	0.323000													18	46					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717676	73717676	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:73717676G>C	ENST00000264448.6	+	10	8698	c.8587G>C	c.(8587-8589)Gga>Cga	p.G2863R	ALMS1_ENST00000409009.1_Missense_Mutation_p.G2821R	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2863					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTCCAGACTAGGAGTAAAAGA	0.408000													56	34					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104070553	104070553	+	Nonsense_Mutation	SNP	G	G	A	rs75617708		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:104070553G>A	ENST00000265148.3	-	27	3498	c.3409C>T	c.(3409-3411)Caa>Taa	p.Q1137*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.Q1112*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1137					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTTTTTCTTGGAGTTGCTGG	0.294000													8	17					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65124381	65124381	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:65124381G>T	ENST00000309880.5	+	2	1309	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	368					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GCTGGCTCCCGGCAAAACGCC	0.632000													54	115					7.73544e-29	1.20391e-28	1	1	0
EZH1	2145	broad.mit.edu	37	17	40872352	40872352	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:40872352C>T	ENST00000428826.2	-	7	724	c.603G>A	c.(601-603)aaG>aaA	p.K201K	EZH1_ENST00000585893.1_Silent_p.K161K|EZH1_ENST00000590078.1_Silent_p.K131K|EZH1_ENST00000415827.2_Silent_p.K192K|EZH1_ENST00000435174.1_Silent_p.K62K|EZH1_ENST00000592743.1_Silent_p.K201K			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	201					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGTCATCCTGCTTTCCATCTG	0.453000													20	87					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53655812	53655812	+	Silent	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:53655812G>C	ENST00000342160.3	-	13	1462	c.1005C>G	c.(1003-1005)gtC>gtG	p.V335V	HUWE1_ENST00000262854.6_Silent_p.V335V|HUWE1_ENST00000218328.8_Silent_p.V335V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	335					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTCCAAGTGGACAATTGATG	0.378000													14	44					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32756763	32756763	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:32756763C>T	ENST00000249007.4	+	2	1103	c.898C>T	c.(898-900)Cct>Tct	p.P300S	RFPL3S_ENST00000382084.4_Missense_Mutation_p.G63E|RFPL3_ENST00000397468.1_Missense_Mutation_p.P271S|RFPL3S_ENST00000461833.1_5'UTR|RFPL3S_ENST00000400234.1_Missense_Mutation_p.G92E|RFPL3_ENST00000382088.3_Missense_Mutation_p.P271S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	300	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GAGCATCTGTCCTTTGATGAA	0.493000													23	94					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77301058	77301058	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:77301058C>T	ENST00000341514.6	+	22	4370	c.4215C>T	c.(4213-4215)ctC>ctT	p.L1405L	ATP7A_ENST00000343533.5_Silent_p.L1327L|ATP7A_ENST00000350425.4_Silent_p.L408L	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1405					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTTCTTCTCTCTTCCTTAAAC	0.373000													40	161					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129241223	129241223	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:129241223C>T	ENST00000305031.4	+	1	1059	c.701C>T	c.(700-702)cCt>cTt	p.P234L	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	234	Pro-rich.					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GACTCCTATCCTCCCCAGAAA	0.592000													31	95					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463631	179463631	+	Silent	SNP	G	G	T	rs72646828		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:179463631G>T	ENST00000589042.1	-	291	57030	c.56806C>A	c.(56806-56808)Cga>Aga	p.R18936R	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.R17295R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.R9996R|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.R9871R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.R16368R|TTN_ENST00000342175.6_Silent_p.R10063R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17295	Fibronectin type-III 37.						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)			ATAGGATCTCGGTTAACTCTC	0.443000													17	81					8.34094e-07	9.31529e-07	1	1	0
C1orf87	127795	broad.mit.edu	37	1	60476125	60476125	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:60476125C>A	ENST00000371201.3	-	9	1238	c.1131G>T	c.(1129-1131)tgG>tgT	p.W377C	C1orf87_ENST00000450089.2_Missense_Mutation_p.W148C	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	377							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CAAAATTCTGCCATCTGTGCA	0.373000													18	50					1.55795e-14	2.05055e-14	1	1	0
GPM6A	2823	broad.mit.edu	37	4	176561343	176561343	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:176561343C>T	ENST00000280187.7	-	7	666	c.621G>A	c.(619-621)ctG>ctA	p.L207L	GPM6A_ENST00000393658.2_Silent_p.L207L|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000506894.1_Silent_p.L196L|GPM6A_ENST00000515090.1_Silent_p.L200L	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	207						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		AGGTCATGTTCAGCTGCAATG	0.428000													10	49					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50718980	50718980	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:50718980C>A	ENST00000008391.3	+	7	1310	c.1082C>A	c.(1081-1083)tCc>tAc	p.S361Y	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	361	H-S-H (helix-span-helix), dimerization.						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)					CCACTGGGATCCTCCAGACCC	0.353000													43	52					2.24738e-44	3.69607e-44	1	1	0
KIF18A	81930	broad.mit.edu	37	11	28116282	28116282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:28116282C>A	ENST00000263181.6	-	3	681	c.391G>T	c.(391-393)Gga>Tga	p.G131*		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	131	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TACATCACTCCAGGTTCATCA	0.398000													36	217					2.87052e-16	3.91434e-16	1	1	0
OGFR	11054	broad.mit.edu	37	20	61444381	61444381	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:61444381G>T	ENST00000370461.1	+	5	3535	c.1258G>T	c.(1258-1260)Gcc>Tcc	p.A420S	OGFR_ENST00000290291.6_Missense_Mutation_p.A472S|OGFR_ENST00000370468.3_Intron			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	472					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					TGCTGCGGTGGCCAGTGGTGG	0.682000													5	8					1.024e-07	1.17067e-07	1	1	0
XRCC1	7515	broad.mit.edu	37	19	44047576	44047576	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:44047576G>C	ENST00000262887.5	-	17	2417	c.1870C>G	c.(1870-1872)Cac>Gac	p.H624D	XRCC1_ENST00000543982.1_Missense_Mutation_p.H593D			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	624	BRCT 2.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TAGAGCTGGTGAGGAAGTAAC	0.517000								Other BER factors					8	189					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	153584789	153584789	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:153584789C>G	ENST00000404039.1	+	1	608	c.21C>G	c.(19-21)atC>atG	p.I7M		NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGCCATGATCAAGACCGCTA	0.572000													46	20					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410036	159410036	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:159410036G>T	ENST00000423932.3	+	1	525	c.488G>T	c.(487-489)gGg>gTg	p.G163V	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	163					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)					TGCAGCATTGGGCTGATTGTA	0.502000													72	121					2.47556e-37	3.98103e-37	1	1	0
ROS1	6098	broad.mit.edu	37	6	117681112	117681112	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:117681112C>A	ENST00000368508.3	-	23	3706	c.3508G>T	c.(3508-3510)Gat>Tat	p.D1170Y	ROS1_ENST00000368507.3_Missense_Mutation_p.D1165Y|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1170					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGATTTTGATCCATATCTAAA	0.368000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								9	71					0.00621372	0.00637492	1	1	0
UPP1	7378	broad.mit.edu	37	7	48147041	48147041	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:48147041G>T	ENST00000331803.4	+	9	1353	c.730G>T	c.(730-732)Gtc>Ttc	p.V244F	UPP1_ENST00000395564.4_Missense_Mutation_p.V244F|UPP1_ENST00000429491.2_Missense_Mutation_p.V107F|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.V244F			Q16831	UPP1_HUMAN	uridine phosphorylase 1	244					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						TGCAGCCGGCGTCCGCAATAT	0.637000													23	31					5.35356e-11	6.56925e-11	1	1	0
MBD5	55777	broad.mit.edu	37	2	149226011	149226011	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:149226011C>T	ENST00000407073.1	+	9	1496	c.499C>T	c.(499-501)Cct>Tct	p.P167S	MBD5_ENST00000404807.1_Missense_Mutation_p.P167S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	167						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATGTAAGAATCCTTTCAAGTT	0.428000													7	46					0	0	1	0	0
CNOT11	55571	broad.mit.edu	37	2	101881338	101881338	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:101881338G>T	ENST00000289382.3	+	4	1027	c.864G>T	c.(862-864)ccG>ccT	p.P288P		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		TTCGTCCACCGCCTCCACTCC	0.478000													52	94					2.67592e-24	4.00009e-24	1	1	0
MFN2	9927	broad.mit.edu	37	1	12066593	12066593	+	Splice_Site	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:12066593A>G	ENST00000235329.5	+	16	2038		c.e16-1		MFN2_ENST00000444836.1_Splice_Site	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2						blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTCTCTCCTCAGGTCCAGCGT	0.592000													17	52					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851981	14851981	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr18:14851981G>A	ENST00000358984.4	+	36	3861	c.3681G>A	c.(3679-3681)gaG>gaA	p.E1227E		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1312										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATAACAATGAGGTGCTCCATC	0.358000													3	12					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186974548	186974548	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:186974548G>T	ENST00000337774.5	-	5	1037	c.648C>A	c.(646-648)atC>atA	p.I216I	MASP1_ENST00000296280.6_Silent_p.I216I|MASP1_ENST00000392472.2_Silent_p.I103I|MASP1_ENST00000169293.6_Silent_p.I216I|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Silent_p.I190I	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	216	CUB 2.|Interaction with FCN2.				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)		CCTCCAGCTCGATGGTATACA	0.517000													27	166					1.13719e-10	1.38371e-10	1	1	0
PRLR	5618	broad.mit.edu	37	5	35065407	35065407	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:35065407C>A	ENST00000382002.5	-	10	2079	c.1653G>T	c.(1651-1653)ggG>ggT	p.G551G	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Silent_p.G450G|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000511486.1_Silent_p.G450G|PRLR_ENST00000542609.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	551					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)	TATCCATGACCCCGGACACCT	0.498000													12	40					6.81908e-15	9.02983e-15	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32693083	32693083	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:32693083A>T	ENST00000421745.2	+	28	5818	c.5684A>T	c.(5683-5685)cAt>cTt	p.H1895L		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1895					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAGTTAATGCATGATCCTCTA	0.438000													32	17					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069138	6069138	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:6069138G>A	ENST00000381095.3	-	2	997	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	NLGN4X_ENST00000381093.2_Silent_p.L124L|NLGN4X_ENST00000538097.1_Silent_p.L124L|NLGN4X_ENST00000381092.1_Silent_p.L124L|NLGN4X_ENST00000275857.6_Silent_p.L124L|NLGN4X_ENST00000469740.1_5'UTR	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	124					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CAGATGGGCAGCATGTCATGC	0.493000													28	151					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175355187	175355187	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:175355187G>T	ENST00000367674.1	-	8	2466	c.1758C>A	c.(1756-1758)gcC>gcA	p.A586A	TNR_ENST00000263525.2_Silent_p.A586A	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	586	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTGAGTGGTGGCAGAATCGC	0.617000													53	133					7.1157e-29	1.10944e-28	1	1	0
TMEM217	221468	broad.mit.edu	37	6	37186472	37186472	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:37186472T>C	ENST00000336655.2	-	2	374	c.335A>G	c.(334-336)cAa>cGa	p.Q112R	TMEM217_ENST00000356757.2_Missense_Mutation_p.Q112R|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	112						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						GGTGAGGATTTGTATTACGAC	0.438000													30	88					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280951	238280951	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:238280951G>A	ENST00000295550.4	-	9	4161	c.3709C>T	c.(3709-3711)Ctc>Ttc	p.L1237F	COL6A3_ENST00000472056.1_Missense_Mutation_p.L630F|COL6A3_ENST00000392004.3_Missense_Mutation_p.L1031F|COL6A3_ENST00000392003.2_Missense_Mutation_p.L830F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L1031F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L1031F|COL6A3_ENST00000346358.4_Missense_Mutation_p.L1037F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L1036F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1237	Nonhelical region.|VWFA 7.				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)		CCATCGATGAGAAAGACCACG	0.557000													10	71					0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380818	3380818	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:3380818C>T	ENST00000354599.6	-	4	1308	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I	ZNF195_ENST00000343338.7_Missense_Mutation_p.V406I|ZNF195_ENST00000399602.4_Missense_Mutation_p.V474I|ZNF195_ENST00000526601.1_Missense_Mutation_p.V455I|ZNF195_ENST00000429541.2_Missense_Mutation_p.V406I|ZNF195_ENST00000005082.9_Missense_Mutation_p.V451I|ZNF195_ENST00000528796.1_Intron	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	474				Missing (in Ref. 2; BAD18466).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTTCTGAAGACCTTCCCACAT	0.443000													19	112					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95650981	95650981	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:95650981A>T	ENST00000436874.1	+	3	329	c.224A>T	c.(223-225)cAg>cTg	p.Q75L	VEZT_ENST00000261219.6_Missense_Mutation_p.Q27L|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	75						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTTTTTTCTCAGTGCAATAAG	0.343000													8	14					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19013082	19013082	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:19013082C>A	ENST00000379878.3	-	27	2994	c.2753G>T	c.(2752-2754)aGc>aTc	p.S918I	GPR64_ENST00000379876.1_Missense_Mutation_p.S910I|GPR64_ENST00000360279.4_Missense_Mutation_p.S912I|GPR64_ENST00000340581.3_Missense_Mutation_p.S815I|GPR64_ENST00000357991.3_Missense_Mutation_p.S931I|GPR64_ENST00000379873.2_Intron|GPR64_ENST00000356606.4_Missense_Mutation_p.S920I|GPR64_ENST00000357544.3_Missense_Mutation_p.S904I|GPR64_ENST00000354791.3_Missense_Mutation_p.S918I|GPR64_ENST00000379869.3_Missense_Mutation_p.S934I	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	934					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GGAGTTACTGCTTGACTGTAA	0.413000													42	173					6.57855e-14	8.60652e-14	1	1	0
KRT83	3889	broad.mit.edu	37	12	52713060	52713060	+	Missense_Mutation	SNP	G	G	A	rs145476924		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:52713060G>A	ENST00000293670.3	-	2	535	c.473C>T	c.(472-474)cCc>cTc	p.P158L		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	158	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCAAACAGGGGCTCCAGGTT	0.617000													42	81					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:111630550G>A	ENST00000369680.4	-	18	1754	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C	XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000502935.1_Silent_p.C545C	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	502					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498000													4	148					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													4	125					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101578648	101578648	+	Silent	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:101578648G>C	ENST00000370449.4	+	18	2486	c.2373G>C	c.(2371-2373)gtG>gtC	p.V791V		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	791	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGTCTGCAGTGGATGCTCATG	0.433000													29	39					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8048231	8048231	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:8048231C>A	ENST00000317276.4	-	18	2536	c.2299G>T	c.(2299-2301)Gac>Tac	p.D767Y	PER1_ENST00000578089.1_Intron|PER1_ENST00000354903.5_Missense_Mutation_p.D751Y|PER1_ENST00000581082.1_Missense_Mutation_p.D747Y	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	767	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ggggctgggtcaggggctact	0.652000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					14	4					7.93312e-07	8.87123e-07	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91456415	91456415	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:91456415G>T	ENST00000373094.1	+	3	3920	c.3075G>T	c.(3073-3075)gaG>gaT	p.E1025D	PCDH11X_ENST00000504220.1_Missense_Mutation_p.E1025D|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000373097.1_Missense_Mutation_p.E1025D|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000361655.2_Missense_Mutation_p.E1025D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.E1025D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1025					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						CCATGAAAGAGTCTACAACTA	0.378000													36	46					2.59497e-14	3.41031e-14	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14851982	14851982	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr18:14851982G>A	ENST00000358984.4	+	36	3862	c.3682G>A	c.(3682-3684)Gtg>Atg	p.V1228M		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1313										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAACAATGAGGTGCTCCATCA	0.358000													3	12					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107754476	107754476	+	Silent	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:107754476A>G	ENST00000445937.1	+	14	2523	c.2262A>G	c.(2260-2262)ccA>ccG	p.P754P	OXR1_ENST00000531443.1_Silent_p.P754P|OXR1_ENST00000521592.1_Silent_p.P27P|OXR1_ENST00000442977.2_Silent_p.P782P|OXR1_ENST00000297447.6_Silent_p.P151P|OXR1_ENST00000452423.2_Silent_p.P202P|OXR1_ENST00000449762.2_Silent_p.P124P|OXR1_ENST00000517566.2_Silent_p.P781P|OXR1_ENST00000312046.6_Silent_p.P747P	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	782	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CATCTGAGCCACTGAAAGTGA	0.343000													27	28					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515343	51515343	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:51515343T>C	ENST00000328188.1	+	1	62	c.62T>C	c.(61-63)aTg>aCg	p.M21T		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AATCCAAAGATGCAGAAAATC	0.388000													65	105					0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63894231	63894231	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:63894231G>T	ENST00000334025.2	+	5	977	c.651G>T	c.(649-651)agG>agT	p.R217S		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	217					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GCAAACTCAGGGAAACTATGC	0.333000													39	82					1.63429e-32	2.58046e-32	1	1	0
MAN1A1	4121	broad.mit.edu	37	6	119670121	119670121	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:119670121C>A	ENST00000368468.3	-	2	551	c.110G>T	c.(109-111)cGc>cTc	p.R37L	MAN1A1_ENST00000368466.2_Missense_Mutation_p.R37L	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	37				KGSGPAALRLTEKFVLLLV -> MNSNFITFDLKMSLLPSN L (in Ref. 2; CAA52831).	post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CTCCGTCAGGCGGAGGGCGGC	0.711000													6	16					0.00307968	0.00319347	1	1	0
FUT10	84750	broad.mit.edu	37	8	33246548	33246548	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:33246548T>C	ENST00000327671.5	-	4	1776	c.1145A>G	c.(1144-1146)aAt>aGt	p.N382S	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Missense_Mutation_p.N354S|FUT10_ENST00000335589.3_Missense_Mutation_p.N320S|FUT10_ENST00000524021.1_Missense_Mutation_p.N354S	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	382					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		ATCGATGTAATTGTCCTGGTT	0.488000													58	95					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48865227	48865227	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:48865227C>T	ENST00000371847.3	-	7	740	c.576G>A	c.(574-576)aaG>aaA	p.K192K	SPATA6_ENST00000371843.3_Silent_p.K192K|SPATA6_ENST00000396199.3_Silent_p.K120K|SPATA6_ENST00000463938.1_5'UTR	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	192					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCTCAGGTGACTTGGATTTTT	0.343000													15	75					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71037070	71037070	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:71037070G>C	ENST00000452400.2	-	20	4128	c.3947C>G	c.(3946-3948)aCt>aGt	p.T1316S	NCOA2_ENST00000267974.4_Missense_Mutation_p.T404S	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1316					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)			CGTAGCCCCAGTAAAGCCTGG	0.483000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								20	46					0	0	1	0	0
BCAS4	55653	broad.mit.edu	37	20	49446832	49446832	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:49446832C>T	ENST00000358791.5	+	3	369	c.269C>T	c.(268-270)tCa>tTa	p.S90L	BCAS4_ENST00000371608.2_Missense_Mutation_p.S90L|BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000262591.5_Missense_Mutation_p.S90L	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	90						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						AGTGATACTTCACAGATCCTG	0.522000													20	62					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40854137	40854137	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr18:40854137G>A	ENST00000255224.3	-	2	625	c.257C>T	c.(256-258)gCt>gTt	p.A86V	SYT4_ENST00000590752.1_Missense_Mutation_p.A68V|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	86						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTTTGGCACAGCTGGCTTATT	0.388000													22	45					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114193825	114193825	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:114193825G>A	ENST00000369615.1	+	14	2499	c.2437G>A	c.(2437-2439)Gga>Aga	p.G813R	MAGI3_ENST00000369611.4_Missense_Mutation_p.G813R|MAGI3_ENST00000369617.4_Missense_Mutation_p.G838R|MAGI3_ENST00000307546.9_Missense_Mutation_p.G813R	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	838	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCTTCTATGGAGGTGTGTG	0.388000													11	15					0	0	1	0	0
TBPL2	387332	broad.mit.edu	37	14	55907239	55907239	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:55907239G>T	ENST00000247219.5	-	1	95	c.25C>A	c.(25-27)Cgg>Agg	p.R9R		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	9					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTCGGAACCCGCTCCGGCCAG	0.692000													20	60					2.89027e-11	3.58196e-11	1	1	0
CEP85L	387119	broad.mit.edu	37	6	118887426	118887426	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:118887426T>C	ENST00000368491.3	-	3	907	c.286A>G	c.(286-288)Act>Gct	p.T96A	CEP85L_ENST00000360290.3_5'UTR|CEP85L_ENST00000419517.2_Missense_Mutation_p.T96A|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000368488.5_Missense_Mutation_p.T99A|CEP85L_ENST00000392500.3_Missense_Mutation_p.T99A	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	96						centrosome											GTAGGAAGAGTAATCAATGAT	0.378000													10	21					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128505781	128505781	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:128505781C>G	ENST00000368227.3	-	7	1324	c.958G>C	c.(958-960)Gat>Cat	p.D320H	PTPRK_ENST00000532331.1_Missense_Mutation_p.D320H|PTPRK_ENST00000368207.3_Missense_Mutation_p.D320H|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.D320H|PTPRK_ENST00000368213.5_Missense_Mutation_p.D320H|PTPRK_ENST00000368226.4_Missense_Mutation_p.D320H|PTPRK_ENST00000368215.3_Missense_Mutation_p.D320H			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	320	Fibronectin type-III 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATAGGACCATCGCCAATGATC	0.458000													44	161					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104067779	104067779	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:104067779C>A	ENST00000388887.2	+	23	2670	c.2466C>A	c.(2464-2466)ctC>ctA	p.L822L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	822					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						CCGGGAGACTCTGTGATAAGC	0.562000													29	79					1.06801e-11	1.33119e-11	1	1	0
CYR61	3491	broad.mit.edu	37	1	86048253	86048253	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:86048253A>T	ENST00000451137.2	+	4	1013	c.789A>T	c.(787-789)gaA>gaT	p.E263D		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	263	TSP type-1.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TTGTGAAAGAAACCCGGATTT	0.522000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	45					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119325793	119325793	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:119325793G>T	ENST00000273371.4	+	2	318	c.246G>T	c.(244-246)ctG>ctT	p.L82L	PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000495992.1_Silent_p.L82L|PLA1A_ENST00000494440.1_Silent_p.L66L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	82					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATGCCACTCTGGGAACCAAAC	0.423000													147	99					5.69961e-89	9.6098e-89	1	1	0
KRT31	3881	broad.mit.edu	37	17	39553642	39553642	+	Silent	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:39553642G>C	ENST00000251645.2	-	1	202	c.150C>G	c.(148-150)ggC>ggG	p.G50G		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	50	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CATTGAAGGAGCCCTCGCAGA	0.647000													34	143					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201355563	201355563	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:201355563C>A	ENST00000391967.2	-	3	1227	c.926G>T	c.(925-927)aGa>aTa	p.R309I	LAD1_ENST00000367313.3_Missense_Mutation_p.R323I	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	309						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGCCCTTCCTCTCTGCTCCTT	0.677000													4	20					0.0293803	0.0298609	1	1	0
BMP15	9210	broad.mit.edu	37	X	50658940	50658940	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:50658940C>G	ENST00000252677.3	+	2	512	c.512C>G	c.(511-513)tCc>tGc	p.S171C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	171					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GAAGGAGATTCCTCAAAACCT	0.483000													6	48					0	0	1	0	0
TAS2R42	353164	broad.mit.edu	37	12	11339406	11339406	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:11339406G>A	ENST00000334266.1	-	1	137	c.138C>T	c.(136-138)ttC>ttT	p.F46F		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	46					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AGGTGAGGATGAAGTCAGCTG	0.418000													61	157					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48849922	48849922	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:48849922C>T	ENST00000376441.1	-	6	409	c.375G>A	c.(373-375)ggG>ggA	p.G125G	GRIPAP1_ENST00000376425.3_Silent_p.G125G|GRIPAP1_ENST00000376423.4_Intron|GRIPAP1_ENST00000376444.3_Silent_p.G80G	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	125						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CTTGGGCAACCCCTGCTCCTG	0.597000													5	22					0	0	1	0	0
HOXB7	3217	broad.mit.edu	37	17	46685423	46685423	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:46685423G>T	ENST00000239165.7	-	2	533	c.435C>A	c.(433-435)acC>acA	p.T145T	HOXB7_ENST00000567101.1_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	145						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						TCTGGTAGCGGGTGTAGGTCT	0.587000													43	66					1.48646e-12	1.88792e-12	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72987608	72987608	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:72987608C>T	ENST00000262209.4	-	1	244	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	13						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TCCTTCTTTTCTCCAGGGCGC	0.637000													23	71					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33486448	33486448	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:33486448G>A	ENST00000268876.5	+	8	960	c.863G>A	c.(862-864)aGc>aAc	p.S288N	UNC45B_ENST00000591048.1_Missense_Mutation_p.S288N|UNC45B_ENST00000394570.2_Missense_Mutation_p.S288N|UNC45B_ENST00000378449.1_Missense_Mutation_p.S288N|UNC45B_ENST00000433649.1_Missense_Mutation_p.S288N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	288					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATGCTAGTCAGCAAGAAGGTG	0.522000													127	158					0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994526	45994526	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr21:45994526C>G	ENST00000400374.3	+	1	921	c.891C>G	c.(889-891)tgC>tgG	p.C297W	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	297	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CCTCTCTGTGCTGCCAGCAGT	0.642000													83	172					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038141	75038141	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:75038141C>G	ENST00000326665.5	-	14	3471	c.3253G>C	c.(3253-3255)Gca>Cca	p.A1085P	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1085	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						TCCTTGAGTGCATTTGCCCTT	0.433000													22	95					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261497	21261497	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:21261497A>G	ENST00000311620.5	+	2	683	c.610A>G	c.(610-612)Act>Gct	p.T204A		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	204										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CATTAAAGACACTTTCAAGAT	0.483000													19	59					0	0	1	0	0
RAB27A	5873	broad.mit.edu	37	15	55516089	55516089	+	Silent	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:55516089A>G	ENST00000396307.2	-	5	716	c.465T>C	c.(463-465)taT>taC	p.Y155Y	RAB27A_ENST00000569493.1_Silent_p.Y155Y|RAB27A_ENST00000564609.1_Silent_p.Y155Y|RAB27A_ENST00000336787.1_Silent_p.Y155Y	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	155					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		ATACTCACCCATATTTCTCTG	0.378000													5	264					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	96743747	96743747	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:96743747G>T	ENST00000376705.2	+	1	655	c.631G>T	c.(631-633)Gac>Tac	p.D211Y		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	211						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCTGCACGCCGACTGGACGGA	0.647000													5	12					0.00116845	0.00122181	1	1	0
IRF6	3664	broad.mit.edu	37	1	209969723	209969723	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:209969723G>A	ENST00000367021.3	-	4	521	c.349C>T	c.(349-351)Cct>Tct	p.P117S	IRF6_ENST00000542854.1_Missense_Mutation_p.P22S	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	117					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGGGGCTGAGGGATGTCACAC	0.532000										HNSCC(57;0.16)			21	44					0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15298613	15298613	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:15298613C>T	ENST00000383791.3	-	8	1117	c.897G>A	c.(895-897)tcG>tcA	p.S299S	SH3BP5_ENST00000253688.5_Silent_p.S142S|SH3BP5_ENST00000426925.1_Silent_p.S142S|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000408919.3_Silent_p.S142S	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	299	Ser-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						CAAAGGCCTCCGAGGCCACTA	0.527000													16	30					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106053610	106053610	+	RNA	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:106053610C>A	ENST00000390539.2	-	0	686																											CCAGCTCGTTCAGGGCCAGCT	0.677000													22	71					5.35047e-06	5.84054e-06	1	1	0
PGR	5241	broad.mit.edu	37	11	100996764	100996764	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:100996764T>A	ENST00000325455.5	-	2	3216	c.1763A>T	c.(1762-1764)aAg>aTg	p.K588M	PGR_ENST00000263463.5_Missense_Mutation_p.K588M|PGR_ENST00000534013.1_De_novo_Start_InFrame	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	588					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AAAGAAGACCTTACAGCTCCC	0.408000													16	30					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92998465	92998465	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:92998465A>G	ENST00000523629.1	-	9	1620	c.1166T>C	c.(1165-1167)tTg>tCg	p.L389S	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.L352S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.L362S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.L352S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.L362S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.L389S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.L400S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.L352S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	389					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCAGTAATTCAATTCTTCCCG	0.502000													33	95					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	802801	802801	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:802801C>A	ENST00000347755.5	-	4	941	c.800G>T	c.(799-801)cGg>cTg	p.R267L	PIDD_ENST00000411829.2_Missense_Mutation_p.R267L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	267					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CAGGTCGAGCCGGGTGAGGAG	0.687000													11	7					5.50884e-06	6.00587e-06	1	1	0
METTL25	84190	broad.mit.edu	37	12	82792890	82792890	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:82792890G>C	ENST00000248306.3	+	4	917	c.848G>C	c.(847-849)gGc>gCc	p.G283A	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		GATTTTTCTGGCTCTGTAATT	0.323000													8	52					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153186551	153186551	+	Splice_Site	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:153186551G>A	ENST00000370028.3	-	4	554	c.498_splice	c.e4+1	p.T166_splice	ARHGAP4_ENST00000537206.1_Splice_Site_p.T143_splice|ARHGAP4_ENST00000370016.1_Intron|ARHGAP4_ENST00000393721.1_Splice_Site_p.T166_splice|ARHGAP4_ENST00000350060.5_Splice_Site_p.T166_splice	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	166					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTCACCGTCTGGAGCTC	0.627000													6	8					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102023308	102023308	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:102023308G>T	ENST00000549145.1	+	5	339	c.239G>T	c.(238-240)gGa>gTa	p.G80V	MYBPC1_ENST00000553190.1_Missense_Mutation_p.G67V|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G53V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.G67V|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G41V|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G67V|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G67V|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G67V|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G67V|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G92V|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G92V|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G55V|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G54V|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G67V			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	67	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCTCAAGGAGGAACAGTGAAA	0.488000													13	29					1.3612e-06	1.51052e-06	1	1	0
CXCR2	3579	broad.mit.edu	37	2	219000221	219000221	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:219000221T>A	ENST00000318507.2	+	3	1124	c.697T>A	c.(697-699)Ttc>Atc	p.F233I		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	233					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CTGCTACGGATTCACCCTGCG	0.572000													112	192					0	0	1	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931158	102931158	+	Silent	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:102931158A>G	ENST00000423833.2	-	3	2023	c.798T>C	c.(796-798)aaT>aaC	p.N266N	MORF4L2_ENST00000422154.2_Silent_p.N266N|MORF4L2_ENST00000372620.1_Silent_p.N148N|MORF4L2_ENST00000433176.2_Silent_p.N266N|MORF4L2_ENST00000360458.1_Silent_p.N266N|MORF4L2_ENST00000451301.1_Silent_p.N266N|MORF4L2_ENST00000441076.2_Silent_p.N266N			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	266					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GAGATGCAGAATTCTTTGCCA	0.438000													59	103					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121623815	121623815	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:121623815C>A	ENST00000393386.2	+	7	1127	c.716C>A	c.(715-717)cCc>cAc	p.P239H	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P239H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	239	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACATCTCCTCCCTGCACAGAC	0.383000													34	139					9.45814e-24	1.4066e-23	1	1	0
OXR1	55074	broad.mit.edu	37	8	107751703	107751703	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:107751703C>T	ENST00000445937.1	+	12	2235	c.1974C>T	c.(1972-1974)gaC>gaT	p.D658D	OXR1_ENST00000531443.1_Silent_p.D658D|OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000442977.2_Silent_p.D686D|OXR1_ENST00000297447.6_Silent_p.D55D|OXR1_ENST00000452423.2_Intron|OXR1_ENST00000449762.2_Silent_p.D28D|OXR1_ENST00000517566.2_Silent_p.D685D|OXR1_ENST00000312046.6_Silent_p.D651D	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	686					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CAAGGGAAGACATAAATTCAA	0.363000													15	48					0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55752401	55752401	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:55752401G>T	ENST00000284073.2	+	12	1068	c.859G>T	c.(859-861)Ggc>Tgc	p.G287C	MSI2_ENST00000442934.2_Missense_Mutation_p.G226C|MSI2_ENST00000416426.2_Missense_Mutation_p.G283C|MSI2_ENST00000579505.1_3'UTR	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	287						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CGATCTCTACGGCCCTGCCAG	0.687000			T	HOXA9	CML								30	164					2.51541e-25	3.79273e-25	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104449158	104449158	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:104449158T>C	ENST00000361820.3	-	2	1624	c.1024A>G	c.(1024-1026)Aca>Gca	p.T342A		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	342					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AACTGGGTTGTAATTTCGAAA	0.517000													31	31					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173322699	173322699	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:173322699G>T	ENST00000457714.1	+	3	740	c.311G>T	c.(310-312)tGg>tTg	p.W104L	NLGN1_ENST00000545397.1_Missense_Mutation_p.W104L|NLGN1_ENST00000401917.3_Missense_Mutation_p.W104L|NLGN1_ENST00000361589.4_Missense_Mutation_p.W104L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	104					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)			CCATCTCCCTGGTCAGATATC	0.463000													34	368					3.33393e-15	4.44865e-15	1	1	0
ADARB1	104	broad.mit.edu	37	21	46624488	46624488	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr21:46624488C>T	ENST00000539173.1	+	10	2139	c.1704C>T	c.(1702-1704)atC>atT	p.I568I	ADARB1_ENST00000389863.4_Silent_p.I568I|ADARB1_ENST00000360697.3_Silent_p.I568I|ADARB1_ENST00000348831.4_Silent_p.I528I|ADARB1_ENST00000437626.1_3'UTR	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	568	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TGGTGGGCATCCAGGGATCCC	0.592000													6	164					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62910258	62910258	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:62910258C>A	ENST00000512091.1	+	24	4348	c.3601C>A	c.(3601-3603)Ctc>Atc	p.L1201I	LPHN3_ENST00000506700.1_Missense_Mutation_p.L1192I|LPHN3_ENST00000508693.1_Missense_Mutation_p.L1269I|LPHN3_ENST00000511324.1_Missense_Mutation_p.L1260I|LPHN3_ENST00000514157.1_Missense_Mutation_p.L1192I|LPHN3_ENST00000504896.1_Missense_Mutation_p.L1201I|LPHN3_ENST00000545650.1_Missense_Mutation_p.L1201I|LPHN3_ENST00000506746.1_Missense_Mutation_p.L1260I|LPHN3_ENST00000509896.1_Missense_Mutation_p.L1269I|LPHN3_ENST00000508946.1_Missense_Mutation_p.L1201I|LPHN3_ENST00000514996.1_Missense_Mutation_p.L1192I|LPHN3_ENST00000514591.1_Missense_Mutation_p.L1201I|LPHN3_ENST00000507164.1_Missense_Mutation_p.L1260I|LPHN3_ENST00000507625.1_Missense_Mutation_p.L1260I|LPHN3_ENST00000506720.1_Missense_Mutation_p.L1269I			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1179					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						TTCAGCGTCACTCAACAGAGG	0.373000													3	7					0.004672	0.00480454	1	1	0
TRIM3	10612	broad.mit.edu	37	11	6479305	6479305	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:6479305T>C	ENST00000525074.1	-	3	747	c.353A>G	c.(352-354)cAt>cGt	p.H118R	TRIM3_ENST00000359518.3_Missense_Mutation_p.H118R|TRIM3_ENST00000537602.1_Missense_Mutation_p.H118R|TRIM3_ENST00000345851.3_Missense_Mutation_p.H118R|TRIM3_ENST00000536344.1_Start_Codon_SNP_p.M1V	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	118					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTGCCTTCATGGTTGGGGCA	0.687000													19	38					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234599592	234599592	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:234599592C>T	ENST00000040877.1	-	6	1389	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	464					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTCTTTATTTCTTCTGGAAGA	0.343000													7	11					0	0	1	0	0
FADS6	283985	broad.mit.edu	37	17	72888698	72888698	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:72888698G>A	ENST00000310226.6	-	2	323	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	109					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGACTCGGTGAGGGCCCCAT	0.602000													9	23					0	0	1	0	0
TRMT61A	115708	broad.mit.edu	37	14	104000956	104000956	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:104000956G>T	ENST00000389749.4	+	4	775	c.668G>T	c.(667-669)cGc>cTc	p.R223L		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	223						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						CTGGCAGCGCGCGGCTTCTCA	0.667000													13	38					1.5842e-08	1.85249e-08	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51901935	51901935	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:51901935C>T	ENST00000268919.4	+	1	1697	c.1541C>T	c.(1540-1542)aCt>aTt	p.T514I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	514					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AACTCCTCCACTTGCATGATT	0.448000													17	43					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163297	32163297	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:32163297C>G	ENST00000375023.3	-	30	6067	c.5929G>C	c.(5929-5931)Gag>Cag	p.E1977Q	GPSM3_ENST00000375043.3_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1977					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	p.E1977Q(2)|p.E1977K(1)		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						GATCCCCGCTCCGGGGACGGA	0.567000													18	124					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695657	109695657	+	Silent	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:109695657A>T	ENST00000465301.2	+	3	2058	c.1812A>T	c.(1810-1812)ccA>ccT	p.P604P	RGAG1_ENST00000540313.1_Silent_p.P604P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	604										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						TGTCCTGTCCACAAATGAGAT	0.502000													41	55					0	0	1	0	0
LYZL1	84569	broad.mit.edu	37	10	29578131	29578131	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:29578131G>T	ENST00000375500.3	+	1	142	c.85G>T	c.(85-87)Ggg>Tgg	p.G29W		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				GTCAGCCTCTGGGGCAGGCAC	0.517000													16	12					1.15919e-05	1.25904e-05	1	1	0
CCNT2	905	broad.mit.edu	37	2	135710914	135710914	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:135710914A>G	ENST00000264157.5	+	9	919	c.889A>G	c.(889-891)Aca>Gca	p.T297A	CCNT2_ENST00000537343.1_Missense_Mutation_p.T122A|CCNT2_ENST00000295238.6_Missense_Mutation_p.T297A	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	297					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		tggtgtgcctacaaacccaag	0.408000													3	12					0	0	1	0	0
SEPT3	55964	broad.mit.edu	37	22	42385649	42385649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:42385649C>A	ENST00000396425.3	+	6	761	c.630C>A	c.(628-630)gaC>gaA	p.D210E	SEPT3_ENST00000291236.11_Missense_Mutation_p.D146E|SEPT3_ENST00000396426.3_Missense_Mutation_p.D210E|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Missense_Mutation_p.D146E	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	210					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CTAAGGCTGACACCATGACCC	0.517000													29	64					4.4194e-11	5.46925e-11	1	1	0
SSTR1	6751	broad.mit.edu	37	14	38679255	38679255	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:38679255G>T	ENST00000267377.2	+	3	1278	c.661G>T	c.(661-663)Gtg>Ttg	p.V221L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	221					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	ACGCTGGCTGGTGGGCTTCGT	0.607000													28	56					3.90053e-15	5.18877e-15	1	1	0
MYLK	4638	broad.mit.edu	37	3	123419499	123419499	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:123419499G>C	ENST00000360772.3	-	19	3194	c.2816C>G	c.(2815-2817)tCt>tGt	p.S939C	MYLK_ENST00000359169.1_Missense_Mutation_p.S939C|MYLK_ENST00000360304.3_Missense_Mutation_p.S939C|MYLK_ENST00000346322.5_Missense_Mutation_p.S870C|MYLK_ENST00000475616.1_Missense_Mutation_p.S939C			Q15746	MYLK_HUMAN	myosin light chain kinase	939	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCTTCCTCAGACACAGTCTT	0.572000													16	92					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70787407	70787407	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:70787407G>C	ENST00000373719.3	+	20	2864	c.2647G>C	c.(2647-2649)Gaa>Caa	p.E883Q	OGT_ENST00000373701.3_Missense_Mutation_p.E873Q	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	883					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AGCAGTAGGAGAACCTAATAT	0.423000													24	62					0	0	1	0	0
ZNF92	168374	broad.mit.edu	37	7	64852854	64852854	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:64852854C>G	ENST00000328747.7	+	2	242	c.43C>G	c.(43-45)Cta>Gta	p.L15V	ZNF92_ENST00000431504.1_Intron|ZNF92_ENST00000450302.2_Intron|ZNF92_ENST00000357512.2_Missense_Mutation_p.L15V	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	15	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				AGAATTCTCTCTAGAGGAATG	0.423000													28	59					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76919800	76919800	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:76919800G>T	ENST00000409709.3	+	44	6275	c.6003G>T	c.(6001-6003)acG>acT	p.T2001T	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Silent_p.T1952T|MYO7A_ENST00000458637.2_Silent_p.T1963T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2001	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGACCACCACGGTGCCAGGGA	0.572000													4	1					0.0215528	0.0219566	1	1	0
MYH7	4625	broad.mit.edu	37	14	23886772	23886772	+	Missense_Mutation	SNP	G	G	T	rs45560242		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:23886772G>T	ENST00000355349.3	-	31	4455	c.4293C>A	c.(4291-4293)gaC>gaA	p.D1431E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1431					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGCGCTCTACGTCCACCATCA	0.602000													37	94					1.22674e-20	1.767e-20	1	1	0
SENP6	26054	broad.mit.edu	37	6	76373226	76373226	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:76373226A>T	ENST00000370014.3	+	9	1605	c.986A>T	c.(985-987)aAt>aTt	p.N329I	SENP6_ENST00000447266.2_Missense_Mutation_p.N329I|SENP6_ENST00000370010.2_Missense_Mutation_p.N322I|SENP6_ENST00000327284.8_Missense_Mutation_p.N322I	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	329					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TCAGACCTAAATGATCCAAGT	0.318000													16	27					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869491	22869491	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:22869491C>A	ENST00000302097.3	-	2	716	c.464G>T	c.(463-465)gGa>gTa	p.G155V		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TCTGCCTCCTCCAGAGACCAT	0.458000													19	60					1.9806e-07	2.2495e-07	1	1	0
SLC46A3	283537	broad.mit.edu	37	13	29278158	29278158	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:29278158G>A	ENST00000266943.6	-	5	1592	c.1223C>T	c.(1222-1224)tCa>tTa	p.S408L	SLC46A3_ENST00000380814.4_Missense_Mutation_p.S408L|SLC46A3_ENST00000475385.1_5'UTR	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	408					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AACAGTGGCTGAGTAAATTCC	0.418000													22	56					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39796193	39796193	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:39796193G>T	ENST00000553728.1	+	24	3616	c.3403G>T	c.(3403-3405)Gac>Tac	p.D1135Y	CTAGE5_ENST00000557038.1_Missense_Mutation_p.D520Y|CTAGE5_ENST00000348007.3_Missense_Mutation_p.D557Y|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.D571Y|CTAGE5_ENST00000396158.2_Missense_Mutation_p.D605Y|CTAGE5_ENST00000396165.4_Missense_Mutation_p.D571Y|CTAGE5_ENST00000556148.1_Missense_Mutation_p.D525Y|CTAGE5_ENST00000341749.3_Missense_Mutation_p.D588Y|CTAGE5_ENST00000280083.3_Missense_Mutation_p.D600Y|CTAGE5_ENST00000553352.1_Missense_Mutation_p.D571Y|CTAGE5_ENST00000341502.5_Missense_Mutation_p.D600Y																							ACCTCCATGGGACCAGGACCG	0.473000													37	68					4.17593e-13	5.36641e-13	1	1	0
TRPV2	51393	broad.mit.edu	37	17	16338205	16338205	+	Splice_Site	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:16338205G>T	ENST00000338560.7	+	14	2515	c.2114_splice	c.e14-1	p.V706_splice	TRPV2_ENST00000577397.1_Splice_Site_p.V276_splice	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	706					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGCCCTCAGGGTGGAGGAGGT	0.632000													9	71					0.010729	0.0109686	1	1	0
CASKIN2	57513	broad.mit.edu	37	17	73500776	73500776	+	Splice_Site	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:73500776T>A	ENST00000321617.3	-	12	1779		c.e12-2		CASKIN2_ENST00000433559.2_Splice_Site	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2							cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTCACCTGCTGTGGGGGGCA	0.657000													6	20					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504819	70504819	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:70504819C>G	ENST00000310961.5	+	22	3631	c.3213C>G	c.(3211-3213)atC>atG	p.I1071M	LRRC7_ENST00000415775.2_Missense_Mutation_p.I350M|LRRC7_ENST00000035383.5_Missense_Mutation_p.I1066M			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1066						centrosome|focal adhesion|nucleolus	protein binding	p.I1066I(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCAAAAACATCGCCAAGGATT	0.468000													13	30					0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227947114	227947114	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:227947114G>C	ENST00000366759.4	+	3	1465	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q	SNAP47_ENST00000366760.1_Missense_Mutation_p.E109Q|SNAP47_ENST00000315781.5_Missense_Mutation_p.E351Q	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	351						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGAGCTGTTAGAAGATGCATT	0.507000													37	161					0	0	1	0	0
CAMK2D	817	broad.mit.edu	37	4	114473230	114473230	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:114473230C>T	ENST00000454265.2	-	5	1156	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	CAMK2D_ENST00000296402.5_Missense_Mutation_p.E100K|CAMK2D_ENST00000515496.1_Missense_Mutation_p.E100K|CAMK2D_ENST00000394524.3_Missense_Mutation_p.E100K|CAMK2D_ENST00000511664.1_Missense_Mutation_p.E100K|CAMK2D_ENST00000342666.5_Missense_Mutation_p.E100K|CAMK2D_ENST00000394522.3_Missense_Mutation_p.E100K|CAMK2D_ENST00000418639.2_Missense_Mutation_p.E100K|CAMK2D_ENST00000508738.1_Missense_Mutation_p.E100K|CAMK2D_ENST00000394526.2_Missense_Mutation_p.E100K|CAMK2D_ENST00000379773.2_Missense_Mutation_p.E100K|CAMK2D_ENST00000429180.1_Missense_Mutation_p.E100K|CAMK2D_ENST00000505990.1_Missense_Mutation_p.E100K|CAMK2D_ENST00000514328.1_Missense_Mutation_p.E100K			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	100	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ACTATGTCTTCAAACAGTTCA	0.348000													4	80					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105797470	105797470	+	Silent	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:105797470T>C	ENST00000353479.5	-	46	3422	c.3132A>G	c.(3130-3132)ccA>ccG	p.P1044P	COL17A1_ENST00000369733.3_Silent_p.P999P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1044	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGACAGGTCCTGGGGGACCAG	0.572000													14	21					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71571143	71571143	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:71571143G>C	ENST00000395275.2	-	4	769	c.381C>G	c.(379-381)gaC>gaG	p.D127E	CALN1_ENST00000431984.1_Missense_Mutation_p.D85E|CALN1_ENST00000329008.5_Missense_Mutation_p.D85E|CALN1_ENST00000395276.2_Missense_Mutation_p.D85E|CALN1_ENST00000405452.2_Missense_Mutation_p.D85E|CALN1_ENST00000412588.1_Missense_Mutation_p.D127E	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	85						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)				TACCGTCCATGTCCAAGCGCT	0.572000													12	27					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974689	49974689	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:49974689G>T	ENST00000555099.1	+	1	747	c.715G>T	c.(715-717)Gtc>Ttc	p.V239F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTCTACCTGTGTCTCCCACAT	0.463000													84	101					1.14225e-51	1.89648e-51	1	1	0
SIDT2	51092	broad.mit.edu	37	11	117050138	117050138	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:117050138C>A	ENST00000324225.4	+	1	690	c.159C>A	c.(157-159)ttC>ttA	p.F53L	SIDT2_ENST00000431081.2_Missense_Mutation_p.F53L	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	53						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TCTACACCTTCAACCATACTG	0.627000													14	31					2.35188e-11	2.91888e-11	1	1	0
OR2M3	127062	broad.mit.edu	37	1	248367020	248367020	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:248367020C>A	ENST00000456743.1	+	1	689	c.651C>A	c.(649-651)tcC>tcA	p.S217S		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATTGCTTCCTATGCTCGAG	0.418000													139	266					3.02213e-73	5.066e-73	1	1	0
SSTR4	6754	broad.mit.edu	37	20	23016520	23016520	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:23016520G>A	ENST00000255008.3	+	1	464	c.400G>A	c.(400-402)Gtc>Atc	p.V134I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	134					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTTCACCAGCGTCTTCTGTCT	0.701000													45	166					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49509542	49509542	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:49509542T>C	ENST00000396029.3	-	5	2276	c.1709A>G	c.(1708-1710)aAt>aGt	p.N570S	ADNP_ENST00000349014.3_Missense_Mutation_p.N570S|ADNP_ENST00000396032.3_Missense_Mutation_p.N570S|ADNP_ENST00000371602.4_Missense_Mutation_p.N570S	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	570						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N570S(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATCCCTCAGATTGTATGTAGT	0.443000													25	132					0	0	1	0	0
AEN	64782	broad.mit.edu	37	15	89173308	89173308	+	Nonsense_Mutation	SNP	C	C	G	rs148031217		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:89173308C>G	ENST00000332810.3	+	4	912	c.761C>G	c.(760-762)tCa>tGa	p.S254*	AEN_ENST00000379231.3_Nonsense_Mutation_p.S254*	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	254	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						CACGGGCACTCATCAGTAGAA	0.622000													21	40					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52996875	52996875	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:52996875G>A	ENST00000259803.7	-	4	582	c.371C>T	c.(370-372)cCt>cTt	p.P124L		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	124						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					ACCTCGGCAAGGGATGAGCTT	0.517000													25	45					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541799	70541799	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:70541799C>A	ENST00000310961.5	+	24	4448	c.4030C>A	c.(4030-4032)Ctt>Att	p.L1344I	LRRC7_ENST00000415775.2_Missense_Mutation_p.L670I|LRRC7_ENST00000035383.5_Missense_Mutation_p.L1386I			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1386						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTCCCAAAGCCTTCAGCATCG	0.483000													22	55					2.52088e-20	3.61908e-20	1	1	0
FBXW7	55294	broad.mit.edu	37	4	153249457	153249457	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:153249457G>A	ENST00000281708.4	-	9	2550	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	FBXW7_ENST00000263981.5_Missense_Mutation_p.R361W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R441W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R323W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R441W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R265W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	441					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R441W(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTGAGTGTCCGATCTGTAGAT	0.408000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								48	194					0	0	1	0	0
POMK	84197	broad.mit.edu	37	8	42977938	42977938	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:42977938C>T	ENST00000331373.5	+	5	1226	c.971C>T	c.(970-972)gCc>gTc	p.A324V		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		324	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										AGACCCACTGCCCAGGACGTT	0.488000													49	53					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212020	26212020	+	Silent	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:26212020T>C	ENST00000379034.1	+	2	206	c.57T>C	c.(55-57)aaT>aaC	p.N19N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	19										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAGAGACCAATGGTCAGCCAC	0.577000													24	66					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34204452	34204452	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:34204452G>C	ENST00000346562.2	+	6	744	c.670G>C	c.(670-672)Gac>Cac	p.D224H	NPAS3_ENST00000548645.1_Missense_Mutation_p.D226H|NPAS3_ENST00000357798.5_Missense_Mutation_p.D243H|NPAS3_ENST00000551492.1_Missense_Mutation_p.D261H|NPAS3_ENST00000356141.4_Missense_Mutation_p.D256H	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCTAACCACTGACAACACTCT	0.468000													28	61					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178548712	178548712	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:178548712T>C	ENST00000251582.7	-	21	3229	c.3128A>G	c.(3127-3129)cAg>cGg	p.Q1043R		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1043					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGACAGCCACTGAACTACGTA	0.637000													131	120					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002357	98002357	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:98002357G>T	ENST00000355273.2	+	1	626	c.626G>T	c.(625-627)gGc>gTc	p.G209V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						ATTTTGTCTGGCTCAATTCAG	0.323000													30	31					3.69857e-22	5.41709e-22	1	1	0
OR5L1	219437	broad.mit.edu	37	11	55579154	55579154	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:55579154T>G	ENST00000333973.2	+	1	301	c.212T>G	c.(211-213)tTc>tGc	p.F71C		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTGTAGATTTCTGCTACTCC	0.453000													58	122					0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242741370	242741370	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:242741370C>T	ENST00000192314.6	+	3	425	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	98					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CCTGGCTCTTCCTGGCGCGCT	0.667000													27	39					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417304	150417304	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:150417304G>A	ENST00000307194.5	+	3	352	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACGGGCAGCCGCAGGTGGGAC	0.632000													33	29					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50904771	50904771	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:50904771A>C	ENST00000313478.7	-	16	2307	c.2026T>G	c.(2026-2028)Tca>Gca	p.S676A	TRPM7_ENST00000560955.1_Missense_Mutation_p.S676A	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	676					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AGTTCTTCTGAAGTATCATCT	0.358000													30	96					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81700540	81700540	+	Silent	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:81700540A>T	ENST00000372292.3	-	7	712	c.672T>A	c.(670-672)gtT>gtA	p.V224V		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	224					cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCAGAGAAGCAACATCTGGAG	0.522000													19	31					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17432149	17432149	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:17432149C>A	ENST00000302539.4	-	22	2736	c.2611G>T	c.(2611-2613)Gcc>Tcc	p.A871S	ABCC8_ENST00000389817.3_Missense_Mutation_p.A870S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	870	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGATGCCGGCCTGCATTAAG	0.562000													21	183					2.4624e-09	2.92263e-09	1	1	0
SIRPG	55423	broad.mit.edu	37	20	1630034	1630034	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:1630034G>C	ENST00000303415.3	-	2	158	c.94C>G	c.(94-96)Cta>Gta	p.L32V	SIRPG_ENST00000344103.4_Missense_Mutation_p.L32V|SIRPG_ENST00000381583.2_Missense_Mutation_p.L32V|SIRPG_ENST00000216927.4_Missense_Mutation_p.L32V|SIRPG_ENST00000381580.1_5'UTR	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	32	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ATCATCTGTAGCTCCTCCTCA	0.473000													34	76					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4154901	4154901	+	Silent	SNP	T	T	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:4154901T>G	ENST00000078445.2	+	2	180	c.33T>G	c.(31-33)gcT>gcG	p.A11A	CREB3L3_ENST00000602257.1_Silent_p.A11A|CREB3L3_ENST00000602147.1_Silent_p.A11A|CREB3L3_ENST00000595923.1_Silent_p.A11A|CREB3L3_ENST00000252587.3_Silent_p.A2A	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	11					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGATGGCTTCTGCTGCCT	0.607000													11	64					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								3	17					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229666123	229666123	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:229666123C>A	ENST00000344517.4	-	8	1510	c.1468G>T	c.(1468-1470)Ggt>Tgt	p.G490C		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	490						integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TCCAAAGCACCCTGGAAGCTT	0.413000													61	97					5.45122e-27	8.32029e-27	1	1	0
PHEX	5251	broad.mit.edu	37	X	22056629	22056629	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:22056629G>A	ENST00000379374.4	+	2	726	c.161G>A	c.(160-162)tGc>tAc	p.C54Y	PHEX_ENST00000535894.1_5'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.C54Y	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	54					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CAGGAGTACTGCCTGAAGCCA	0.453000													53	213					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133801006	133801006	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:133801006C>A	ENST00000321016.8	-	11	1622	c.1392G>T	c.(1390-1392)aaG>aaT	p.K464N	IGSF9B_ENST00000533871.2_Missense_Mutation_p.K464N			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	464	Ig-like 5.					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)		GGGCACTGTGCTTGCTTCTGC	0.607000													19	86					1.9806e-07	2.2495e-07	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207176298	207176298	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:207176298G>A	ENST00000374423.3	+	5	7432	c.7046G>A	c.(7045-7047)aGa>aAa	p.R2349K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2349							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAAACTGAGAGGTAATGAG	0.403000													5	39					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476845	110476845	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:110476845C>A	ENST00000378402.5	+	49	7888	c.7784C>A	c.(7783-7785)cCa>cAa	p.P2595Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2595					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGATGGGCCATCCTATGAC	0.443000										HNSCC(38;0.096)			22	18					1.10923e-09	1.32742e-09	1	1	0
IRF2BP1	26145	broad.mit.edu	37	19	46387494	46387494	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:46387494G>A	ENST00000302165.3	-	1	1882	c.1539C>T	c.(1537-1539)acC>acT	p.T513T		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	513	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGACGAAGTGGGTGTCTTCTA	0.701000													19	21					0	0	1	0	0
RRP9	9136	broad.mit.edu	37	3	51969221	51969221	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:51969221C>T	ENST00000232888.6	-	11	1099	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	342			A -> E (in a breast cancer sample; somatic mutation).		rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		ACCCATCGTCCGCGCCGGACA	0.642000													10	27					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33874835	33874835	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:33874835T>A	ENST00000374408.3	-	4	1843	c.1747A>T	c.(1747-1749)Agg>Tgg	p.R583W		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	583										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACAGCCTCCTGTCCTCCAGG	0.632000													21	63					0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163044232	163044232	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:163044232G>C	ENST00000421743.2	+	6	951	c.791G>C	c.(790-792)cGc>cCc	p.R264P	RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367906.3_Missense_Mutation_p.R149P|RGS4_ENST00000527809.1_Missense_Mutation_p.R149P|RGS4_ENST00000367909.6_Missense_Mutation_p.R167P|RGS4_ENST00000367908.4_3'UTR	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	167					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TCCTACCGCCGCTTCCTCAAG	0.502000													132	184					0	0	1	0	0
C14orf183	196913	broad.mit.edu	37	14	50550584	50550584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:50550584G>A	ENST00000305273.1	-	5	759	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	RP11-58E21.5_ENST00000556019.2_lincRNA	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	254										endometrium(2)|large_intestine(2)|lung(3)	7						CCCACCCACTGGCCACGGCCA	0.672000													10	29					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57112965	57112965	+	Silent	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:57112965A>T	ENST00000262510.6	+	44	5310	c.5085A>T	c.(5083-5085)ctA>ctT	p.L1695L	NLRC5_ENST00000539144.1_Silent_p.L1666L|NLRC5_ENST00000308149.7_Silent_p.L1666L|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1695					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCCCCAGCCTACCATTCAGCC	0.642000													44	43					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668420	176668420	+	Silent	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:176668420C>G	ENST00000367662.3	+	8	4095	c.2931C>G	c.(2929-2931)tcC>tcG	p.S977S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	977					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						TCATGGAGTCCTCGCAGGTCC	0.557000													54	244					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183087	60183087	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:60183087C>T	ENST00000300187.6	+	5	923	c.646C>T	c.(646-648)Cct>Tct	p.P216S	MS4A14_ENST00000395005.2_Missense_Mutation_p.P199S|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.P249S|MS4A14_ENST00000531787.1_Missense_Mutation_p.P104S	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	216						integral to membrane	receptor activity	p.P216T(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTCTAGGAGTCCTTTAGTCTC	0.383000													45	62					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722397	64722397	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:64722397G>A	ENST00000338957.4	+	5	1886	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D596N	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	596							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTGTAGCTGATACCCATCC	0.493000													6	32					0	0	1	0	0
LDLRAD4	753	broad.mit.edu	37	18	13645561	13645561	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr18:13645561C>A	ENST00000361205.4	+	7	1494	c.826C>A	c.(826-828)Cac>Aac	p.H276N	LDLRAD4_ENST00000359446.5_Missense_Mutation_p.H276N|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.H239N|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.H221N|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.H199N|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.H258N|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.H178N	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		CAGCAACGCACACAGGGGCAG	0.577000													8	33					0.0381472	0.0387259	1	1	0
ARHGAP29	9411	broad.mit.edu	37	1	94643704	94643704	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:94643704C>A	ENST00000260526.6	-	21	2682	c.2500G>T	c.(2500-2502)Gaa>Taa	p.E834*	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	834	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATCTTGTTTTCTTCTGCATGA	0.423000													22	56					1.17739e-12	1.49756e-12	1	1	0
COQ3	51805	broad.mit.edu	37	6	99817544	99817544	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:99817544C>A	ENST00000254759.3	-	7	1066	c.1042G>T	c.(1042-1044)Gga>Tga	p.G348*	COQ3_ENST00000369242.1_Nonsense_Mutation_p.G120*|COQ3_ENST00000369240.1_Nonsense_Mutation_p.G120*	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	348					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TCTGTTTCTCCCTTTAAAACA	0.433000													68	138					3.4779e-39	5.60328e-39	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143094128	143094128	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:143094128C>A	ENST00000367603.2	-	5	2490	c.1748G>T	c.(1747-1749)gGc>gTc	p.G583V	HIVEP2_ENST00000367604.1_Missense_Mutation_p.G583V|HIVEP2_ENST00000012134.2_Missense_Mutation_p.G583V	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGGGGGTATGCCCACGGTCCC	0.507000													42	77					1.32136e-16	1.81036e-16	1	1	0
FSCB	84075	broad.mit.edu	37	14	44976072	44976072	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:44976072C>A	ENST00000340446.4	-	1	410	c.119G>T	c.(118-120)aGc>aTc	p.S40I		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	40						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGCAGAGTAGCTGCCTTTGCT	0.413000													44	109					1.5731e-28	2.43957e-28	1	1	0
MICAL1	64780	broad.mit.edu	37	6	109772820	109772820	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:109772820G>T	ENST00000368952.4	-	7	1263	c.973C>A	c.(973-975)Ctg>Atg	p.L325M	MICAL1_ENST00000358807.3_Missense_Mutation_p.L306M|MICAL1_ENST00000358577.3_Missense_Mutation_p.L306M			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	306					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGCACCCCCAGCCGCAGCAGG	0.617000													14	59					9.16793e-09	1.08077e-08	1	1	0
HTR5A	3361	broad.mit.edu	37	7	154862650	154862650	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:154862650C>A	ENST00000287907.2	+	1	617	c.41C>A	c.(40-42)aCc>aAc	p.T14N	AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000543018.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	14						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TCCCTCTCCACCCCCTCCCCT	0.587000													135	83					6.91809e-85	1.16417e-84	1	1	0
LMO7	4008	broad.mit.edu	37	13	76429423	76429423	+	Silent	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:76429423C>G	ENST00000341547.4	+	28	5103	c.3843C>G	c.(3841-3843)tcC>tcG	p.S1281S	LMO7_ENST00000526202.1_Silent_p.S1207S|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000357063.3_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000321797.8_Silent_p.S1330S	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	1615						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GCATATGCTCCTACTGCAATA	0.458000													6	40					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156917216	156917216	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:156917216G>A	ENST00000368194.3	-	26	3407	c.2368C>T	c.(2368-2370)Ctg>Ttg	p.L790L	ARHGEF11_ENST00000361409.2_Silent_p.L750L|ARHGEF11_ENST00000315174.8_Silent_p.L166L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	750	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTGTGCGCAGGTGGGAAGCT	0.577000													19	21					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19563486	19563486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:19563486C>T	ENST00000409832.3	+	5	1052	c.1000C>T	c.(1000-1002)Caa>Taa	p.Q334*	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	334										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGTATCTTCTCAAGATCTATC	0.378000													57	395					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113212946	113212946	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:113212946G>C	ENST00000295872.4	-	5	594	c.335C>G	c.(334-336)tCt>tGt	p.S112C		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	112					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						TAGATGATCAGATTTCTCCAA	0.343000													18	84					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65474909	65474909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:65474909G>T	ENST00000519389.1	+	16	2937	c.2758G>T	c.(2758-2760)Gag>Tag	p.E920*	HEPH_ENST00000336279.5_Nonsense_Mutation_p.E599*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.E866*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.E869*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.E869*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.E677*			Q9BQS7	HEPH_HUMAN	hephaestin	866	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GAACATCCCAGAGAGGTCTGG	0.502000													19	83					4.35082e-09	5.14995e-09	1	1	0
GPR142	350383	broad.mit.edu	37	17	72368472	72368472	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:72368472C>A	ENST00000335666.4	+	4	1170	c.1122C>A	c.(1120-1122)gtC>gtA	p.V374V		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	374						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CGCCCCGGGTCTTCGTCATGC	0.662000													26	148					4.72057e-08	5.4396e-08	1	1	0
LAMA1	284217	broad.mit.edu	37	18	7015747	7015747	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr18:7015747C>A	ENST00000389658.3	-	22	3193	c.3100G>T	c.(3100-3102)Ggc>Tgc	p.G1034C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1034	Laminin EGF-like 11.				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)	GCATCGTAGCCCCAGTGCCCA	0.547000													24	93					1.5548e-18	2.18174e-18	1	1	0
LINGO2	158038	broad.mit.edu	37	9	27949018	27949018	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:27949018G>C	ENST00000379992.2	-	6	2101	c.1652C>G	c.(1651-1653)aCa>aGa	p.T551R	LINGO2_ENST00000308675.3_Missense_Mutation_p.T551R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	551						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCCCAGGAATGTGAAGCAGCC	0.448000													46	34					0	0	1	0	0
PRAMEF19	645414	broad.mit.edu	37	1	13695944	13695944	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:13695944G>A	ENST00000540591.1	-	3	1067	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	PRAMEF19_ENST00000376101.2_Nonsense_Mutation_p.R272*	NM_001099790.1	NP_001093260.2			PRAME family member 19											lung(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGAGCTCGGAGGGGCTCA	0.532000													20	196					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357314	13357314	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:13357314G>T	ENST00000276297.4	-	2	676	c.267C>A	c.(265-267)gaC>gaA	p.D89E	DLC1_ENST00000316609.5_Missense_Mutation_p.D89E|DLC1_ENST00000511869.1_Missense_Mutation_p.D89E	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	89					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						CTTCATGGCTGTCATTTTCGT	0.443000													50	144					2.81731e-22	4.13332e-22	1	1	0
OR2G3	81469	broad.mit.edu	37	1	247769670	247769670	+	Silent	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:247769670A>G	ENST00000320002.2	+	1	815	c.783A>G	c.(781-783)caA>caG	p.Q261Q	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGTACCTGCAACCTAGTGACA	0.458000													7	43					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25708268	25708268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:25708268G>T	ENST00000520164.1	-	15	2075	c.1538C>A	c.(1537-1539)tCa>tAa	p.S513*	EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Nonsense_Mutation_p.S365*	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	513	Pro/Ser/Thr-rich.			S -> L (in Ref. 2; BAB13843).	multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGTGGGACTTGATGACATGAC	0.418000													8	21					4.68919e-08	5.4106e-08	1	1	0
FLG2	388698	broad.mit.edu	37	1	152323623	152323623	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:152323623G>A	ENST00000388718.5	-	3	6711	c.6639C>T	c.(6637-6639)tcC>tcT	p.S2213S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2213							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)			CATGACCTGAGGATCCTGACT	0.527000													183	291					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411685	23411685	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:23411685C>T	ENST00000379361.4	+	3	2910	c.2050C>T	c.(2050-2052)Ccg>Tcg	p.P684S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	684					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CGTCTTCAATCCGTCCTTTGT	0.493000													12	69					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30787190	30787190	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:30787190T>G	ENST00000256079.4	-	23	3064	c.2726A>C	c.(2725-2727)aAt>aCt	p.N909T	IPO8_ENST00000544829.1_Missense_Mutation_p.N704T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	909					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGCAGTTACATTTGTCTCCTC	0.373000													44	117					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65735696	65735696	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:65735696C>G	ENST00000253247.4	+	16	2022	c.1907C>G	c.(1906-1908)cCt>cGt	p.P636R	NOL11_ENST00000535137.1_Missense_Mutation_p.P454R	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	636						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGACTCTTCCTGGAATACAC	0.363000													15	75					0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714750	92714750	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:92714750G>A	ENST00000257068.2	+	2	367	c.361G>A	c.(361-363)Ggc>Agc	p.G121S		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	121					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.G121C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CTTTGTGATGGGCCTGAGCGT	0.597000													26	52					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160147389	160147389	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:160147389G>T	ENST00000368081.4	+	18	3142	c.2671G>T	c.(2671-2673)Ggc>Tgc	p.G891C	ATP1A4_ENST00000470705.1_Missense_Mutation_p.G27C|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	891					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGATCTGCTGGGCATCCGCCT	0.502000													23	118					2.12542e-12	2.69157e-12	1	1	0
ZDHHC15	158866	broad.mit.edu	37	X	74698765	74698765	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:74698765C>G	ENST00000541184.1	-	2	669	c.192G>C	c.(190-192)tgG>tgC	p.W64C	ZDHHC15_ENST00000373361.3_Missense_Mutation_p.W73C|ZDHHC15_ENST00000373367.3_Missense_Mutation_p.W73C	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	73						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AGATAGACTTCCAGTAGGTCC	0.333000													14	45					0	0	1	0	0
NIPSNAP3A	25934	broad.mit.edu	37	9	107521575	107521575	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:107521575C>G	ENST00000374767.4	+	6	805	c.700C>G	c.(700-702)Cag>Gag	p.Q234E		NM_015469.1	NP_056284.1			nipsnap homolog 3A (C. elegans)											autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						AGTATCTCAGCAGAATATGCT	0.333000													42	35					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37707028	37707028	+	Splice_Site	SNP	G	G	T	rs11703243		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:37707028G>T	ENST00000248901.6	+	10	995		c.e10-1			NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4						regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GCCTTGCGCAGGGGGCCGCGT	0.622000													35	90					2.26627e-22	3.34179e-22	1	1	0
PPRC1	23082	broad.mit.edu	37	10	103899922	103899922	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:103899922G>T	ENST00000278070.2	+	5	1696	c.1657G>T	c.(1657-1659)Ggc>Tgc	p.G553C	PPRC1_ENST00000413464.2_Missense_Mutation_p.G553C	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	553					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)		TGCTAAAGAAGGCCCTCTAGA	0.557000													44	62					7.66079e-34	1.22067e-33	1	1	0
WNT2	7472	broad.mit.edu	37	7	116955390	116955390	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:116955390G>T	ENST00000265441.3	-	3	622	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	108					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AACAAAGGCAGATTCCCGACT	0.403000													22	22					1.85244e-09	2.2077e-09	1	1	0
TOPBP1	11073	broad.mit.edu	37	3	133368658	133368658	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:133368658C>T	ENST00000260810.5	-	9	1350	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	407	BRCT 3.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGCTTCAATTCATCATCATAA	0.328000								Other conserved DNA damage response genes					8	47					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179501452	179501452	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:179501452G>T	ENST00000589042.1	-	225	41226	c.41002C>A	c.(41002-41004)Cct>Act	p.P13668T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P12027T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4728T|TTN_ENST00000460472.2_Missense_Mutation_p.P4603T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P11100T|TTN_ENST00000342175.6_Missense_Mutation_p.P4795T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12027	Ig-like 93.						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)			TCATCAGGAGGTTTCTCTCCA	0.428000													16	23					8.60227e-14	1.11868e-13	1	1	0
WDR45	11152	broad.mit.edu	37	X	48933404	48933404	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:48933404C>A	ENST00000356463.3	-	9	966	c.528G>T	c.(526-528)gcG>gcT	p.A176A	WDR45_ENST00000485908.1_Silent_p.A140A|WDR45_ENST00000473974.1_Silent_p.A175A|WDR45_ENST00000376368.2_Silent_p.A176A|WDR45_ENST00000376372.3_Silent_p.A175A|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000553851.1_Silent_p.A73A|WDR45_ENST00000376358.3_Silent_p.A73A|WDR45_ENST00000396681.4_Silent_p.A175A|WDR45_ENST00000322995.8_Silent_p.A186A	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	175					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GCTTTGTGCTCGCCAGGTCCT	0.582000													5	14					0.000602214	0.000635062	1	1	0
OR6C74	254783	broad.mit.edu	37	12	55641137	55641137	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:55641137G>A	ENST00000343870.4	+	1	156	c.66G>A	c.(64-66)caG>caA	p.Q22Q		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						CACAATTACAGGTGATTATTT	0.343000													48	88					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20116845	20116845	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:20116845G>C	ENST00000397165.2	-	4	1626	c.1466C>G	c.(1465-1467)gCt>gGt	p.A489G	ZNF682_ENST00000595736.1_Missense_Mutation_p.A413G|ZNF682_ENST00000597972.1_Missense_Mutation_p.A495G|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Missense_Mutation_p.A457G|ZNF682_ENST00000397162.1_Missense_Mutation_p.A457G	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GTGATTAAAAGCTTCCCCACA	0.353000													18	51					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130760960	130760960	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:130760960G>A	ENST00000276708.4	-	14	2195	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	438						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AGGGGTATCTGAAGTTTGGCT	0.532000													17	41					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9006798	9006798	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:9006798C>T	ENST00000299698.7	+	21	2845	c.2665C>T	c.(2665-2667)Ccc>Tcc	p.P889S	A2ML1_ENST00000539547.1_Missense_Mutation_p.P398S	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	733						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGGGTTTGTTCCCCAAAAGGG	0.478000													38	102					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323124	31323124	+	Silent	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:31323124C>G	ENST00000265071.2	+	12	2347	c.2082C>G	c.(2080-2082)ccC>ccG	p.P694P		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	694					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.P694P(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACATTGTGCCCGAAGCCCTTT	0.512000													15	38					0	0	1	0	0
POU4F3	5459	broad.mit.edu	37	5	145719487	145719487	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:145719487C>A	ENST00000230732.4	+	2	586	c.497C>A	c.(496-498)aCc>aAc	p.T166N	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	166					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCCGCACACCGTGGCCCCT	0.677000													24	38					4.4004e-07	4.96543e-07	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49420432	49420432	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:49420432C>T	ENST00000301067.7	-	48	15316	c.15317G>A	c.(15316-15318)cGc>cAc	p.R5106H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCAACGCATGCGATTGCAGCT	0.552000													3	66					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161049711	161049711	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:161049711G>T	ENST00000368012.3	-	2	410	c.108C>A	c.(106-108)acC>acA	p.T36T		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	36	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCACGTCTGAGGTCTCCAGCT	0.647000													26	84					5.60225e-13	7.16758e-13	1	1	0
SGK2	10110	broad.mit.edu	37	20	42203600	42203600	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:42203600T>C	ENST00000373100.1	+	11	1109	c.649T>C	c.(649-651)Tgg>Cgg	p.W217R	SGK2_ENST00000373077.1_Missense_Mutation_p.W216R|SGK2_ENST00000341458.4_Missense_Mutation_p.W277R|SGK2_ENST00000426287.1_Missense_Mutation_p.W243R|SGK2_ENST00000423407.3_Missense_Mutation_p.W217R|SGK2_ENST00000373092.3_Missense_Mutation_p.W217R			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	277	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGCAGTGGACTGGTGGTGCTT	0.512000													12	39					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284352	152284352	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:152284352G>T	ENST00000368799.1	-	3	3045	c.3010C>A	c.(3010-3012)Caa>Aaa	p.Q1004K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1004	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)			GTTCCTGATTGTCTGGAGCTG	0.577000									Ichthyosis				161	329					1.51968e-76	2.55235e-76	1	1	0
TRAJ17	28738	broad.mit.edu	37	14	22995839	22995839	+	RNA	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:22995839C>A	ENST00000390520.1	+	0	28																											AACAAGCTAACTTTTGGAGGA	0.448000													3	9					1	1	1	1	0
LRRC32	2615	broad.mit.edu	37	11	76372202	76372202	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:76372202C>T	ENST00000407242.2	-	3	677	c.435G>A	c.(433-435)ctG>ctA	p.L145L	LRRC32_ENST00000260061.5_Silent_p.L145L|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.L145L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	145						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GTGCCTCCCCCAGCAGCCGCT	0.682000													23	41					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15711302	15711302	+	Silent	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:15711302G>C	ENST00000396368.3	-	14	3017	c.2811C>G	c.(2809-2811)ctC>ctG	p.L937L	KIAA0430_ENST00000602337.1_Silent_p.L934L|KIAA0430_ENST00000551742.1_Silent_p.L937L|KIAA0430_ENST00000548025.1_Silent_p.L934L|KIAA0430_ENST00000540441.2_Silent_p.L772L|KIAA0430_ENST00000344181.3_Silent_p.L579L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	936						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGCTGGGTAGGAGACACACCA	0.493000													21	64					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35667323	35667323	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:35667323G>T	ENST00000440995.2	+	9	1317	c.1317G>T	c.(1315-1317)ttG>ttT	p.L439F	SPEF2_ENST00000509059.1_Missense_Mutation_p.L439F|SPEF2_ENST00000356031.3_Missense_Mutation_p.L439F|SPEF2_ENST00000282469.6_Missense_Mutation_p.L439F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	439					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGTTGATTTGTCCACTAAAG	0.333000													13	36					4.14922e-12	5.20147e-12	1	1	0
ASPHD1	253982	broad.mit.edu	37	16	29912545	29912545	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:29912545G>T	ENST00000308748.5	+	1	505	c.253G>T	c.(253-255)Ggg>Tgg	p.G85W	ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	85					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CTTGCTCTTCGGGGCCCTCAC	0.687000													37	92					3.61848e-18	5.06122e-18	1	1	0
GALNT5	11227	broad.mit.edu	37	2	158115335	158115335	+	Silent	SNP	G	G	A	rs149642165	byFrequency	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:158115335G>A	ENST00000259056.4	+	1	1226	c.741G>A	c.(739-741)ccG>ccA	p.P247P		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	247					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CAGCAGTGCCGAAGTCTGGGG	0.473000													10	44					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154860025	154860025	+	Splice_Site	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:154860025G>A	ENST00000460393.1	+	12	1214		c.e12-1		MME_ENST00000493237.1_Splice_Site|MME_ENST00000462745.1_Splice_Site|MME_ENST00000492661.1_Splice_Site|MME_ENST00000360490.2_Splice_Site	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase						cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTTTTATACAGAGATCTTCAA	0.433000													37	132					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6380191	6380191	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:6380191T>A	ENST00000335585.5	-	3	300	c.277A>T	c.(277-279)Aac>Tac	p.N93Y	PPP2R2C_ENST00000515571.1_Missense_Mutation_p.N76Y|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.N86Y|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.N93Y|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.N86Y	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	93					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TTGATCTTGTTGATCTTCTCC	0.602000													31	44					0	0	1	0	0
HOXB5	3215	broad.mit.edu	37	17	46669808	46669808	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:46669808C>T	ENST00000239151.5	-	2	851	c.573G>A	c.(571-573)ggG>ggA	p.G191G	HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000467155.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	191						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						TCCCGTCCGGCCCGGTCATAT	0.637000													5	32					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845725	24845725	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:24845725G>T	ENST00000413692.2	+	10	2615	c.2471G>T	c.(2470-2472)gGc>gTc	p.G824V	NFATC4_ENST00000556759.1_Missense_Mutation_p.G296V|NFATC4_ENST00000556279.1_Missense_Mutation_p.G793V|NFATC4_ENST00000555802.1_Missense_Mutation_p.G49V|NFATC4_ENST00000554050.1_Missense_Mutation_p.G761V|NFATC4_ENST00000555453.1_Missense_Mutation_p.G749V|NFATC4_ENST00000554661.1_Missense_Mutation_p.G691V|NFATC4_ENST00000557451.1_Missense_Mutation_p.G691V|NFATC4_ENST00000557767.1_Missense_Mutation_p.G49V|NFATC4_ENST00000555393.1_Missense_Mutation_p.G49V|NFATC4_ENST00000554344.1_Missense_Mutation_p.G691V|NFATC4_ENST00000554473.1_Missense_Mutation_p.G296V|NFATC4_ENST00000553708.1_Missense_Mutation_p.G761V|NFATC4_ENST00000553879.1_Missense_Mutation_p.G691V|NFATC4_ENST00000555167.1_Missense_Mutation_p.G296V|NFATC4_ENST00000424781.2_Missense_Mutation_p.G774V|NFATC4_ENST00000555590.1_Missense_Mutation_p.G774V|NFATC4_ENST00000539237.2_Missense_Mutation_p.G793V|NFATC4_ENST00000422617.3_Missense_Mutation_p.G749V|NFATC4_ENST00000250373.4_Missense_Mutation_p.G761V|NFATC4_ENST00000554966.1_Missense_Mutation_p.G774V|NFATC4_ENST00000553469.1_Missense_Mutation_p.G793V|NFATC4_ENST00000554591.1_Missense_Mutation_p.G824V|NFATC4_ENST00000556169.1_Missense_Mutation_p.G749V	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	761	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TACAGACCGGGCCTGCGGATG	0.612000													12	45					0.105934	0.10729	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38121097	38121097	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:38121097G>T	ENST00000406386.3	+	7	2789	c.2534G>T	c.(2533-2535)aGa>aTa	p.R845I	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	845					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GATAACCTCAGACCCACTTGT	0.483000													27	77					9.04412e-07	1.00877e-06	1	1	0
APOB	338	broad.mit.edu	37	2	21228906	21228906	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:21228906C>T	ENST00000233242.1	-	26	10961	c.10834G>A	c.(10834-10836)Gat>Aat	p.D3612N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3612					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			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)	TCAGGGAAATCATGGAAGGAA	0.488000													16	51					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61988191	61988191	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:61988191A>T	ENST00000392824.4	-	2	165	c.104T>A	c.(103-105)cTt>cAt	p.L35H	CSHL1_ENST00000309894.5_Missense_Mutation_p.L35H|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	35						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CTCTTTAAAAAGCCTGGATAA	0.597000													27	99					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725523	55725523	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:55725523C>A	ENST00000379667.1	+	1	39	c.39C>A	c.(37-39)ggC>ggA	p.G13G		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TCCTCCTGGGCCTTTCTGATG	0.388000													17	99					1.28384e-07	1.46388e-07	1	1	0
TEX14	56155	broad.mit.edu	37	17	56693599	56693599	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:56693599A>T	ENST00000389934.3	-	7	821	c.704T>A	c.(703-705)gTg>gAg	p.V235E	TEX14_ENST00000240361.8_Missense_Mutation_p.V241E|TEX14_ENST00000349033.5_Missense_Mutation_p.V235E	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	241	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCTTGAATCACTTCCTTTTC	0.488000													6	64					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48327871	48327871	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:48327871C>A	ENST00000319988.1	+	1	97	c.97C>A	c.(97-99)Cat>Aat	p.H33N		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTTCCTCTTTCATGTGCTCAC	0.443000													43	231					2.64894e-19	3.75951e-19	1	1	0
PRSS33	260429	broad.mit.edu	37	16	2835854	2835854	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:2835854C>A	ENST00000576886.1	-	3	481	c.188G>T	c.(187-189)gGg>gTg	p.G63V	PRSS33_ENST00000293851.5_Missense_Mutation_p.G63V|PRSS33_ENST00000570702.1_Missense_Mutation_p.G63V			Q8NF86	PRS33_HUMAN	protease, serine, 33	63	Peptidase S1.				proteolysis		serine-type endopeptidase activity			prostate(1)	1						GAGCGACCCCCCGCACACGTG	0.711000													12	15					1.05317e-09	1.26206e-09	1	1	0
CLASP1	23332	broad.mit.edu	37	2	122363364	122363364	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:122363364C>A	ENST00000263710.4	-	2	497	c.108G>T	c.(106-108)aaG>aaT	p.K36N	CLASP1_ENST00000397587.3_Missense_Mutation_p.K36N|CLASP1_ENST00000541377.1_Missense_Mutation_p.K36N|CLASP1_ENST00000409078.3_Missense_Mutation_p.K36N|CLASP1_ENST00000455322.2_Missense_Mutation_p.K36N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	36					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGTCAGCAGACTTCTGTTTGT	0.483000													54	41					7.91745e-34	1.25927e-33	1	1	0
GTF2E1	2960	broad.mit.edu	37	3	120469792	120469792	+	Silent	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:120469792C>G	ENST00000283875.5	+	2	486	c.393C>G	c.(391-393)gtC>gtG	p.V131V		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	131					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AATGTCCTGTCTGTAGTAGTA	0.383000													5	141					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50135448	50135448	+	RNA	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:50135448C>A	ENST00000376025.2	-	0	1655							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CATAGACAGCCTGGAAGGACA	0.463000													24	43					4.59853e-10	5.51823e-10	1	1	0
ALK	238	broad.mit.edu	37	2	29543724	29543724	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:29543724C>T	ENST00000389048.3	-	7	2345	c.1439G>A	c.(1438-1440)tGc>tAc	p.C480Y	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	480	MAM 2.				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)	TTCAAAGTTGCAGTAAAAACC	0.512000			"""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				100	63					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60164096	60164096	+	Silent	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:60164096T>A	ENST00000300187.6	+	1	322	c.45T>A	c.(43-45)acT>acA	p.T15T	MS4A14_ENST00000395005.2_Silent_p.T15T|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531783.1_Silent_p.T15T|MS4A14_ENST00000531787.1_Intron	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	15						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACGTCATCACTATAAAACCAA	0.463000													21	23					0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25901597	25901597	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:25901597C>G	ENST00000463407.1	+	12	1323	c.1180C>G	c.(1180-1182)Caa>Gaa	p.Q394E	NUPL1_ENST00000381736.3_Missense_Mutation_p.Q394E|NUPL1_ENST00000381718.3_Missense_Mutation_p.Q382E|NUPL1_ENST00000466694.1_3'UTR			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	394	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GAAAATTTATCAAACATTTGT	0.289000													15	49					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108499423	108499423	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:108499423C>A	ENST00000368986.4	+	5	1328	c.620C>A	c.(619-621)tCc>tAc	p.S207Y	NR2E1_ENST00000368983.3_Missense_Mutation_p.S244Y	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	207	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CCAGCCTTCTCCACGCTGTCT	0.502000													19	59					1.66031e-10	2.00899e-10	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178916863	178916863	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:178916863G>C	ENST00000263967.3	+	2	407	c.250G>C	c.(250-252)Gat>Cat	p.D84H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	84	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGAATTTTTTGATGAAACAAG	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			23	127					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34097944	34097944	+	Silent	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:34097944A>G	ENST00000341394.4	+	5	717	c.528A>G	c.(526-528)ccA>ccG	p.P176P	CAPRIN1_ENST00000532820.1_Silent_p.P176P|CAPRIN1_ENST00000389645.3_Silent_p.P176P|CAPRIN1_ENST00000530820.1_Silent_p.P176P|CAPRIN1_ENST00000529307.1_Silent_p.P95P	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	176					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				ATGGAGTGCCAATATTGTCCG	0.398000													63	71					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400490	40400490	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:40400490C>A	ENST00000338305.6	-	2	905	c.363G>T	c.(361-363)cgG>cgT	p.R121R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	121						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGACCAGGCCCCGGAGGGTGT	0.587000													9	39					2.74318e-10	3.31468e-10	1	1	0
IKBKE	9641	broad.mit.edu	37	1	206647748	206647748	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:206647748G>A	ENST00000367120.3	+	4	535	c.162G>A	c.(160-162)agG>agA	p.R54R	IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_5'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	54	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.R54S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TGCAAGTGAGGGAGTTTGAGG	0.572000													16	30					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33867986	33867986	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:33867986G>T	ENST00000307296.3	+	6	1008	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A211S			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	211	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						AATGAAAGATGCCATCATAGC	0.333000													14	21					0.000422831	0.000448614	1	1	0
CA1	759	broad.mit.edu	37	8	86242062	86242062	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:86242062G>T	ENST00000523953.1	-	8	1571	c.525C>A	c.(523-525)gcC>gcA	p.A175A	CA1_ENST00000542576.1_Silent_p.A175A|CA1_ENST00000522389.1_Silent_p.A41A|CA1_ENST00000256119.5_Silent_p.A175A|CA1_ENST00000431316.1_Silent_p.A175A|CA1_ENST00000523022.1_Silent_p.A175A|CA1_ENST00000432364.2_Silent_p.A175A			P00915	CAH1_HUMAN	carbonic anhydrase I	175					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TTGTGAATGGGGCTCGTTTGC	0.378000													8	9					5.16669e-11	6.35787e-11	1	1	0
LAX1	54900	broad.mit.edu	37	1	203743355	203743355	+	Missense_Mutation	SNP	G	G	C	rs149181221	byFrequency	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:203743355G>C	ENST00000442561.2	+	5	1133	c.743G>C	c.(742-744)gGa>gCa	p.G248A	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.G232A	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	248					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TATTCTCCAGGAGCTGAGGAC	0.473000													5	38					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53678942	53678942	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:53678942G>A	ENST00000371486.3	+	5	2167	c.1652G>A	c.(1651-1653)gGc>gAc	p.G551D	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	551					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	ACAGGCCAGGGCTTTGACCGA	0.522000													23	44					0	0	1	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31726001	31726001	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:31726001G>T	ENST00000493662.2	+	13	1181	c.1125G>T	c.(1123-1125)caG>caT	p.Q375H	MSH5_ENST00000431848.2_Missense_Mutation_p.Q57H|MSH5_ENST00000395853.1_Missense_Mutation_p.Q32H|MSH5_ENST00000375703.3_Missense_Mutation_p.Q358H|MSH5_ENST00000534153.4_Missense_Mutation_p.Q375H|MSH5_ENST00000375740.3_Missense_Mutation_p.Q375H|MSH5_ENST00000375750.3_Missense_Mutation_p.Q358H|MSH5_ENST00000375755.3_Missense_Mutation_p.Q358H|MSH5_ENST00000375742.3_Missense_Mutation_p.Q375H																							AGTCCATCCAGCTCTTTCGGG	0.557000													18	56					1.67942e-08	1.95857e-08	1	1	0
OR51V1	283111	broad.mit.edu	37	11	5221569	5221569	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:5221569G>T	ENST00000321255.1	-	1	361	c.362C>A	c.(361-363)tCc>tAc	p.S121Y		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GAGGACAGAGGACTCCATGAA	0.473000													22	28					5.35356e-11	6.56925e-11	1	1	0
LYST	1130	broad.mit.edu	37	1	235967931	235967931	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:235967931C>A	ENST00000389794.3	-	7	3602	c.3428G>T	c.(3427-3429)aGg>aTg	p.R1143M	LYST_ENST00000389793.2_Missense_Mutation_p.R1143M|LYST_ENST00000536965.1_Missense_Mutation_p.R1143M			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1143					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)			AAGATGGTCCCTCATTTCAAA	0.328000													27	52					1.12875e-08	1.32705e-08	1	1	0
KRT34	3885	broad.mit.edu	37	17	39535825	39535825	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:39535825C>A	ENST00000394001.1	-	4	903	c.873G>T	c.(871-873)acG>acT	p.T291T		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	291	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TGCCCACCTGCGTGGCGAACC	0.597000													19	60					1.2644e-06	1.40849e-06	1	1	0
PTCHD1	139411	broad.mit.edu	37	X	23397800	23397800	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:23397800C>T	ENST00000379361.4	+	2	1304	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	148					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATAAGACTTGCATCGTGGATG	0.458000													23	100					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168100192	168100192	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:168100192G>T	ENST00000519560.1	-	33	4250	c.3831C>A	c.(3829-3831)ctC>ctA	p.L1277L	SLIT3_ENST00000404867.3_Silent_p.L1277L|SLIT3_ENST00000332966.8_Silent_p.L1284L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1277	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCAAGGTAGAGGGGGCTGT	0.567000													24	104					0.00395357	0.00409477	1	1	0
NUMA1	4926	broad.mit.edu	37	11	71726349	71726349	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:71726349G>A	ENST00000393695.3	-	15	2531	c.2200C>T	c.(2200-2202)Cgt>Tgt	p.R734C	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.R734C	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	734					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGATACAACGCTGCTGCTCT	0.602000			T	RARA	APL								29	119					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569820	248569820	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:248569820C>A	ENST00000366474.1	+	1	525	c.525C>A	c.(523-525)gcC>gcA	p.A175A		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			GCTATGTGGCCATTTGCAACC	0.542000													32	113					3.76114e-14	4.92799e-14	1	1	0
GPR149	344758	broad.mit.edu	37	3	154147309	154147309	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:154147309C>A	ENST00000389740.2	-	1	195	c.96G>T	c.(94-96)ctG>ctT	p.L32L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	32						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATAGATATTCAGGGTTCCTG	0.393000													69	36					8.20758e-20	1.16676e-19	1	1	0
LHFPL1	340596	broad.mit.edu	37	X	111874739	111874739	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:111874739C>T	ENST00000371968.3	-	4	811	c.572G>A	c.(571-573)gGa>gAa	p.G191E	LHFPL1_ENST00000478229.1_5'UTR|LHFPL1_ENST00000536453.1_Missense_Mutation_p.G158E	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	191						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGGGTTTCTTCCAGCAAAGCA	0.502000													56	80					0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132096630	132096630	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:132096630C>A	ENST00000296873.7	-	9	1433	c.1150G>T	c.(1150-1152)Gtg>Ttg	p.V384L	SEPT8_ENST00000378721.4_Missense_Mutation_p.V382L|SEPT8_ENST00000378706.1_Missense_Mutation_p.V384L|SEPT8_ENST00000448933.1_Missense_Mutation_p.V324L|SEPT8_ENST00000378699.2_Missense_Mutation_p.V324L|SEPT8_ENST00000378719.2_Missense_Mutation_p.V384L|SEPT8_ENST00000378701.1_Missense_Mutation_p.V382L|SEPT8_ENST00000458488.2_Missense_Mutation_p.V384L	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	384					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTTCCTCCACCTTGCGCTTC	0.632000													41	103					6.17242e-35	9.87133e-35	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53579742	53579742	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:53579742C>T	ENST00000342160.3	-	61	9064	c.8607G>A	c.(8605-8607)gaG>gaA	p.E2869E	HUWE1_ENST00000262854.6_Silent_p.E2869E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2869					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CACCCACAGCCTCCTCTAAGG	0.587000													7	31					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102029330	102029330	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:102029330G>T	ENST00000251127.6	-	5	534	c.453C>A	c.(451-453)atC>atA	p.I151I	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Silent_p.I151I|NALCN_ENST00000376196.3_Silent_p.I151I	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	151						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)					GGAATGCTCGGATCATAATCA	0.383000													14	33					3.27435e-08	3.79319e-08	1	1	0
CATSPER2	117155	broad.mit.edu	37	15	43940196	43940196	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:43940196G>C	ENST00000396879.1	-	3	176	c.64C>G	c.(64-66)Ctc>Gtc	p.L22V	CATSPER2_ENST00000355438.2_Missense_Mutation_p.L22V|CATSPER2_ENST00000321596.5_Missense_Mutation_p.L22V|CATSPER2_ENST00000354127.4_Missense_Mutation_p.L22V|CATSPER2_ENST00000381761.1_Missense_Mutation_p.L28V|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000464721.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	22					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTATCGATGAGACGTGAACGA	0.483000													115	110					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100491177	100491177	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:100491177T>C	ENST00000279907.7	-	6	847	c.635A>G	c.(634-636)aAc>aGc	p.N212S	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.N212S	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	212										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTTGATTGGTTGGTTATTAA	0.333000													9	43					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894322	123894322	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:123894322C>T	ENST00000375024.1	+	1	603	c.603C>T	c.(601-603)gaC>gaT	p.D201D		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		TCTTTGTGGACATTGGGCTAG	0.552000													48	99					0	0	1	0	0
SLC35A2	7355	broad.mit.edu	37	X	48767187	48767187	+	Silent	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:48767187A>G	ENST00000376521.1	-	2	499	c.178T>C	c.(178-180)Ttg>Ctg	p.L60L	SLC35A2_ENST00000376512.1_Silent_p.L60L|SLC35A2_ENST00000413561.2_Intron|SLC35A2_ENST00000376529.3_Silent_p.L60L|SLC35A2_ENST00000452555.2_Silent_p.L88L|SLC35A2_ENST00000445167.2_Silent_p.L60L|SLC35A2_ENST00000376515.3_Silent_p.L36L|SLC35A2_ENST00000247138.5_Silent_p.L60L	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	60					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						TCCCCTGGCAACGTGCGGGCG	0.602000													10	22					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23716246	23716246	+	Missense_Mutation	SNP	C	C	G	rs55772851		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:23716246C>G	ENST00000256797.4	-	8	1124	c.956G>C	c.(955-957)cGg>cCg	p.R319P	ERN2_ENST00000457008.2_Missense_Mutation_p.R271P	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	271					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGCTGTGTCCCGGGGGCCTGA	0.672000													22	101					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160149569	160149569	+	Missense_Mutation	SNP	G	G	A	rs137888861		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:160149569G>A	ENST00000357388.3	+	21	3704	c.3253G>A	c.(3253-3255)Gaa>Aaa	p.E1085K	SMC4_ENST00000360111.2_Missense_Mutation_p.E1027K|SMC4_ENST00000469762.1_Missense_Mutation_p.E1060K|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.E1085K|SMC4_ENST00000462787.1_Missense_Mutation_p.E1027K	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1085					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCGGTGTCATGAAATGAAACC	0.388000													9	101					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29609187	29609187	+	Splice_Site	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:29609187G>T	ENST00000373779.3	+	12	1997		c.e12-1		PTPRU_ENST00000460170.2_Splice_Site|PTPRU_ENST00000428026.2_Splice_Site|PTPRU_ENST00000415600.2_Splice_Site|PTPRU_ENST00000356870.3_Splice_Site|PTPRU_ENST00000323874.8_Splice_Site|PTPRU_ENST00000345512.3_Splice_Site	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U						canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TCCCTGTCCAGTGTGTACCAG	0.647000													7	22					0.00198382	0.00206697	1	1	0
TAS2R1	50834	broad.mit.edu	37	5	9629287	9629287	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:9629287T>A	ENST00000382492.2	-	1	1176	c.858A>T	c.(856-858)caA>caT	p.Q286H	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	286					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TTTTTGCATTTTGTTTCAATT	0.388000													20	82					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139601558	139601558	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:139601558G>A	ENST00000303045.6	-	65	5265	c.4819C>T	c.(4819-4821)Cct>Tct	p.P1607S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1587S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1607	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)			CACTGGGAAGGGTCACATTGG	0.602000										HNSCC(7;0.00092)			20	15					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70078342	70078342	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:70078342G>C	ENST00000446444.1	-	2	827	c.819C>G	c.(817-819)aaC>aaG	p.N273K	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	273					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						CAAAATCAACGTTTGGTAAGA	0.403000													25	149					0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15217421	15217421	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:15217421C>A	ENST00000395930.1	-	6	1047	c.861G>T	c.(859-861)gtG>gtT	p.V287V	TEKT3_ENST00000338696.2_Silent_p.V287V	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	287					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CGACCCTCTCCACTCCGCGGA	0.517000													12	33					5.60225e-13	7.16758e-13	1	1	0
GUCY2D	3000	broad.mit.edu	37	17	7907173	7907173	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:7907173T>G	ENST00000254854.4	+	3	875	c.725T>G	c.(724-726)gTg>gGg	p.V242G		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	242					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TCCGCAGCAGTGATCATGGTG	0.692000													10	27					0	0	1	0	0
GATA1	2623	broad.mit.edu	37	X	48649525	48649525	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:48649525C>A	ENST00000376670.3	+	2	120	c.9C>A	c.(7-9)ttC>ttA	p.F3L	GATA1_ENST00000376665.3_Missense_Mutation_p.F3L	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	3					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M1fs(7)|p.E2fs*444(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CCATGGAGTTCCCTGGCCTGG	0.592000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								8	8					3.07112e-06	3.36932e-06	1	1	0
WDR16	146845	broad.mit.edu	37	17	9532088	9532088	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:9532088G>T	ENST00000352665.5	+	9	1194	c.1125G>T	c.(1123-1125)atG>atT	p.M375I	WDR16_ENST00000396219.3_Missense_Mutation_p.M307I|WDR16_ENST00000299764.5_Missense_Mutation_p.M385I	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	375						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TGCCCAACATGACCTGCCACG	0.537000													34	53					4.65686e-17	6.42072e-17	1	1	0
DMD	1756	broad.mit.edu	37	X	32429871	32429871	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:32429871G>C	ENST00000357033.4	-	30	4437	c.4231C>G	c.(4231-4233)Cag>Gag	p.Q1411E	DMD_ENST00000378677.2_Missense_Mutation_p.Q1407E	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1411					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTACTTGCCTGGGCTTCCTGA	0.398000													16	80					0	0	1	0	0
E2F2	1870	broad.mit.edu	37	1	23848504	23848504	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:23848504C>A	ENST00000361729.2	-	3	829	c.403G>T	c.(403-405)Ggg>Tgg	p.G135W		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	135					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GTGAGCAGCCCCAGCGAAGTG	0.627000													21	58					3.73194e-20	5.34891e-20	1	1	0
KLF11	8462	broad.mit.edu	37	2	10192405	10192405	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:10192405G>T	ENST00000535335.1	+	4	1475	c.1259G>T	c.(1258-1260)cGt>cTt	p.R420L	KLF11_ENST00000540845.1_Missense_Mutation_p.R420L|KLF11_ENST00000305883.1_Missense_Mutation_p.R437L	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	437					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AAGTTTGCTCGTTCGGATGAG	0.512000													69	46					5.61366e-43	9.18023e-43	1	1	0
ANO3	63982	broad.mit.edu	37	11	26663460	26663460	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:26663460G>C	ENST00000256737.3	+	22	3011	c.2159G>C	c.(2158-2160)tGg>tCg	p.W720S	ANO3_ENST00000531568.1_Missense_Mutation_p.W574S|ANO3_ENST00000537978.1_Missense_Mutation_p.W704S|ANO3_ENST00000525139.1_Missense_Mutation_p.W704S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	720						chloride channel complex	chloride channel activity	p.W720*(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAGAACTGGTGGTCACGACAT	0.423000													19	137					0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13741556	13741556	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr18:13741556C>G	ENST00000383314.2	+	7	1080	c.840C>G	c.(838-840)atC>atG	p.I280M	RNMT_ENST00000543302.2_Missense_Mutation_p.I280M|RNMT_ENST00000262173.3_Missense_Mutation_p.I280M|RNMT_ENST00000592764.1_Missense_Mutation_p.I280M|RNMT_ENST00000535051.1_Missense_Mutation_p.I38M|RNMT_ENST00000589866.1_Missense_Mutation_p.I280M			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	280					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GTTTTGACATCTGCAGTTGTC	0.388000													14	76					0	0	1	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104248	26104248	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:26104248G>A	ENST00000377803.2	+	1	145	c.73G>A	c.(73-75)Gat>Aat	p.D25N		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	25					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						GGTGCTCCGGGATAACATCCA	0.557000													11	93					0	0	1	0	0
KLRAP1	10748	broad.mit.edu	37	12	10746408	10746408	+	RNA	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:10746408T>A	ENST00000510134.2	-	0	511																				breast(1)|large_intestine(1)|lung(1)	3						TTCAATATCTTAGGTCCAACA	0.393000													22	28					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19343313	19343313	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:19343313G>A	ENST00000263208.5	-	21	2787	c.2531C>T	c.(2530-2532)gCg>gTg	p.A844V	HIRA_ENST00000340170.4_Missense_Mutation_p.A637V|HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Missense_Mutation_p.A800V	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	844	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AAAGCAGTACGCCTTCCCATC	0.507000													20	28					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1127757	1127757	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:1127757G>A	ENST00000361757.3	-	5	524	c.287C>T	c.(286-288)tCc>tTc	p.S96F	SBNO2_ENST00000587024.1_Missense_Mutation_p.S96F|SBNO2_ENST00000438103.2_Missense_Mutation_p.S39F	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	96					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAAAATAGGAGGAGTCCTG	0.627000													21	17					0	0	1	0	0
POPDC2	64091	broad.mit.edu	37	3	119373369	119373369	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:119373369C>A	ENST00000493094.1	-	2	1042	c.583G>T	c.(583-585)Gag>Tag	p.E195*	POPDC2_ENST00000538678.1_Nonsense_Mutation_p.E195*|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Nonsense_Mutation_p.E195*|POPDC2_ENST00000264231.3_Nonsense_Mutation_p.E195*			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	195						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		ACCCCCTCCTCAGAAGGCTGT	0.567000													77	76					1.46924e-35	2.35403e-35	1	1	0
MUC7	4589	broad.mit.edu	37	4	71346549	71346549	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:71346549C>A	ENST00000413702.1	+	4	376	c.88C>A	c.(88-90)Cgt>Agt	p.R30S	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.R30S|MUC7_ENST00000304887.5_Missense_Mutation_p.R30S	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	30						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCATGAACTACGTCACAGAAG	0.398000													28	141					9.78306e-22	1.42567e-21	1	1	0
OR9G4	283189	broad.mit.edu	37	11	56511046	56511046	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:56511046A>G	ENST00000302957.3	-	1	241	c.242T>C	c.(241-243)cTg>cCg	p.L81P		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAAAAAAGACAGATTGCCAAT	0.423000													21	101					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78717033	78717033	+	Splice_Site	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:78717033C>A	ENST00000436010.2	-	12	2846	c.1849_splice	c.e12+1	p.D617_splice	ROBO1_ENST00000495273.1_Splice_Site_p.D620_splice|ROBO1_ENST00000467549.1_Splice_Site_p.D620_splice|ROBO1_ENST00000464233.1_Splice_Site_p.D656_splice			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	656	Fibronectin type-III 1.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAATATTTACCTTGTGTTTTC	0.353000													7	21					1.06961e-07	1.22121e-07	1	1	0
MID2	11043	broad.mit.edu	37	X	107159297	107159297	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:107159297A>C	ENST00000262843.6	+	6	1687	c.1139A>C	c.(1138-1140)gAa>gCa	p.E380A	MID2_ENST00000443968.2_Missense_Mutation_p.E380A|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	380	COS.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GATGCCTTTGAAAACTTTGCT	0.333000													29	139					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41752779	41752779	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:41752779G>T	ENST00000352645.4	+	22	2905	c.2648G>T	c.(2647-2649)cGc>cTc	p.R883L	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.R883L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	899					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGGGCCTTCCGCTTCCCCATG	0.652000													16	76					4.7546e-09	5.62025e-09	1	1	0
SLC35F5	80255	broad.mit.edu	37	2	114503855	114503855	+	Splice_Site	SNP	A	A	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:114503855A>C	ENST00000245680.2	-	5	892	c.480_splice	c.e5+1	p.L160_splice	SLC35F5_ENST00000409342.1_Splice_Site_p.L154_splice	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	160					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AGCACTTACCAAAGAACTATT	0.373000													23	36					0	0	1	0	0
ZNF25	219749	broad.mit.edu	37	10	38246389	38246389	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:38246389T>A	ENST00000302609.7	-	3	313	c.101A>T	c.(100-102)aAg>aTg	p.K34M	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CATCACATCCTTATACAGAGT	0.433000													56	58					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644112	53644112	+	Missense_Mutation	SNP	C	C	G	rs144522685	byFrequency	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:53644112C>G	ENST00000452676.2	-	5	2398	c.1972G>C	c.(1972-1974)Gag>Cag	p.E658Q	ZNF347_ENST00000334197.7_Missense_Mutation_p.E657Q|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.E658Q	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTGCCACACTCATTACATTTG	0.408000													41	129					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77328923	77328923	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:77328923T>G	ENST00000282849.5	-	19	3321	c.2903A>C	c.(2902-2904)gAa>gCa	p.E968A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	968	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CAACACTGCTTCCTCCTTTTG	0.562000													38	39					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137646139	137646139	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:137646139C>A	ENST00000371817.3	+	16	2208	c.1794C>A	c.(1792-1794)ggC>ggA	p.G598G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	598	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTGTGCAAGGCCCGCCTGGTC	0.622000													25	58					3.65163e-15	4.86511e-15	1	1	0
STAC3	246329	broad.mit.edu	37	12	57642487	57642487	+	Splice_Site	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:57642487A>G	ENST00000332782.2	-	4	634		c.e4+1		STAC3_ENST00000554578.1_Splice_Site|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3						intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CAGCCTACTCACGATCTTGCC	0.542000													117	514					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453781	53453781	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:53453781C>T	ENST00000357666.4	-	5	1547	c.1247G>A	c.(1246-1248)aGg>aAg	p.R416K	ZNF816_ENST00000444460.2_Missense_Mutation_p.R416K|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ATGAATCTTCCTATGTCTTTC	0.398000													26	99					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41094612	41094612	+	Silent	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:41094612A>G	ENST00000291842.5	+	14	1468	c.1419A>G	c.(1417-1419)ccA>ccG	p.P473P	SHKBP1_ENST00000600733.1_Silent_p.P448P|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	473						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCCACCCCACTCGCTTCCT	0.612000													54	121					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104027392	104027392	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:104027392C>A	ENST00000265148.3	-	49	8182	c.8093G>T	c.(8092-8094)tGc>tTc	p.C2698F	CENPE_ENST00000380026.3_Missense_Mutation_p.C2577F	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2698	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTGAGTTTTGCACTCAGGCAC	0.453000													13	52					2.31682e-05	2.5039e-05	1	1	0
DACT1	51339	broad.mit.edu	37	14	59112635	59112635	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:59112635A>T	ENST00000395153.3	+	4	1330	c.1183A>T	c.(1183-1185)Agg>Tgg	p.R395W	DACT1_ENST00000556859.1_Missense_Mutation_p.R151W|DACT1_ENST00000335867.4_Missense_Mutation_p.R432W|DACT1_ENST00000541264.2_Missense_Mutation_p.R151W|DACT1_ENST00000395151.3_Missense_Mutation_p.R151W	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	432					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						CGAAAGCAAGAGGGTGCCCCT	0.592000													23	60					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103301761	103301761	+	Silent	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:103301761A>T	ENST00000376052.3	+	23	2893	c.2877A>T	c.(2875-2877)atA>atT	p.I959I	TPP2_ENST00000376065.4_Silent_p.I959I			P29144	TPP2_HUMAN	tripeptidyl peptidase II	959					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTTTAGAATACCTAAAGGGG	0.348000													11	37					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065389	55065389	+	RNA	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:55065389C>A	ENST00000526016.1	-	0	319					NR_038174.2																						TCCGGTGCTCCTGAGAGTTGG	0.473000													8	24					0.00136819	0.00142897	1	1	0
GNL3L	54552	broad.mit.edu	37	X	54578050	54578050	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:54578050C>A	ENST00000336470.4	+	11	1052	c.913C>A	c.(913-915)Cca>Aca	p.P305T	GNL3L_ENST00000360845.2_Missense_Mutation_p.P305T	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	305	G.				ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						CTTGGATGCTCCAGGCATTGT	0.597000													11	75					7.93312e-07	8.87123e-07	1	1	0
TAF1	6872	broad.mit.edu	37	X	70598125	70598125	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:70598125C>G	ENST00000449580.1	+	7	1022	c.971C>G	c.(970-972)tCa>tGa	p.S324*	TAF1_ENST00000373790.4_Nonsense_Mutation_p.S324*|TAF1_ENST00000276072.3_Nonsense_Mutation_p.S345*|TAF1_ENST00000423759.1_Nonsense_Mutation_p.S345*			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	324	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTTTCCCAATCAACTGGAGAT	0.473000													16	72					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799121	45799121	+	Missense_Mutation	SNP	C	C	A	rs138345815		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:45799121C>A	ENST00000553795.1	-	4	1058	c.750G>T	c.(748-750)tgG>tgT	p.W250C	OR13A1_ENST00000536058.1_Missense_Mutation_p.W250C|OR13A1_ENST00000374401.2_Missense_Mutation_p.W250C	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCTGCCTCCCCCAGGCAGTCT	0.552000													47	49					7.89702e-26	1.19485e-25	1	1	0
SLC26A3	1811	broad.mit.edu	37	7	107430094	107430094	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:107430094A>T	ENST00000340010.5	-	6	794	c.610T>A	c.(610-612)Tac>Aac	p.Y204N	SLC26A3_ENST00000422236.2_Missense_Mutation_p.Y169N	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	204					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCAGACAGGTATATCACTACA	0.433000													9	39					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54783848	54783848	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:54783848G>T	ENST00000218436.6	-	8	2688	c.2659C>A	c.(2659-2661)Cct>Act	p.P887T		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	887	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GGTCTAGGAGGTAGTGGGGTT	0.507000													19	88					0.000132079	0.000141513	1	1	0
NMBR	4829	broad.mit.edu	37	6	142396909	142396909	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:142396909C>A	ENST00000258042.1	-	3	1189	c.1049G>T	c.(1048-1050)gGa>gTa	p.G350V	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	350					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GTAGCTGGTTCCTCTCTCTTG	0.463000													18	112					4.96729e-08	5.71633e-08	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76501441	76501441	+	Silent	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:76501441G>C	ENST00000389840.5	-	31	5002	c.4878C>G	c.(4876-4878)ggC>ggG	p.G1626G	DNAH17_ENST00000585328.1_Silent_p.G1627G					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)			ACATTCCCAGGCCCACCTTGA	0.562000													7	59					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119203061	119203061	+	Missense_Mutation	SNP	G	G	C	rs141743709	by1000genomes	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:119203061G>C	ENST00000313400.4	-	22	3709	c.3609C>G	c.(3607-3609)gaC>gaG	p.D1203E	ASTN2_ENST00000373996.3_Missense_Mutation_p.D1199E|ASTN2_ENST00000361477.3_Missense_Mutation_p.D255E|ASTN2_ENST00000288520.5_Missense_Mutation_p.D304E|ASTN2_ENST00000361209.2_Missense_Mutation_p.D1152E|ASTN2_ENST00000341734.4_Missense_Mutation_p.D255E			O75129	ASTN2_HUMAN	astrotactin 2	1203						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGTAGATCTTGTCAGCTATTT	0.473000													23	135					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97605561	97605561	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:97605561G>C	ENST00000182096.4	+	5	1459	c.1395G>C	c.(1393-1395)ttG>ttC	p.L465F		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TCCCCAATTTGGAAGAACTGA	0.408000													38	180					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507261	71507261	+	Missense_Mutation	SNP	A	A	G	rs111708284	by1000genomes	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:71507261A>G	ENST00000528685.1	+	3	358	c.358A>G	c.(358-360)Aca>Gca	p.T120A	FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron			Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	0										lung(1)	1						AGCTGTCCCTACAGGACTCCA	0.627000													4	135					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83126524	83126524	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:83126524C>A	ENST00000329312.4	+	3	160	c.123C>A	c.(121-123)ctC>ctA	p.L41L		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	41					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CCAAACCACTCCAGAGAGGTA	0.303000													12	58					0.000151284	0.000161891	1	1	0
LCT	3938	broad.mit.edu	37	2	136570436	136570436	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:136570436C>A	ENST00000264162.2	-	7	1808	c.1798G>T	c.(1798-1800)Gtg>Ttg	p.V600L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	600	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGTTCAGCACAATGCCCACG	0.572000													27	29					2.79863e-10	3.37699e-10	1	1	0
GAPVD1	26130	broad.mit.edu	37	9	128094292	128094292	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:128094292G>T	ENST00000470056.1	+	12	2421	c.2261G>T	c.(2260-2262)aGg>aTg	p.R754M	GAPVD1_ENST00000297933.6_Missense_Mutation_p.R754M|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R754M|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R733M|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R754M|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R733M|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R754M|GAPVD1_ENST00000495955.1_Missense_Mutation_p.R754M			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	754					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACGGATGTCAGGGAGGTCAGT	0.527000													25	35					5.61819e-17	7.7339e-17	1	1	0
NOS1	4842	broad.mit.edu	37	12	117685234	117685234	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:117685234C>A	ENST00000317775.6	-	18	3427	c.2742G>T	c.(2740-2742)gaG>gaT	p.E914D	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.E948D	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	914	Flavodoxin-like.				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)	TCAGGATCCTCTCCCCTCCCA	0.552000													22	59					1.22574e-08	1.43913e-08	1	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627122	43627122	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:43627122G>T	ENST00000332857.6	-	4	1593	c.1565C>A	c.(1564-1566)cCt>cAt	p.P522H		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CTGCGATGCAGGGCAAGCTAC	0.507000													240	160					4.45335e-96	7.56722e-96	1	1	0
RYR3	6263	broad.mit.edu	37	15	34145778	34145778	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:34145778T>A	ENST00000389232.4	+	96	13764	c.13694T>A	c.(13693-13695)cTc>cAc	p.L4565H	RYR3_ENST00000415757.3_Missense_Mutation_p.L4560H|RYR3_ENST00000559917.1_3'UTR	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4565					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)		TATGGAGATCTCTACGGAGCA	0.493000													16	20					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1162077	1162077	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:1162077C>G	ENST00000356191.2	+	19	1659	c.1659C>G	c.(1657-1659)ttC>ttG	p.F553L						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TGCAGCTGTTCATGCAGCTGG	0.632000													7	32					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197585750	197585750	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:197585750C>T	ENST00000438796.2	+	15	1734	c.1690C>T	c.(1690-1692)Cat>Tat	p.H564Y	LRCH3_ENST00000425562.2_Missense_Mutation_p.H564Y|LRCH3_ENST00000536618.1_Missense_Mutation_p.H159Y|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000334859.4_Missense_Mutation_p.H564Y|LRCH3_ENST00000441090.2_Missense_Mutation_p.H410Y			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	564						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TACCCTGCCTCATTCTTCTGC	0.423000													22	163					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36018846	36018846	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:36018846T>C	ENST00000452271.2	-	1	366	c.338A>G	c.(337-339)gAg>gGg	p.E113G	SBSN_ENST00000518157.1_Missense_Mutation_p.E113G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	113	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCAAGCTTCTCTGCTTCCTT	0.572000													47	299					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													3	49					0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183730974	183730974	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:183730974C>A	ENST00000295113.4	-	1	916	c.307G>T	c.(307-309)Gag>Tag	p.E103*		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	103	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TTGATGGGCTCGTGCTGGAAG	0.622000													9	40					0.00621372	0.00637492	1	1	0
TLL2	7093	broad.mit.edu	37	10	98156988	98156988	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:98156988T>A	ENST00000357947.3	-	11	1564	c.1339A>T	c.(1339-1341)Agc>Tgc	p.S447C	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	447	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTGCTGCTGCTGCGGAACTCC	0.572000													23	31					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54492144	54492144	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:54492144G>A	ENST00000375135.3	-	7	2215	c.1482C>T	c.(1480-1482)atC>atT	p.I494I		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	494	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTCATGGATGATGACTTTAA	0.562000													18	91					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32860366	32860366	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:32860366T>A	ENST00000383763.4	+	1	857	c.794T>A	c.(793-795)tTc>tAc	p.F265Y		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	265					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCCCGCCCTTCTCCATCCTC	0.687000													20	17					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237895389	237895389	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:237895389G>A	ENST00000366574.2	+	78	11296	c.10979G>A	c.(10978-10980)aGa>aAa	p.R3660K	RYR2_ENST00000360064.6_Missense_Mutation_p.R3658K|RYR2_ENST00000542537.1_Missense_Mutation_p.R3644K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3660					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R3658I(2)		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)			GGCACTAAGAGAGTTGATCCT	0.398000													11	71					0	0	1	0	0
U66061.31	0	broad.mit.edu	37	7	142423762	142423762	+	RNA	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:142423762C>A	ENST00000506718.1	+	0	770																											ACTCCTCCTTCAGGAGACCCC	0.542000													3	5					0.004672	0.00480454	1	1	0
DMD	1756	broad.mit.edu	37	X	32482768	32482768	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:32482768G>A	ENST00000357033.4	-	24	3417	c.3211C>T	c.(3211-3213)Ctg>Ttg	p.L1071L	DMD_ENST00000378677.2_Silent_p.L1067L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1071					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTCCTTCAGAAAAACATCA	0.378000													4	178					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737770	248737770	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:248737770T>C	ENST00000328782.2	-	1	310	c.289A>G	c.(289-291)Att>Gtt	p.I97V		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			GACGGGGAAATGGTATCATCT	0.552000													20	46					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													3	41					0	0	1	0	0
FXYD6	53826	broad.mit.edu	37	11	117712574	117712574	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:117712574T>C	ENST00000526014.1	-	4	699	c.104A>G	c.(103-105)cAg>cGg	p.Q35R	FXYD6_ENST00000540359.1_Missense_Mutation_p.Q35R|FXYD6_ENST00000539526.1_Missense_Mutation_p.Q35R|FXYD6_ENST00000530956.1_Missense_Mutation_p.Q35R|FXYD6_ENST00000529335.2_Missense_Mutation_p.Q34R|FXYD6_ENST00000527717.1_Missense_Mutation_p.Q35R|FXYD6_ENST00000527429.1_Missense_Mutation_p.Q35R|FXYD6_ENST00000524656.1_Missense_Mutation_p.Q35R|FXYD6_ENST00000260282.4_Missense_Mutation_p.Q35R|FXYD6_ENST00000584230.1_Missense_Mutation_p.Q35R|FXYD6-FXYD2_ENST00000532984.1_Missense_Mutation_p.Q35R|FXYD6_ENST00000584394.1_Missense_Mutation_p.Q35R|FXYD6_ENST00000583233.1_5'UTR	NM_022003.3	NP_071286.1			FXYD domain containing ion transport regulator 6											central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		CCTCAGGGTCTGGTAATCTGC	0.557000													20	44					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735990	158735990	+	Silent	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:158735990G>C	ENST00000335094.2	-	1	502	c.483C>G	c.(481-483)tcC>tcG	p.S161S		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GTGAAATCAAGGAAATTTCAA	0.522000													17	57					0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92926871	92926871	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:92926871A>T	ENST00000373079.3	-	1	1696	c.1433T>A	c.(1432-1434)cTg>cAg	p.L478Q	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	478					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GATTGATTTCAGGATGACATT	0.368000													10	48					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47592590	47592590	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:47592590G>T	ENST00000371917.4	+	14	1812	c.1812G>T	c.(1810-1812)ggG>ggT	p.G604G		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	604					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)			TAGGGGATGGGAAAGGCCTTG	0.527000													6	41					2.0095e-06	2.21861e-06	1	1	0
ANKRD37	353322	broad.mit.edu	37	4	186320739	186320739	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:186320739C>A	ENST00000335174.4	+	4	728	c.288C>A	c.(286-288)aaC>aaA	p.N96K		NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	96						cytoplasm|nucleus				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		GTAATAAGAACGGGCAAACAG	0.348000													10	31					6.40141e-05	6.89261e-05	1	1	0
OR10V1	390201	broad.mit.edu	37	11	59481041	59481041	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:59481041A>G	ENST00000307552.2	-	1	296	c.278T>C	c.(277-279)gTt>gCt	p.V93A	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						CGTGATGGAAACAGGAGTTTT	0.463000													19	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064609	9064609	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:9064609G>T	ENST00000397910.4	-	3	23040	c.22837C>A	c.(22837-22839)Ctg>Atg	p.L7613M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7615	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATTCTGTCAGGACAGAGGAG	0.478000													16	16					0.00400662	0.00414478	1	1	0
CBX4	8535	broad.mit.edu	37	17	77808643	77808643	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:77808643C>T	ENST00000269397.4	-	5	975	c.798G>A	c.(796-798)atG>atA	p.M266I		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	266	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGTATTTGCTCATCACGATCA	0.592000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	270					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132002719	132002719	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:132002719G>T	ENST00000286355.5	-	2	3122	c.1030C>A	c.(1030-1032)Cgg>Agg	p.R344R	ADCY8_ENST00000377928.3_Silent_p.R344R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	344					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.R344W(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGCTGGGCCCGGTCTGACAGG	0.537000										HNSCC(32;0.087)			65	89					1.931e-44	3.18176e-44	1	1	0
DZIP3	9666	broad.mit.edu	37	3	108407534	108407534	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:108407534G>A	ENST00000361582.3	+	30	3595	c.3365G>A	c.(3364-3366)aGg>aAg	p.R1122K	DZIP3_ENST00000463306.1_Missense_Mutation_p.R1122K	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1122					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CCAGCCTGGAGGCCACTCACT	0.453000													32	33					0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224922277	224922277	+	Silent	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:224922277T>C	ENST00000272133.3	+	5	1206	c.324T>C	c.(322-324)tgT>tgC	p.C108C		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	108					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		ATTTCCACTGTCCAGCAGATA	0.542000													13	64					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34235509	34235509	+	RNA	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:34235509G>C	ENST00000587132.1	-	0	2518																											GCAGGTGCTGGGCTCTGGTAC	0.498000													11	64					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735809	55735809	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:55735809G>T	ENST00000312345.2	-	1	181	c.131C>A	c.(130-132)cCc>cAc	p.P44H		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CTGGAGAGCGGGGTGAATTTT	0.343000													25	83					7.33532e-06	7.98714e-06	1	1	0
CYTH1	9267	broad.mit.edu	37	17	76696496	76696496	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:76696496C>A	ENST00000589297.1	-	7	982	c.290G>T	c.(289-291)gGa>gTa	p.G97V	CYTH1_ENST00000446868.3_Missense_Mutation_p.G156V|CYTH1_ENST00000591455.1_Missense_Mutation_p.G156V|CYTH1_ENST00000361101.4_Missense_Mutation_p.G156V|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000585509.1_Missense_Mutation_p.G97V			Q15438	CYH1_HUMAN	cytohesin 1	156	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CTGGGCCTCTCCGGGTAGCCG	0.498000													7	19					5.18039e-06	5.66199e-06	1	1	0
CRB1	23418	broad.mit.edu	37	1	197396586	197396586	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:197396586T>A	ENST00000367397.1	+	3	1132	c.274T>A	c.(274-276)Tat>Aat	p.Y92N	CRB1_ENST00000544212.1_Missense_Mutation_p.Y192N|CRB1_ENST00000535699.1_Missense_Mutation_p.Y642N|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367400.3_Missense_Mutation_p.Y711N|CRB1_ENST00000367399.2_Missense_Mutation_p.Y599N|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	711	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CATTGAAGAGTATGTGGCAGG	0.418000													26	38					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872906	55872906	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:55872906C>A	ENST00000313503.1	+	1	388	c.388C>A	c.(388-390)Cta>Ata	p.L130I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTGCAGTCCTCTACACTACAC	0.468000										HNSCC(53;0.14)			32	171					1.08312e-15	1.45419e-15	1	1	0
EP400	57634	broad.mit.edu	37	12	132529932	132529932	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:132529932G>C	ENST00000333577.4	+	39	7070	c.6961G>C	c.(6961-6963)Gca>Cca	p.A2321P	EP400_ENST00000389561.2_Missense_Mutation_p.A2285P|EP400_ENST00000332482.4_Missense_Mutation_p.A2248P|EP400_ENST00000330386.6_Missense_Mutation_p.A2204P|EP400_ENST00000389562.2_Missense_Mutation_p.A2284P			Q96L91	EP400_HUMAN	E1A binding protein p400	2321					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTTTGACCGCGCAACACCAGG	0.562000													6	37					0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77906891	77906891	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:77906891G>T	ENST00000355300.6	-	2	1532	c.1358C>A	c.(1357-1359)cCg>cAg	p.P453Q	LINGO1_ENST00000561030.1_Missense_Mutation_p.P447Q	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	453	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GATGGCGGGCGGCGGGTCGCC	0.682000													12	7					1.5842e-08	1.85249e-08	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51923373	51923373	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:51923373G>T	ENST00000371117.3	-	16	1535	c.1260C>A	c.(1258-1260)ggC>ggA	p.G420G	PKHD1_ENST00000340994.4_Silent_p.G420G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	420					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGTCAGCAGTGCCGACGCTGA	0.502000													17	130					1.15919e-05	1.25904e-05	1	1	0
KYNU	8942	broad.mit.edu	37	2	143742735	143742735	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:143742735G>C	ENST00000264170.4	+	9	1070	c.812G>C	c.(811-813)tGc>tCc	p.C271S	KYNU_ENST00000375773.2_Missense_Mutation_p.C271S|KYNU_ENST00000409512.1_Missense_Mutation_p.C271S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	271					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GATTTTGCCTGCTGGTGTTCC	0.398000													15	102					0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31251094	31251094	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:31251094C>A	ENST00000435680.1	-	9	1004	c.907G>T	c.(907-909)Gtg>Ttg	p.V303L	MTMR10_ENST00000563714.1_Missense_Mutation_p.V221L|MTMR10_ENST00000314404.8_Missense_Mutation_p.V55L|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	303	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TGCTGCAGCACGTCTTTGATG	0.458000													71	90					5.56898e-48	9.21104e-48	1	1	0
GRID2	2895	broad.mit.edu	37	4	94316827	94316827	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:94316827C>G	ENST00000282020.4	+	9	1573	c.1315C>G	c.(1315-1317)Cgt>Ggt	p.R439G	GRID2_ENST00000510992.1_Missense_Mutation_p.R344G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	439					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAATAACATGCGTGGAGTGGT	0.393000													26	143					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182376466	182376466	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:182376466C>T	ENST00000397033.2	+	17	2316	c.1886C>T	c.(1885-1887)gCt>gTt	p.A629V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	629					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AATTGTTCTGCTGATTTACAG	0.313000													23	110					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233244379	233244379	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:233244379A>T	ENST00000392027.2	+	4	735	c.466A>T	c.(466-468)Aat>Tat	p.N156Y	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	156						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CTCCGTGATGAATCGGGCCAA	0.592000													3	19					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923869	24923869	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:24923869A>G	ENST00000329468.2	+	1	3329	c.2855A>G	c.(2854-2856)tAt>tGt	p.Y952C		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACATCACCATATACTGCATTG	0.488000													44	63					0	0	1	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89476041	89476041	+	RNA	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:89476041C>A	ENST00000484817.1	-	0	160																											TTGACTAGACCTGCAGGAGAT	0.502000													85	73					7.0627e-44	1.15935e-43	1	1	0
CHD6	84181	broad.mit.edu	37	20	40033728	40033728	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:40033728C>A	ENST00000373233.3	-	37	7830	c.7653G>T	c.(7651-7653)ccG>ccT	p.P2551P	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2551					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ATAGAGACGCCGGAGCAGTGG	0.547000													52	107					3.84483e-29	6.0054e-29	1	1	0
FLG	2312	broad.mit.edu	37	1	152277576	152277576	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:152277576G>T	ENST00000368799.1	-	3	9821	c.9786C>A	c.(9784-9786)gcC>gcA	p.A3262A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3262	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A3262A(1)		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)			GCCCGTGACCGGCTCTGTCTT	0.582000									Ichthyosis				235	327					1.10888e-89	1.8769e-89	1	1	0
TWIST1	7291	broad.mit.edu	37	7	19156411	19156411	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:19156411C>A	ENST00000242261.5	-	1	884	c.534G>T	c.(532-534)gtG>gtT	p.V178V		NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	178	Sufficient for transactivation activity (By similarity).				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						GCTCGTGAGCCACATAGCTGC	0.637000													10	19					1.76689e-08	2.05783e-08	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32673888	32673888	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:32673888G>T	ENST00000421745.2	+	22	4644	c.4510G>T	c.(4510-4512)Gat>Tat	p.D1504Y		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1504					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCACCATTTGATCCAGTCCT	0.313000													22	41					1.36565e-18	1.9194e-18	1	1	0
TMEM38B	55151	broad.mit.edu	37	9	108467925	108467925	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:108467925G>T	ENST00000374692.3	+	2	277	c.160G>T	c.(160-162)Gct>Tct	p.A54S	TMEM38B_ENST00000374688.1_5'UTR	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	54						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CTGGTTTACTGCTATGCTCCA	0.388000													60	40					3.79397e-19	5.37582e-19	1	1	0
STAP1	26228	broad.mit.edu	37	4	68447088	68447088	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:68447088G>T	ENST00000265404.2	+	5	511	c.429G>T	c.(427-429)gaG>gaT	p.E143D	STAP1_ENST00000396225.1_Missense_Mutation_p.E143D	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	143					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AAGTCCTAGAGAGAGAAAAGA	0.438000													55	95					2.5401e-28	3.93218e-28	1	1	0
WDR78	79819	broad.mit.edu	37	1	67340507	67340507	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:67340507T>A	ENST00000371026.3	-	5	812	c.757A>T	c.(757-759)Aca>Tca	p.T253S	WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Missense_Mutation_p.T253S|WDR78_ENST00000371022.3_Missense_Mutation_p.T253S	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	253										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACCATGACTGTGGGCAAGTCA	0.383000													20	68					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26388374	26388374	+	Silent	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:26388374C>G	ENST00000356709.4	+	4	687	c.576C>G	c.(574-576)gcC>gcG	p.A192A	BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Silent_p.A76A|BTN2A2_ENST00000416795.2_Silent_p.A192A|BTN2A2_ENST00000469230.1_Silent_p.A192A|BTN2A2_ENST00000432533.2_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	192	Ig-like C2-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TTGTGCCCGCCCTGAAGGAGG	0.572000													34	80					0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173772582	173772582	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:173772582C>A	ENST00000356198.2	-	6	905	c.620G>T	c.(619-621)tGg>tTg	p.W207L	CENPL_ENST00000345664.6_Missense_Mutation_p.W161L|CENPL_ENST00000367710.3_Missense_Mutation_p.W161L	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	161					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						ACAGCAGAACCAGCCAGTCCA	0.413000													20	99					2.39556e-15	3.20145e-15	1	1	0
RARG	5916	broad.mit.edu	37	12	53609519	53609519	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:53609519G>C	ENST00000425354.2	-	4	731	c.244C>G	c.(244-246)Ccg>Gcg	p.P82A	RARG_ENST00000394426.1_Missense_Mutation_p.P82A|RARG_ENST00000543762.1_Intron|RARG_ENST00000543726.1_Intron|RARG_ENST00000338561.5_Missense_Mutation_p.P71A|RARG_ENST00000327550.3_Missense_Mutation_p.P10A	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	82	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CGAGGAGGCGGAGGGGGCGAG	0.607000													23	82					0	0	1	0	0
CD40LG	959	broad.mit.edu	37	X	135732556	135732556	+	Splice_Site	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:135732556G>A	ENST00000370629.2	+	2	344	c.288_splice	c.e2+1	p.K96_splice	CD40LG_ENST00000370628.2_Splice_Site_p.K96_splice	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	96					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	GCTTTGTGAAGGTAAGCAGCT	0.353000									Immune Deficiency with Hyper-IgM				34	23					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15083540	15083540	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:15083540C>A	ENST00000430939.2	-	2	325	c.196G>T	c.(196-198)Gac>Tac	p.D66Y	SLC1A6_ENST00000600144.1_Silent_p.L61L|SLC1A6_ENST00000221742.3_Silent_p.L61L|SLC1A6_ENST00000598504.1_Silent_p.L61L|SLC1A6_ENST00000544886.2_Silent_p.L61L			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	0					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CGCTGACCGTCAGCAGAATGA	0.622000													8	18					0.0692343	0.0702026	1	1	0
ALPP	250	broad.mit.edu	37	2	233244378	233244378	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:233244378G>A	ENST00000392027.2	+	4	734	c.465G>A	c.(463-465)atG>atA	p.M155I	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	155						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCTCCGTGATGAATCGGGCCA	0.592000													3	19					0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76507172	76507172	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:76507172G>C	ENST00000527881.1	+	2	1538	c.512G>C	c.(511-513)cGc>cCc	p.R171P	TSKU_ENST00000333090.4_Missense_Mutation_p.R171P			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	171						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CTCATTCACCGCCTCGTGCCC	0.662000													37	74					0	0	1	0	0
TCEAL4	79921	broad.mit.edu	37	X	102841914	102841914	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:102841914G>A	ENST00000472745.1	+	3	863	c.311G>A	c.(310-312)gGa>gAa	p.G104E	TCEAL4_ENST00000494801.1_Missense_Mutation_p.G104E|TCEAL4_ENST00000472484.1_Missense_Mutation_p.G104E|TCEAL4_ENST00000468024.1_Missense_Mutation_p.G104E|TCEAL4_ENST00000415568.2_Missense_Mutation_p.G104E|TCEAL4_ENST00000372629.4_Missense_Mutation_p.G247E			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	104	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						gagagtgaaggagagCCAGGG	0.512000													5	30					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857227	210857227	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:210857227G>T	ENST00000367007.4	-	11	2454	c.2285C>A	c.(2284-2286)aCc>aAc	p.T762N	KCNH1_ENST00000271751.4_Missense_Mutation_p.T789N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	789	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCACGCACGGTGACCACGCT	0.647000													12	62					6.81908e-15	9.02983e-15	1	1	0
COL26A1	136227	broad.mit.edu	37	7	101199152	101199152	+	RNA	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:101199152G>A	ENST00000313669.7	+	0	1357				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		TGGGATCCACGGTGAGCAGTG	0.627000													6	16					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155750179	155750179	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:155750179C>A	ENST00000159060.2	-	9	996	c.894G>T	c.(892-894)gtG>gtT	p.V298V		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	298	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGTGGCTTACCACCTATGTGA	0.443000													32	37					4.14481e-20	5.92115e-20	1	1	0
MATK	4145	broad.mit.edu	37	19	3778545	3778545	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:3778545C>A	ENST00000310132.6	-	13	1644	c.1246G>T	c.(1246-1248)Gag>Tag	p.E416*	MATK_ENST00000585778.1_Nonsense_Mutation_p.E415*|MATK_ENST00000395045.2_Nonsense_Mutation_p.E417*|MATK_ENST00000395040.2_Nonsense_Mutation_p.E375*	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	416	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)		GAGAAGACCTCCCAGAGCAGC	0.627000													6	21					0.000274275	0.000291355	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141356359	141356359	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:141356359C>G	ENST00000389484.3	-	43	8006	c.7035G>C	c.(7033-7035)atG>atC	p.M2345I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2345					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)		GAGTAGATCTCATGATACTTG	0.348000										TSP Lung(27;0.18)			23	58					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143381847	143381847	+	Splice_Site	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:143381847C>T	ENST00000519651.1	-	8	736	c.633_splice	c.e8+1	p.E211_splice	TSNARE1_ENST00000307180.3_Splice_Site_p.E430_splice|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000524325.1_Splice_Site_p.E429_splice|TSNARE1_ENST00000520166.1_Splice_Site_p.E430_splice			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	430					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCAGCCTCACCTCCATCTGCA	0.647000													7	41					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390133	197390133	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:197390133T>A	ENST00000367400.3	+	6	1310	c.1175T>A	c.(1174-1176)aTc>aAc	p.I392N	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.I323N|CRB1_ENST00000543483.1_Missense_Mutation_p.I91N|CRB1_ENST00000367399.2_Missense_Mutation_p.I280N|CRB1_ENST00000538660.1_Missense_Mutation_p.I392N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	392	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTAACAGGAATCCACTGCGAA	0.343000													21	69					0	0	1	0	0
GTF2E1	2960	broad.mit.edu	37	3	120499951	120499951	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:120499951C>A	ENST00000283875.5	+	5	1047	c.954C>A	c.(952-954)aaC>aaA	p.N318K		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	318					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		CTGATGACAACGAAGAGGTCA	0.522000													11	87					6.40141e-05	6.89261e-05	1	1	0
CRYZ	1429	broad.mit.edu	37	1	75172830	75172830	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:75172830A>C	ENST00000417775.1	-	8	1193	c.689T>G	c.(688-690)cTt>cGt	p.L230R	CRYZ_ENST00000370872.3_Missense_Mutation_p.L93R|CRYZ_ENST00000370871.3_Intron|CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000340866.5_Missense_Mutation_p.L230R	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	230					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	GTCTTTACTAAGATTTACATT	0.279000													23	76					0	0	1	0	0
HOXB7	3217	broad.mit.edu	37	17	46688210	46688210	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:46688210C>G	ENST00000239165.7	-	1	169	c.71G>C	c.(70-72)gGa>gCa	p.G24A	HOXB7_ENST00000567101.1_Intron	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	24						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						TGGGAAGGCTCCGGTAGCGAA	0.522000													14	73					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105473057	105473057	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:105473057C>T	ENST00000361360.2	+	1	1089	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	363	POU-specific.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	p.F363F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCTGCCGCTTCGAGGCCCTGC	0.632000													23	84					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654130	19654130	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:19654130C>A	ENST00000586018.1	+	7	1171	c.1069C>A	c.(1069-1071)Cca>Aca	p.P357T	CILP2_ENST00000291495.4_Missense_Mutation_p.P351T			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	351	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGGACTGCGCCCAGACCAGGC	0.652000													46	42					1.13205e-32	1.79069e-32	1	1	0
FGB	2244	broad.mit.edu	37	4	155490788	155490788	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:155490788G>C	ENST00000302068.4	+	7	1144	c.1081G>C	c.(1081-1083)Gta>Cta	p.V361L	FGB_ENST00000509493.1_Missense_Mutation_p.V142L|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	361	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.V361L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGGATTCACTGTACAGAATGA	0.443000													21	42					0	0	1	0	0
WDFY1	57590	broad.mit.edu	37	2	224743393	224743393	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:224743393G>A	ENST00000233055.4	-	12	1330	c.1228C>T	c.(1228-1230)Cac>Tac	p.H410Y	WDFY1_ENST00000462702.1_5'UTR	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	410						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TCAGATCAGTGCGGAGAAAAC	0.557000													10	34					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119325778	119325778	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:119325778G>T	ENST00000273371.4	+	2	303	c.231G>T	c.(229-231)ggG>ggT	p.G77G	PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000495992.1_Silent_p.G77G|PLA1A_ENST00000494440.1_Silent_p.G61G	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	77					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAAACTCTGGGTTCAATGCCA	0.443000													31	240					6.03168e-27	9.19013e-27	1	1	0
GPR112	139378	broad.mit.edu	37	X	135431457	135431457	+	Silent	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:135431457A>G	ENST00000394143.1	+	6	5883	c.5592A>G	c.(5590-5592)ccA>ccG	p.P1864P	GPR112_ENST00000287534.4_Silent_p.P1801P|GPR112_ENST00000394141.1_Silent_p.P1659P|GPR112_ENST00000370652.1_Silent_p.P1864P|GPR112_ENST00000412101.1_Silent_p.P1659P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1864					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGAATTTCCAGTTCTGGGAA	0.433000													67	65					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629685	122629685	+	Splice_Site	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:122629685A>G	ENST00000195173.4	-	22	3726		c.e22+1		SEMA5B_ENST00000357599.3_Splice_Site|SEMA5B_ENST00000451055.2_Splice_Site			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B						cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		gaaGGCTCCCACCTTGAATTC	0.527000													32	26					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393763	164393763	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:164393763C>T	ENST00000280605.3	-	1	1284	c.1124G>A	c.(1123-1125)aGt>aAt	p.S375N		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	375						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TAGTGCCACACTTACCATGTT	0.463000													23	64					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12865715	12865715	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:12865715A>G	ENST00000549706.1	+	5	830	c.506A>G	c.(505-507)aAg>aGg	p.K169R	BEST2_ENST00000042931.1_Missense_Mutation_p.K169R|BEST2_ENST00000553030.1_Missense_Mutation_p.K169R			Q8NFU1	BEST2_HUMAN	bestrophin 2	169					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GAGGAGCGCAAGAAGTTTGAA	0.632000													8	9					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36178287	36178287	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:36178287C>T	ENST00000357641.6	+	6	2414	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	BRPF3_ENST00000339717.7_Missense_Mutation_p.R721C|BRPF3_ENST00000534400.1_Missense_Mutation_p.R721C|BRPF3_ENST00000534694.1_Missense_Mutation_p.R721C|BRPF3_ENST00000443324.2_Missense_Mutation_p.R721C|BRPF3_ENST00000543502.1_Missense_Mutation_p.R721C	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	721					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AGACTTTTACCGCTTCTCCTG	0.627000													15	61					0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43640774	43640774	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:43640774T>C	ENST00000378069.4	-	9	1093	c.946A>G	c.(946-948)Att>Gtt	p.I316V	MAOB_ENST00000536181.1_Missense_Mutation_p.I300V|MAOB_ENST00000538942.1_Missense_Mutation_p.I300V	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	316					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	CCATCAATAATCATGGTTCCA	0.378000													12	47					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171198	214171198	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:214171198C>A	ENST00000366958.4	+	2	1928	c.1320C>A	c.(1318-1320)ccC>ccA	p.P440P	PROX1_ENST00000261454.4_Silent_p.P440P|PROX1_ENST00000498508.2_Silent_p.P440P|PROX1_ENST00000435016.1_Silent_p.P440P	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	440					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAGCACTGCCCCTGGTTGTCC	0.632000													27	118					1.88708e-17	2.61844e-17	1	1	0
GNL3L	54552	broad.mit.edu	37	X	54578051	54578051	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:54578051C>A	ENST00000336470.4	+	11	1053	c.914C>A	c.(913-915)cCa>cAa	p.P305Q	GNL3L_ENST00000360845.2_Missense_Mutation_p.P305Q	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	305	G.				ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TTGGATGCTCCAGGCATTGTC	0.597000													11	76					7.93312e-07	8.87123e-07	1	1	0
MCF2L	23263	broad.mit.edu	37	13	113729334	113729334	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:113729334C>T	ENST00000397030.1	+	11	1275	c.1238C>T	c.(1237-1239)gCc>gTc	p.A413V	MCF2L_ENST00000434480.2_Missense_Mutation_p.A386V|MCF2L_ENST00000442652.2_Missense_Mutation_p.A410V|MCF2L_ENST00000375601.3_Missense_Mutation_p.A384V|MCF2L_ENST00000375604.2_Missense_Mutation_p.A437V|MCF2L_ENST00000375597.4_Missense_Mutation_p.A378V|MCF2L_ENST00000375608.3_Missense_Mutation_p.A410V|MCF2L_ENST00000423482.2_Missense_Mutation_p.A378V|MCF2L_ENST00000535094.2_Missense_Mutation_p.A380V|MCF2L_ENST00000421756.1_Missense_Mutation_p.A384V			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	410					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGGGCCCGGGCCCTGTCTCTG	0.632000													28	60					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069894	9069894	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:9069894G>T	ENST00000397910.4	-	3	17755	c.17552C>A	c.(17551-17553)cCt>cAt	p.P5851H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5853	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						TGTTACAAAAGGAAAAGTGGA	0.478000													51	50					4.09106e-26	6.21156e-26	1	1	0
RALA	5898	broad.mit.edu	37	7	39730155	39730155	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:39730155G>C	ENST00000005257.2	+	3	669	c.289G>C	c.(289-291)Gaa>Caa	p.E97Q	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	97					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						CTCTATTACAGAAATGGAATC	0.433000													8	29					0	0	1	0	0
DCK	1633	broad.mit.edu	37	4	71888189	71888189	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:71888189A>T	ENST00000286648.5	+	3	710	c.313A>T	c.(313-315)Ata>Tta	p.I105L	DCK_ENST00000504730.1_Missense_Mutation_p.I105L|DCK_ENST00000504952.1_Missense_Mutation_p.I105L	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	105					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TCTCAGTCGAATAAGAGCTCA	0.388000													25	106					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121691969	121691969	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:121691969C>A	ENST00000393386.2	+	25	6639	c.6228C>A	c.(6226-6228)gaC>gaA	p.D2076E	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D1209E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2076	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAGGCACAGACTACATCAATG	0.428000													10	25					0.000978159	0.0010253	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102478435	102478435	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:102478435C>A	ENST00000360184.4	+	33	7006	c.6842C>A	c.(6841-6843)aCa>aAa	p.T2281K		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2281	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGGCTCTTCACACACGTGCTG	0.502000													22	145					1.96895e-08	2.28703e-08	1	1	0
RGS18	64407	broad.mit.edu	37	1	192129569	192129569	+	Splice_Site	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:192129569G>T	ENST00000367460.3	+	3	464	c.283_splice	c.e3+1	p.D95_splice	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	95	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTCCCATAGAGGTTAGTGGTA	0.368000													28	46					6.53348e-20	9.30299e-20	1	1	0
OR8B12	219858	broad.mit.edu	37	11	124413072	124413072	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:124413072C>A	ENST00000306842.2	-	1	503	c.479G>T	c.(478-480)gGa>gTa	p.G160V		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G160E(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CATTATGCTTCCTGTGTGGGC	0.502000													27	44					3.1745e-13	4.09157e-13	1	1	0
CEP350	9857	broad.mit.edu	37	1	179965938	179965938	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:179965938G>A	ENST00000367607.3	+	6	1064	c.646G>A	c.(646-648)Gga>Aga	p.G216R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	216						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATTAGGATGGGAGCTTCTAT	0.378000													4	20					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028443	37028443	+	Missense_Mutation	SNP	C	C	A	rs148899112		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:37028443C>A	ENST00000358047.3	+	1	2012	c.1960C>A	c.(1960-1962)Ctc>Atc	p.L654I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	654										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTGTCCCATCTCTGCCCAGA	0.647000													70	94					3.37217e-29	5.27659e-29	1	1	0
HRNR	388697	broad.mit.edu	37	1	152190824	152190824	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:152190824G>T	ENST00000368801.2	-	3	3356	c.3281C>A	c.(3280-3282)gCt>gAt	p.A1094D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1094					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGAGCTAGCTCCATGTTG	0.567000													68	253					1.09326e-46	1.80481e-46	1	1	0
RAI14	26064	broad.mit.edu	37	5	34757585	34757585	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:34757585A>G	ENST00000265109.3	+	3	336	c.49A>G	c.(49-51)Aac>Gac	p.N17D	RAI14_ENST00000512629.1_Missense_Mutation_p.N17D|RAI14_ENST00000515799.1_Missense_Mutation_p.N20D|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Missense_Mutation_p.N9D|RAI14_ENST00000397449.1_Missense_Mutation_p.N10D|RAI14_ENST00000503673.1_Missense_Mutation_p.N17D|RAI14_ENST00000428746.2_Missense_Mutation_p.N17D	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	17						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CAATGAGTGGAACAAGAATGA	0.577000													20	80					0	0	1	0	0
TMUB2	79089	broad.mit.edu	37	17	42266554	42266554	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:42266554T>G	ENST00000319511.6	+	2	790	c.140T>G	c.(139-141)cTg>cGg	p.L47R	TMUB2_ENST00000587172.1_Missense_Mutation_p.L47R|TMUB2_ENST00000446571.3_Missense_Mutation_p.L47R|TMUB2_ENST00000357984.3_Missense_Mutation_p.L47R|TMUB2_ENST00000592825.1_Missense_Mutation_p.L47R|TMUB2_ENST00000590235.1_Missense_Mutation_p.L47R|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.L47R|TMUB2_ENST00000589856.1_Missense_Mutation_p.L47R|TMUB2_ENST00000587989.1_Missense_Mutation_p.L67R|TMUB2_ENST00000538716.2_Missense_Mutation_p.L67R	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	67						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AACCAGCTCCTGGGCGCTATT	0.602000													53	104					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35774071	35774071	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:35774071T>G	ENST00000440995.2	+	28	4011	c.4011T>G	c.(4009-4011)aaT>aaG	p.N1337K	SPEF2_ENST00000356031.3_Missense_Mutation_p.N1342K|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1342					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAGGAAAAATGAACTGAGGG	0.403000													18	35					0	0	1	0	0
CFHR3	10878	broad.mit.edu	37	1	196762642	196762642	+	Nonstop_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:196762642A>T	ENST00000367425.4	+	6	1084	c.992A>T	c.(991-993)tAa>tTa	p.*331L	CFHR3_ENST00000391985.3_Nonstop_Mutation_p.*270L	NM_021023.5	NP_066303.2			complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						AGATGCGAATAAGGCAGCATT	0.373000													58	109					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542632	55542632	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:55542632G>T	ENST00000220676.1	+	4	6338	c.6190G>T	c.(6190-6192)Gca>Tca	p.A2064S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2064					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATCTTTAAAGCAGTCGATGA	0.343000													15	14					2.23348e-06	2.46278e-06	1	1	0
ROGDI	79641	broad.mit.edu	37	16	4849746	4849746	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:4849746A>C	ENST00000322048.7	-	6	751	c.373T>G	c.(373-375)Tac>Gac	p.Y125D	ROGDI_ENST00000586336.1_5'UTR	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	125						intracellular				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						GTAAGCAGGTAAATGGCTTGG	0.632000													19	30					0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44638088	44638088	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:44638088T>C	ENST00000332990.5	-	3	219	c.203A>G	c.(202-204)gAg>gGg	p.E68G		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	68						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						CTGAGGCTGCTCACCAGCTTG	0.378000													18	30					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110384209	110384209	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:110384209A>G	ENST00000265175.5	+	2	341	c.286A>G	c.(286-288)Aca>Gca	p.T96A	SEC24B_ENST00000399100.2_Missense_Mutation_p.T96A|SEC24B_ENST00000504968.2_Missense_Mutation_p.T127A	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	96					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGCTCTCTATACAGTACCAAC	0.478000													27	72					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504324	70504324	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:70504324C>A	ENST00000310961.5	+	22	3136	c.2718C>A	c.(2716-2718)ccC>ccA	p.P906P	LRRC7_ENST00000415775.2_Silent_p.P185P|LRRC7_ENST00000035383.5_Silent_p.P901P			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	901						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATTCCAATCCCAACAGGAGTC	0.438000													21	64					6.32553e-13	8.08107e-13	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108634128	108634128	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:108634128A>T	ENST00000332082.4	+	9	1970	c.1152A>T	c.(1150-1152)aaA>aaT	p.K384N	WSCD2_ENST00000261400.3_Missense_Mutation_p.K384N|WSCD2_ENST00000549903.1_Missense_Mutation_p.K384N|WSCD2_ENST00000547525.1_Missense_Mutation_p.K384N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	384						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AAGGGTTTAAAGGTGAGCGGG	0.612000													53	145					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21730760	21730760	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:21730760C>A	ENST00000584755.1	+	2	459	c.62C>A	c.(61-63)gCc>gAc	p.A21D	UBBP4_ENST00000578713.1_Missense_Mutation_p.A21D|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GAGCCCAGTGCCACTATCGAA	0.473000													14	8					1.02788e-11	1.28485e-11	1	1	0
SIRPG	55423	broad.mit.edu	37	20	1617131	1617131	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:1617131C>A	ENST00000381580.1	-	3	531	c.352G>T	c.(352-354)Gta>Tta	p.V118L	RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.V151L|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.V151L|SIRPG_ENST00000216927.4_Missense_Mutation_p.V151L			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	151	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGGCCCAATACCACGGGGGCA	0.512000													30	67					5.91797e-21	8.55254e-21	1	1	0
DNM1P46	196968	broad.mit.edu	37	15	100340290	100340290	+	RNA	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:100340290C>G	ENST00000341853.1	-	0	636					NR_003260.1																						TCTGCCGACTCCTCCACGAGT	0.632000													16	16					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702085	187702085	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:187702085C>A	ENST00000295131.2	-	5	730	c.691G>T	c.(691-693)Ggg>Tgg	p.G231W		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	231					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CAGGGAATCCCAAGGTGTTTG	0.353000													43	57					1.61572e-30	2.53733e-30	1	1	0
FOLH1	2346	broad.mit.edu	37	11	49208318	49208318	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:49208318C>A	ENST00000340334.7	-	6	840	c.472G>T	c.(472-474)Gat>Tat	p.D158Y	FOLH1_ENST00000356696.3_Missense_Mutation_p.D173Y|FOLH1_ENST00000533034.1_Missense_Mutation_p.D158Y|FOLH1_ENST00000256999.2_Missense_Mutation_p.D173Y|FOLH1_ENST00000343844.4_5'UTR	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	173					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TACACTAGATCGCCCTGTTGA	0.393000													56	74					5.62145e-24	8.38878e-24	1	1	0
ACOX1	51	broad.mit.edu	37	17	73945656	73945656	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:73945656G>A	ENST00000537812.1	-	11	2038	c.1390C>T	c.(1390-1392)Ctt>Ttt	p.L464F	ACOX1_ENST00000293217.5_Missense_Mutation_p.L502F|ACOX1_ENST00000301608.4_Missense_Mutation_p.L502F	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	502					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TCTTTTTGAAGGTTTTTTGCA	0.428000													14	84					0	0	1	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591287	56591287	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:56591287G>T	ENST00000338222.5	+	1	1262	c.981G>T	c.(979-981)caG>caT	p.Q327H		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	327						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						CAGCTACCCAGAGTTCTGCAA	0.567000													10	39					0.00829132	0.0084964	1	1	0
GPR142	350383	broad.mit.edu	37	17	72368385	72368385	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:72368385G>T	ENST00000335666.4	+	4	1083	c.1035G>T	c.(1033-1035)cgG>cgT	p.R345R		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	345						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGAGGGGCCGGAGTGGGCTGC	0.627000													29	34					2.65835e-16	3.63071e-16	1	1	0
CLCN5	1184	broad.mit.edu	37	X	49837207	49837207	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:49837207G>A	ENST00000376088.3	+	6	1020	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	CLCN5_ENST00000376091.3_Missense_Mutation_p.G127S|CLCN5_ENST00000376108.3_Missense_Mutation_p.G57S|CLCN5_ENST00000307367.2_Missense_Mutation_p.G57S	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	57					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TGCTTTTTCCGGCTGGTTGTT	0.388000													26	139					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30200706	30200706	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:30200706C>T	ENST00000397771.2	-	14	1451	c.1274G>A	c.(1273-1275)gGg>gAg	p.G425E	ASCC2_ENST00000542393.1_Missense_Mutation_p.G349E|ASCC2_ENST00000307790.3_Missense_Mutation_p.G425E			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GTTAGGCTCCCCATTAGGCTC	0.562000													164	226					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45279172	45279172	+	Silent	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:45279172A>G	ENST00000313237.5	-	13	1540	c.1390T>C	c.(1390-1392)Ttg>Ctg	p.L464L	PHF21B_ENST00000403565.1_Silent_p.L260L|PHF21B_ENST00000396103.3_Silent_p.L422L|PHF21B_ENST00000404079.2_Silent_p.L410L	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	464							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTTGTCTTCAACTCCAGGCAT	0.642000													6	57					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635295	122635295	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:122635295C>A	ENST00000249284.2	-	1	459	c.394G>T	c.(394-396)Ggt>Tgt	p.G132C		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	132					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATCAGAGAACCCAGTAATATC	0.423000													11	104					2.80697e-09	3.32707e-09	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94289024	94289024	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:94289024C>G	ENST00000515393.1	-	3	879	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q	MCTP1_ENST00000312216.8_Missense_Mutation_p.E73Q|MCTP1_ENST00000505208.1_Missense_Mutation_p.E73Q|MCTP1_ENST00000429576.2_Missense_Mutation_p.E73Q	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	294	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTAAAAACTTCTTTTCCTCCG	0.363000													3	12					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87083865	87083865	+	Silent	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:87083865T>C	ENST00000265723.4	-	5	441	c.330A>G	c.(328-330)gaA>gaG	p.E110E	ABCB4_ENST00000358400.3_Silent_p.E110E|ABCB4_ENST00000545634.1_Silent_p.E110E|ABCB4_ENST00000359206.3_Silent_p.E110E|ABCB4_ENST00000453593.1_Silent_p.E110E	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	110	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCATTTCTTCTTCCAGAATTT	0.269000													7	37					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53262031	53262031	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:53262031G>T	ENST00000294353.6	+	7	1547	c.1402G>T	c.(1402-1404)Gca>Tca	p.A468S	ZYG11B_ENST00000545132.1_Missense_Mutation_p.A468S|ZYG11B_ENST00000443756.2_Missense_Mutation_p.A468S	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	468							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GCAAAGGATGGCAGTTGCTAT	0.423000													11	46					1.49906e-05	1.62212e-05	1	1	0
DNAJC10	54431	broad.mit.edu	37	2	183597246	183597246	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:183597246C>G	ENST00000264065.6	+	10	1241	c.826C>G	c.(826-828)Cga>Gga	p.R276G	DNAJC10_ENST00000537515.1_Missense_Mutation_p.R276G	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	276					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCACAGACACGACTCAGGCT	0.348000													21	154					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427872	3427872	+	RNA	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:3427872G>A	ENST00000529482.1	+	0	989																											TCTTTCTGGGGATAGCTTCAC	0.592000													6	40					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10602727	10602727	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:10602727T>A	ENST00000171111.5	-	3	1398	c.851A>T	c.(850-852)cAg>cTg	p.Q284L	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.Q284L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	284	BACK.		Q -> L (in a lung adenocarcinoma patient).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.Q284L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CTTCTGCAGCTGCATCTGCAG	0.612000													37	39					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8049444	8049444	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:8049444C>G	ENST00000317276.4	-	17	2287	c.2050G>C	c.(2050-2052)Gca>Cca	p.A684P	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000354903.5_Missense_Mutation_p.A668P|PER1_ENST00000581082.1_Missense_Mutation_p.A664P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	684	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GACAGCGCTGCTGACGGCGGA	0.652000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					3	62					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94031948	94031948	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:94031948G>T	ENST00000282020.4	+	4	837	c.579G>T	c.(577-579)atG>atT	p.M193I	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.M98I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	193					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.M193I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGCAGGGAATGGATGTTGCAC	0.398000													49	91					3.39706e-21	4.91753e-21	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181548222	181548222	+	Silent	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:181548222T>C	ENST00000526775.1	+	5	796	c.631T>C	c.(631-633)Ttg>Ctg	p.L211L	CACNA1E_ENST00000367573.2_Silent_p.L211L|CACNA1E_ENST00000360108.3_Silent_p.L211L|CACNA1E_ENST00000367570.1_Silent_p.L211L|CACNA1E_ENST00000357570.5_Silent_p.L162L|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Silent_p.L162L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	211					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						GCAGATTGTGTTGAAGTCCAT	0.473000													11	53					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74375975	74375975	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:74375975G>T	ENST00000253577.3	-	1	157	c.133C>A	c.(133-135)Caa>Aaa	p.Q45K	ABCB7_ENST00000373394.3_Missense_Mutation_p.Q45K|ABCB7_ENST00000339447.4_Missense_Mutation_p.Q45K	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	45					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GCGCCGAGTTGATGTGGCCTC	0.617000											OREG0019879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	19					0.115264	0.116604	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34149390	34149390	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:34149390G>T	ENST00000346193.3	-	1	1057	c.1006C>A	c.(1006-1008)Cat>Aat	p.H336N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	336										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCGGAGATGGGACTCTCCA	0.652000													6	50					0.000157383	0.000167798	1	1	0
COLEC12	81035	broad.mit.edu	37	18	347095	347095	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr18:347095C>A	ENST00000400256.3	-	5	734	c.527G>T	c.(526-528)gGc>gTc	p.G176V		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	176					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CGTGACATAGCCATTATACGC	0.458000													30	95					9.93527e-08	1.13733e-07	1	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063797	48063797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:48063797C>T	ENST00000316364.5	+	19	3476	c.3037C>T	c.(3037-3039)Cag>Tag	p.Q1013*	SEMA6D_ENST00000389433.2_Nonsense_Mutation_p.Q994*|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000536845.2_Nonsense_Mutation_p.Q1013*|SEMA6D_ENST00000354744.4_Nonsense_Mutation_p.Q957*|SEMA6D_ENST00000358066.4_Nonsense_Mutation_p.Q951*|SEMA6D_ENST00000558014.1_Nonsense_Mutation_p.Q951*|SEMA6D_ENST00000389428.3_Nonsense_Mutation_p.Q938*|SEMA6D_ENST00000389432.2_Nonsense_Mutation_p.Q970*|SEMA6D_ENST00000537942.1_Nonsense_Mutation_p.Q951*	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	1013					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGACTATATTCAGGGAACACC	0.507000													35	123					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60753220	60753220	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:60753220C>G	ENST00000303375.5	+	10	2041	c.1639C>G	c.(1639-1641)Cgc>Ggc	p.R547G		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	547	C-type lectin 3.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGAGGCCCGGCGCCTGTGCAC	0.612000													71	111					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250767	18250767	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:18250767G>T	ENST00000377369.2	+	3	792	c.519G>T	c.(517-519)caG>caT	p.Q173H	SLC39A12_ENST00000377371.3_Missense_Mutation_p.Q173H|SLC39A12_ENST00000539911.1_Missense_Mutation_p.Q39H|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Q173H	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	173					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCACCAGGCAGTACTTTGACA	0.408000													34	30					1.84765e-07	2.104e-07	1	1	0
GNG7	2788	broad.mit.edu	37	19	2515051	2515051	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:2515051A>C	ENST00000382159.3	-	5	373	c.176T>G	c.(175-177)tTt>tGt	p.F59C		NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein), gamma 7	59					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGTCCTTAAAGGGGTTCTC	0.498000													24	66					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12863556	12863556	+	Silent	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:12863556G>C	ENST00000155926.4	+	2	1860	c.441G>C	c.(439-441)ctG>ctC	p.L147L	TRIB2_ENST00000381465.2_Silent_p.L11L|TRIB2_ENST00000405331.3_Silent_p.L147L	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	147	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)					GCAAGAAGCTGAGAGAGGAGG	0.557000													52	37					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4695551	4695551	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:4695551G>T	ENST00000354582.6	+	12	1327	c.977G>T	c.(976-978)tGc>tTc	p.C326F	ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000302640.8_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.C326F|ITPR1_ENST00000443694.2_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.C326F|ITPR1_ENST00000357086.4_Missense_Mutation_p.C326F			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	326	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GAGGAAGAATGCCTGGAGTTT	0.448000													3	10					0.00024832	0.000264429	1	1	0
SSMEM1	136263	broad.mit.edu	37	7	129853351	129853351	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:129853351G>C	ENST00000297819.3	+	2	266	c.215G>C	c.(214-216)gGg>gCg	p.G72A		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		GAAGGCAGTGGGACAAGTACT	0.393000													48	51					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2890684	2890684	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr18:2890684C>A	ENST00000254528.3	+	4	718	c.559C>A	c.(559-561)Cta>Ata	p.L187I		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	187					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)		GATACAGGTGCTAGAGGAGAA	0.512000													30	54					2.12542e-12	2.69157e-12	1	1	0
CHRDL1	91851	broad.mit.edu	37	X	109964752	109964752	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:109964752G>T	ENST00000218054.4	-	5	501	c.305C>A	c.(304-306)tCc>tAc	p.S102Y	CHRDL1_ENST00000372042.1_Missense_Mutation_p.S103Y|CHRDL1_ENST00000372045.1_Missense_Mutation_p.S96Y|CHRDL1_ENST00000394797.4_Missense_Mutation_p.S102Y|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000444321.2_Missense_Mutation_p.S102Y	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	96					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TGGGGGTAAGGAGTCTTCTAG	0.463000													84	130					2.31008e-40	3.7287e-40	1	1	0
HPSE2	60495	broad.mit.edu	37	10	100904094	100904094	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:100904094C>T	ENST00000370552.3	-	3	570	c.511G>A	c.(511-513)Gat>Aat	p.D171N	HPSE2_ENST00000370546.1_Missense_Mutation_p.D171N|HPSE2_ENST00000370549.1_Missense_Mutation_p.D171N|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	171					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		AGCATAACATCAGGGTGCTGG	0.423000													26	75					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496702	20496702	+	RNA	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:20496702C>G	ENST00000555186.1	+	0	755					NR_038836.1																						ATGGTTTGAACATGAAAGAAA	0.418000													7	90					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130911408	130911408	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:130911408C>A	ENST00000409031.1	-	17	3025	c.1877G>T	c.(1876-1878)tGg>tTg	p.W626L	SMPD4_ENST00000453750.1_Missense_Mutation_p.W375L|SMPD4_ENST00000452225.2_Missense_Mutation_p.W367L|SMPD4_ENST00000431183.2_Missense_Mutation_p.W524L|SMPD4_ENST00000351288.6_Missense_Mutation_p.W597L|SMPD4_ENST00000339679.7_Missense_Mutation_p.W484L|SMPD4_ENST00000443958.2_Missense_Mutation_p.W290L|SMPD4_ENST00000426662.2_Missense_Mutation_p.W262L	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	587					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AAAGCCCAGCCATGAGAGGAA	0.592000													44	75					6.61955e-31	1.04141e-30	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35806907	35806907	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:35806907G>T	ENST00000440995.2	+	35	5094	c.5094G>T	c.(5092-5094)agG>agT	p.R1698S	SPEF2_ENST00000303129.4_Missense_Mutation_p.R500S|SPEF2_ENST00000356031.3_Missense_Mutation_p.R1703S|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1703				D -> G (in Ref. 1; BAB15563).	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGGAGAAAAGGGAACAGAAGG	0.433000													7	12					0.000157383	0.000167798	1	1	0
ERN2	10595	broad.mit.edu	37	16	23716242	23716242	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:23716242G>T	ENST00000256797.4	-	8	1128	c.960C>A	c.(958-960)gaC>gaA	p.D320E	ERN2_ENST00000457008.2_Missense_Mutation_p.D272E	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	272				A -> T (in Ref. 1; BAB21297).	apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGGTGGCTGTGTCCCGGGGGC	0.667000													21	105					9.85521e-28	1.51217e-27	1	1	0
LOC645166	645166	broad.mit.edu	37	1	148932909	148932909	+	RNA	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:148932909C>A	ENST00000539543.1	+	0	165					NR_027355.1																						GGCCAAGACTCCGTCCTGCAA	0.607000													11	323					8.10497e-08	9.29028e-08	1	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119087273	119087273	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:119087273G>T	ENST00000264245.4	+	3	790	c.258G>T	c.(256-258)caG>caT	p.Q86H		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	86	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGTACCTCCAGGACATCCACT	0.498000													19	112					5.03518e-11	6.21363e-11	1	1	0
ERN2	10595	broad.mit.edu	37	16	23716244	23716244	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:23716244C>T	ENST00000256797.4	-	8	1126	c.958G>A	c.(958-960)Gac>Aac	p.D320N	ERN2_ENST00000457008.2_Missense_Mutation_p.D272N	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	272				A -> T (in Ref. 1; BAB21297).	apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GTGGCTGTGTCCCGGGGGCCT	0.672000													21	103					0	0	1	0	0
PEX11A	8800	broad.mit.edu	37	15	90227119	90227119	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:90227119G>A	ENST00000300056.3	-	3	382	c.233C>T	c.(232-234)aCt>aTt	p.T78I	PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	78					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TACCAGGTCAGTGGCATGAAT	0.463000													42	32					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102047678	102047678	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:102047678G>T	ENST00000251127.6	-	3	228	c.147C>A	c.(145-147)agC>agA	p.S49R	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.S49R|NALCN_ENST00000376196.3_Missense_Mutation_p.S49R	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	49						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)					CAGAAATGACGCTGATGATGG	0.423000													17	69					1.33834e-09	1.59719e-09	1	1	0
ZNF595	152687	broad.mit.edu	37	4	59419	59419	+	Silent	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:59419T>C	ENST00000509152.2	+	2	285	c.100T>C	c.(100-102)Ttg>Ctg	p.L34L	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.L34L					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGATGTGATGTTGGAGAACTA	0.433000													68	344					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10096670	10096670	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:10096670G>C	ENST00000380861.4	+	17	2745	c.2354G>C	c.(2353-2355)cGg>cCg	p.R785P	WWC3_ENST00000454666.1_Missense_Mutation_p.R785P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	785										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GCCGAGGAGCGGGCCAAGCTG	0.667000													4	53					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40590843	40590843	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:40590843T>A	ENST00000260402.3	-	10	1166	c.917A>T	c.(916-918)gAc>gTc	p.D306V	PLCB2_ENST00000456256.2_Missense_Mutation_p.D306V|PLCB2_ENST00000557821.1_Missense_Mutation_p.D306V	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	306					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAGCAGCTTGTCCTGGGCCAG	0.567000													25	31					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191845379	191845379	+	Silent	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:191845379G>C	ENST00000361099.3	-	19	1986	c.1599C>G	c.(1597-1599)ccC>ccG	p.P533P	STAT1_ENST00000392322.3_Silent_p.P533P|STAT1_ENST00000392323.2_Silent_p.P535P|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.P533P	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	533					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGAGACCATCGGGGCTGGCGT	0.433000													15	62					0	0	1	0	0
GPD1L	23171	broad.mit.edu	37	3	32188176	32188176	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:32188176A>G	ENST00000282541.5	+	5	769	c.568A>G	c.(568-570)Att>Gtt	p.I190V		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	190					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						AAATTTTCGAATTACCGTGGT	0.438000													40	71					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145011158	145011158	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:145011158G>C	ENST00000322810.4	-	5	1004	c.835C>G	c.(835-837)Ctg>Gtg	p.L279V	PLEC_ENST00000356346.3_Missense_Mutation_p.L128V|PLEC_ENST00000527096.1_Missense_Mutation_p.L169V|PLEC_ENST00000354589.3_Missense_Mutation_p.L142V|PLEC_ENST00000345136.3_Missense_Mutation_p.L142V|PLEC_ENST00000357649.2_Missense_Mutation_p.L146V|PLEC_ENST00000398774.2_Missense_Mutation_p.L110V|PLEC_ENST00000354958.2_Missense_Mutation_p.L120V|PLEC_ENST00000436759.2_Missense_Mutation_p.L169V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	279	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGAAGTGCAGAATGATTGTC	0.602000													18	66					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97045379	97045379	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:97045379G>T	ENST00000524981.3	+	3	239	c.239G>T	c.(238-240)cGt>cTt	p.R80L				Q6ZTY8	CL063_HUMAN		54										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTTGCTCATCGTGGTGGCTAT	0.378000													18	63					1.67942e-08	1.95857e-08	1	1	0
DQX1	165545	broad.mit.edu	37	2	74749770	74749770	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:74749770G>T	ENST00000404568.3	-	8	1651	c.1432C>A	c.(1432-1434)Ctg>Atg	p.L478M	DQX1_ENST00000393951.2_Missense_Mutation_p.L478M	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	478						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GAGGCCAGCAGGGCTTTGGCC	0.522000													147	89					2.38067e-61	3.9754e-61	1	1	0
MOB3A	126308	broad.mit.edu	37	19	2078215	2078215	+	Silent	SNP	C	C	G	rs141779492		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:2078215C>G	ENST00000357066.3	-	3	724	c.345G>C	c.(343-345)gcG>gcC	p.A115A	MOB3A_ENST00000592143.1_Intron|MOB3A_ENST00000592280.1_Silent_p.A115A	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN	MOB kinase activator 3A	115						intracellular	metal ion binding										TGTACCTGGGCGCGGAGAGTG	0.627000													19	12					0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	35996847	35996847	+	Silent	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:35996847G>A	ENST00000339686.3	-	8	1256	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	DMKN_ENST00000492341.2_Silent_p.F7F|DMKN_ENST00000461300.1_Silent_p.F7F|DMKN_ENST00000488892.1_Silent_p.F56F|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000392206.2_Silent_p.F73F|DMKN_ENST00000447113.2_Silent_p.F410F|DMKN_ENST00000602781.1_Silent_p.F73F|DMKN_ENST00000451297.2_Silent_p.F343F|DMKN_ENST00000429837.1_Silent_p.F319F|DMKN_ENST00000418261.1_Silent_p.F360F|DMKN_ENST00000419602.1_Silent_p.F349F|DMKN_ENST00000414866.2_Silent_p.F73F|DMKN_ENST00000467637.1_Silent_p.F85F|DMKN_ENST00000458071.1_Silent_p.F105F|DMKN_ENST00000424570.2_Silent_p.F372F|DMKN_ENST00000440396.1_Silent_p.F390F|DMKN_ENST00000480502.1_Silent_p.F73F|DMKN_ENST00000443640.1_Silent_p.F123F|DMKN_ENST00000402589.2_Silent_p.F73F|DMKN_ENST00000436012.1_Silent_p.F56F|DMKN_ENST00000474928.1_Silent_p.F7F|DMKN_ENST00000472252.2_Silent_p.F7F	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	360						extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCACCTTCCAGAAAGTGTCAA	0.507000													101	180					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110530423	110530423	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:110530423C>A	ENST00000378402.5	+	73	11821	c.11717C>A	c.(11716-11718)aCt>aAt	p.T3906N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3906					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGGATTCCACTGTCCTTGGT	0.363000										HNSCC(38;0.096)			5	15					0.184627	0.185695	1	1	0
OR4A15	81328	broad.mit.edu	37	11	55136172	55136172	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:55136172C>A	ENST00000314706.3	+	1	813	c.813C>A	c.(811-813)caC>caA	p.H271Q		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GTGCATCCCACGTCACTGTGG	0.413000													31	93					3.80469e-20	5.44422e-20	1	1	0
PABPC1	26986	broad.mit.edu	37	8	101721767	101721767	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:101721767C>T	ENST00000318607.5	-	8	2293	c.1165G>A	c.(1165-1167)Gta>Ata	p.V389I	PABPC1_ENST00000522387.1_Missense_Mutation_p.V357I|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.V344I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	389					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)			ACAGCTCGTACACTTGCCATT	0.498000													7	161					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724454	140724454	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:140724454C>A	ENST00000253812.6	+	1	854	c.854C>A	c.(853-855)cCt>cAt	p.P285H	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)			GATAAAATGCCTGGGAAAATC	0.423000													16	11					6.31663e-08	7.24995e-08	1	1	0
CRNKL1	51340	broad.mit.edu	37	20	20033150	20033150	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:20033150G>T	ENST00000377340.2	-	2	351	c.320C>A	c.(319-321)tCc>tAc	p.S107Y	CRNKL1_ENST00000377327.4_Missense_Mutation_p.S95Y	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	107					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AGCCGTGACGGAGGCGGCACC	0.612000													29	61					6.00712e-18	8.38876e-18	1	1	0
OR10G8	219869	broad.mit.edu	37	11	123901131	123901131	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:123901131G>T	ENST00000431524.1	+	1	835	c.802G>T	c.(802-804)Gat>Tat	p.D268Y		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		GAAAGCTGTGGATGGAGTTGT	0.527000													15	52					8.60227e-14	1.11868e-13	1	1	0
ALOXE3	59344	broad.mit.edu	37	17	8000008	8000008	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:8000008C>A	ENST00000380149.1	-	15	2571	c.2541G>T	c.(2539-2541)caG>caT	p.Q847H	ALOXE3_ENST00000318227.3_Missense_Mutation_p.Q823H|ALOXE3_ENST00000448843.2_Missense_Mutation_p.Q691H			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	691					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GTGCCAGACCCTGGTTCCGCT	0.602000													56	50					4.96213e-28	7.65435e-28	1	1	0
RNF144B	255488	broad.mit.edu	37	6	18457533	18457533	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:18457533G>T	ENST00000259939.3	+	5	796	c.479G>T	c.(478-480)tGg>tTg	p.W160L	RNF144B_ENST00000429054.2_Missense_Mutation_p.W71L	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	160					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AAGGATGCTTGGCATGCAGAG	0.512000													77	341					1.32003e-40	2.13463e-40	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22157544	22157544	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:22157544C>A	ENST00000374695.3	-	85	11681	c.11602G>T	c.(11602-11604)Gtg>Ttg	p.V3868L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3868	EGF-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAGACGCACACGTAGCTGCTG	0.632000													3	7					0.150653	0.152052	1	1	0
KRT40	125115	broad.mit.edu	37	17	39138655	39138655	+	Silent	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:39138655C>G	ENST00000377755.4	-	3	625	c.591G>C	c.(589-591)ggG>ggC	p.G197G	KRT40_ENST00000398486.2_Silent_p.G197G			Q6A162	K1C40_HUMAN	keratin 40	197	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CCTCCAGGATCCCATGCAGGC	0.488000													27	93					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785014	82785014	+	Missense_Mutation	SNP	G	G	C	rs61744447		TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:82785014G>C	ENST00000423517.2	-	2	1280	c.943C>G	c.(943-945)Cca>Gca	p.P315A	PCLO_ENST00000333891.8_Missense_Mutation_p.P315A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	305	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTGTGCTGGAGGTTTTCCA	0.527000													8	48					0	0	1	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657618	100657618	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:100657618G>A	ENST00000416321.1	-	2	213	c.211C>T	c.(211-213)Ctt>Ttt	p.L71F		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	71	DEP.				intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TGGGCCTGAAGAGAGTGAATA	0.368000													13	44					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64533601	64533601	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:64533601C>T	ENST00000377390.3	-	13	1946	c.1609G>A	c.(1609-1611)Ggc>Agc	p.G537S	SF1_ENST00000377394.3_Intron|SF1_ENST00000227503.9_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000334944.5_Missense_Mutation_p.G537S|SF1_ENST00000422298.2_Intron|SF1_ENST00000433274.2_Missense_Mutation_p.G511S	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	537	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GACCCTGTGCCAGCGCTCGTG	0.662000													11	55					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56471295	56471295	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:56471295C>A	ENST00000370754.5	-	39	8031	c.8032G>T	c.(8032-8034)Gtt>Ttt	p.V2678F	DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.V2500F|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.V2500F|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.V2500F|DST_ENST00000446842.2_Missense_Mutation_p.V2174F			Q03001	DYST_HUMAN	dystonin	2500					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTGAGCCAACAGGATTTAAA	0.368000													16	26					2.32078e-09	2.76208e-09	1	1	0
ABCC4	10257	broad.mit.edu	37	13	95735455	95735455	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:95735455G>C	ENST00000376887.4	-	21	2739	c.2625C>G	c.(2623-2625)ttC>ttG	p.F875L	ABCC4_ENST00000412704.1_Missense_Mutation_p.F828L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	875	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GAAGAAAAATGAAAATGATTC	0.453000													20	47					0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18584076	18584076	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:18584076A>G	ENST00000545289.1	-	3	354	c.104T>C	c.(103-105)cTg>cCg	p.L35P		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						CGTGAGGCGCAGAGCAGCCAC	0.483000													28	98					0	0	1	0	0
FOXP3	50943	broad.mit.edu	37	X	49111899	49111899	+	Silent	SNP	A	A	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:49111899A>C	ENST00000376207.4	-	8	994	c.807T>G	c.(805-807)gcT>gcG	p.A269A	FOXP3_ENST00000518685.1_Silent_p.A234A|FOXP3_ENST00000376197.1_Silent_p.A219A|FOXP3_ENST00000455775.2_Intron|FOXP3_ENST00000557224.1_Silent_p.A234A|FOXP3_ENST00000376199.2_Silent_p.A234A	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	269					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein 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 corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CCACAGATGAAGCCTTGGTCA	0.592000													7	20					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50764741	50764741	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:50764741C>T	ENST00000440075.2	+	21	2481	c.2434C>T	c.(2434-2436)Ctg>Ttg	p.L812L	MYH14_ENST00000596571.1_Silent_p.L771L|MYH14_ENST00000262269.8_Silent_p.L812L|MYH14_ENST00000598205.1_Silent_p.L779L|MYH14_ENST00000376970.2_Silent_p.L804L|MYH14_ENST00000425460.1_Silent_p.L779L|MYH14_ENST00000601313.1_Silent_p.L812L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	771	IQ.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GATCCAGGCGCTGGAACTGGA	0.657000													19	53					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224463277	224463277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:224463277C>A	ENST00000305409.2	-	2	956	c.724G>T	c.(724-726)Gaa>Taa	p.E242*		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	242					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)		ACCACATCTTCATAGGCAATG	0.423000													101	185					7.036e-43	1.14847e-42	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7662881	7662881	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr17:7662881C>G	ENST00000572933.1	+	16	4050	c.2590C>G	c.(2590-2592)Caa>Gaa	p.Q864E	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q864E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	864	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCACTCTTCCAAGTCCTTGT	0.478000													45	35					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107420137	107420137	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:107420137C>A	ENST00000334504.7	-	28	2853	c.2620G>T	c.(2620-2622)Gta>Tta	p.V874L	COL4A6_ENST00000372216.4_Missense_Mutation_p.V875L|COL4A6_ENST00000545689.1_Missense_Mutation_p.V874L|COL4A6_ENST00000538570.1_Missense_Mutation_p.V874L|COL4A6_ENST00000394872.2_Missense_Mutation_p.V875L	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	875	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTCAGTCCTACTAGGCCTGGA	0.532000									Alport syndrome with Diffuse Leiomyomatosis				45	157					3.77016e-25	5.665e-25	1	1	0
MEGF6	1953	broad.mit.edu	37	1	3409263	3409263	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:3409263C>G	ENST00000356575.4	-	35	4682	c.4456G>C	c.(4456-4458)Gac>Cac	p.D1486H	MEGF6_ENST00000294599.4_Missense_Mutation_p.D1174H	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1486	EGF-like 27.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CTGACAGGGTCGCAGTCAGCC	0.662000													14	60					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219296825	219296825	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:219296825C>T	ENST00000248444.5	+	12	1348	c.1260C>T	c.(1258-1260)caC>caT	p.H420H	VIL1_ENST00000392114.2_Silent_p.H109H	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	420	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTAGGCCACTTCTATGGGG	0.592000													14	48					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197431446	197431446	+	Missense_Mutation	SNP	C	C	A	rs115638090	by1000genomes	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:197431446C>A	ENST00000273582.5	-	4	795	c.250G>T	c.(250-252)Ggg>Tgg	p.G84W	KIAA0226_ENST00000449205.1_Missense_Mutation_p.G144W|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000389665.5_Missense_Mutation_p.G144W|KIAA0226_ENST00000296343.5_Missense_Mutation_p.G144W	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	144	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGTCTATCCCCGAGCAGGGGC	0.562000													38	175					1.49673e-21	2.17026e-21	1	1	0
PRSS35	167681	broad.mit.edu	37	6	84233832	84233832	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:84233832G>T	ENST00000536636.1	+	3	1017	c.672G>T	c.(670-672)cgG>cgT	p.R224R	PRSS35_ENST00000369700.3_Silent_p.R224R	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	224	Peptidase S1.		R -> Q (in dbSNP:rs504593).		proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AGCATCTGCGGGAGAGAGCGA	0.537000													15	49					3.52763e-06	3.86529e-06	1	1	0
TBRG4	9238	broad.mit.edu	37	7	45148617	45148617	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:45148617G>T	ENST00000258770.3	-	2	341	c.220C>A	c.(220-222)Cac>Aac	p.H74N	TBRG4_ENST00000494076.1_Missense_Mutation_p.H74N|TBRG4_ENST00000395655.4_Missense_Mutation_p.H74N|TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000361278.3_Missense_Mutation_p.H74N	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	74					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						TTGATGAGGTGGTCCACCTGC	0.552000													26	61					2.50493e-22	3.68123e-22	1	1	0
TSIX	9383	broad.mit.edu	37	X	73042795	73042795	+	RNA	SNP	A	A	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:73042795A>G	ENST00000604411.1	+	0	30756				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TAAATGAGATAAAGTGCACTT	0.308000													32	35					0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360736	27360736	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:27360736G>T	ENST00000335524.3	-	3	987	c.462C>A	c.(460-462)agC>agA	p.S154R		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	154	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGTGTGGAGCTATGCAGTT	0.617000													54	30					1.78197e-24	2.66835e-24	1	1	0
TRBV6-9	28598	broad.mit.edu	37	7	142104275	142104275	+	RNA	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:142104275G>T	ENST00000390379.1	-	0	189																											TAATGAATGCGCCTCAGCCCC	0.512000													106	82					3.21225e-43	5.26301e-43	1	1	0
SCAF4	57466	broad.mit.edu	37	21	33064723	33064723	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr21:33064723C>G	ENST00000286835.7	-	13	1935	c.1553G>C	c.(1552-1554)aGa>aCa	p.R518T	SCAF4_ENST00000434667.3_Missense_Mutation_p.R503T|SCAF4_ENST00000399804.1_Missense_Mutation_p.R518T	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	518	RRM.					nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTGAGTAGTTCTTTTGTCCAG	0.383000													4	79					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87036767	87036767	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:87036767G>C	ENST00000370563.3	+	8	1232	c.1190G>C	c.(1189-1191)gGa>gCa	p.G397A	CLCA4_ENST00000263723.5_Missense_Mutation_p.G110A	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	397	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAGGTGATTGGAGAGCTACAT	0.403000													31	171					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950735	198950735	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:198950735G>C	ENST00000428675.1	+	2	2892	c.2494G>C	c.(2494-2496)Gtg>Ctg	p.V832L	PLCL1_ENST00000437704.2_Missense_Mutation_p.V734L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	832					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)	GCGTTCTTTTGTGGGTGACAT	0.448000													10	65					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783429	54783429	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:54783429C>A	ENST00000391748.1	-	5	556	c.429G>T	c.(427-429)caG>caT	p.Q143H	LILRB2_ENST00000391746.1_Missense_Mutation_p.Q143H|LILRB2_ENST00000391749.4_Missense_Mutation_p.Q143H|LILRB2_ENST00000434421.1_Missense_Mutation_p.Q27H|LILRB2_ENST00000314446.5_Missense_Mutation_p.Q143H	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	143	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGACTCACACTGGAGGGTCA	0.582000													60	56					2.44918e-20	3.52197e-20	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49428009	49428009	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:49428009C>A	ENST00000301067.7	-	38	10580	c.10581G>T	c.(10579-10581)gtG>gtT	p.V3527V		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCTCCTCTAGCACCTTCAGCT	0.562000													32	175					5.44703e-19	7.69304e-19	1	1	0
TTN	7273	broad.mit.edu	37	2	179467077	179467077	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:179467077G>T	ENST00000589042.1	-	283	55276	c.55052C>A	c.(55051-55053)gCt>gAt	p.A18351D	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A16710D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9411D|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A9286D|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A15783D|TTN_ENST00000342175.6_Missense_Mutation_p.A9478D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16710	Fibronectin type-III 33.						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)			TTCATTGACAGCTTTCACTCT	0.413000													18	81					5.35267e-07	6.03215e-07	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34383835	34383835	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:34383835C>A	ENST00000373381.4	-	5	956	c.780G>T	c.(778-780)tcG>tcT	p.S260S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	220	CUB 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)				TATGGTACTCCGAGGGGAAGT	0.582000													16	46					1.45105e-14	1.91275e-14	1	1	0
GCM2	9247	broad.mit.edu	37	6	10874263	10874263	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:10874263C>A	ENST00000379491.4	-	5	1633	c.1486G>T	c.(1486-1488)Ggt>Tgt	p.G496C	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	496					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	p.G496S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AAGAAGGGACCCACTCTGTCT	0.502000													26	48					6.07407e-21	8.76359e-21	1	1	0
EIF3F	8665	broad.mit.edu	37	11	8013694	8013694	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:8013694G>T	ENST00000533626.1	+	5	1125	c.499G>T	c.(499-501)Gag>Tag	p.E167*	EIF3F_ENST00000537635.1_Nonsense_Mutation_p.E182*|EIF3F_ENST00000449102.2_Nonsense_Mutation_p.E18*|EIF3F_ENST00000309828.4_Nonsense_Mutation_p.E167*			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	167	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTCCAAATGAGCTCATCCT	0.468000													4	32					2.56e-06	2.81568e-06	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32631446	32631446	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:32631446C>G	ENST00000242310.4	-	1	4221	c.4132G>C	c.(4132-4134)Gga>Cga	p.G1378R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1378					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)		ACAGTGGTTCCAACTCGCCGT	0.468000													127	78					0	0	1	0	0
TAS2R13	50838	broad.mit.edu	37	12	11060986	11060986	+	Nonstop_Mutation	SNP	T	T	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:11060986T>C	ENST00000390677.2	-	1	1175	c.912A>G	c.(910-912)tgA>tgG	p.*304W	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	0					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGTGAGTTTCTCATCGTTTAG	0.398000													33	72					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149578850	149578850	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:149578850G>T	ENST00000230671.2	+	5	1015	c.644G>T	c.(643-645)tGg>tTg	p.W215L	SLC6A7_ENST00000524041.1_Missense_Mutation_p.W215L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	215						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GAGATCCGCTGGAACCTCTGC	0.637000													46	35					3.77016e-25	5.665e-25	1	1	0
OR51I1	390063	broad.mit.edu	37	11	5462625	5462625	+	Silent	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr11:5462625G>T	ENST00000380211.1	-	1	119	c.120C>A	c.(118-120)tcC>tcA	p.S40S	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCTACAATGGAGATCATGT	0.522000													37	91					8.73648e-17	1.19885e-16	1	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140782543	140782543	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:140782543G>T	ENST00000573521.1	+	1	24	c.24G>T	c.(22-24)caG>caT	p.Q8H	PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAATGCCAGCTCCGCGGAA	0.537000													14	14					1.49906e-05	1.62212e-05	1	1	0
KLF12	11278	broad.mit.edu	37	13	74419981	74419981	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr13:74419981C>A	ENST00000377669.2	-	3	679	c.653G>T	c.(652-654)gGg>gTg	p.G218V	KLF12_ENST00000377666.4_Missense_Mutation_p.G218V|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	218					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		ATGGCCTCTCCCATCCTCCAA	0.458000													17	75					1.00905e-13	1.3083e-13	1	1	0
MID1	4281	broad.mit.edu	37	X	10535195	10535195	+	Silent	SNP	C	C	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:10535195C>T	ENST00000317552.4	-	2	793	c.393G>A	c.(391-393)gtG>gtA	p.V131V	MID1_ENST00000380785.1_Silent_p.V131V|MID1_ENST00000380787.1_Silent_p.V131V|MID1_ENST00000453318.2_Silent_p.V131V|MID1_ENST00000380779.1_Silent_p.V131V|MID1_ENST00000380780.1_Silent_p.V131V|MID1_ENST00000380782.2_Silent_p.V131V	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	131					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CACAGGTCTTCACAGCGTCCT	0.567000													22	64					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35095469	35095469	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr9:35095469G>A	ENST00000378617.3	-	2	488	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	PIGO_ENST00000298004.5_Missense_Mutation_p.R32C|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000341666.3_Missense_Mutation_p.R32C|PIGO_ENST00000361778.2_Missense_Mutation_p.R32C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	32					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGCTCCAAACGGGTGAGCAGG	0.607000													4	23					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131325793	131325793	+	Splice_Site	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:131325793C>A	ENST00000379264.2	-	4	558	c.450_splice	c.e4+1	p.E150_splice	ACSL6_ENST00000379249.3_Splice_Site_p.E125_splice|ACSL6_ENST00000379244.1_Splice_Site_p.E125_splice|ACSL6_ENST00000543479.1_Splice_Site_p.E125_splice|ACSL6_ENST00000379246.1_Splice_Site_p.E136_splice|ACSL6_ENST00000296869.4_Splice_Site_p.E150_splice|ACSL6_ENST00000379272.2_Splice_Site_p.E125_splice|ACSL6_ENST00000379240.1_Splice_Site_p.E125_splice|ACSL6_ENST00000357096.1_Splice_Site_p.E90_splice|ACSL6_ENST00000544770.1_Splice_Site_p.E34_splice|ACSL6_ENST00000431707.1_Splice_Site_p.E90_splice|ACSL6_ENST00000379255.1_Splice_Site_p.E90_splice	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	125					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATCACTCACCTCCTGGTAGG	0.582000													13	13					0.00010058	0.00010803	1	1	0
ZNF354A	6940	broad.mit.edu	37	5	178139416	178139416	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:178139416T>A	ENST00000335815.2	-	5	1660	c.1463A>T	c.(1462-1464)cAt>cTt	p.H488L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	488					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TTCTCCAGTATGCATTCTCTG	0.388000													51	85					0	0	1	0	0
HOXA11	3207	broad.mit.edu	37	7	27224662	27224662	+	Silent	SNP	C	C	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:27224662C>A	ENST00000006015.3	-	1	173	c.102G>T	c.(100-102)ctG>ctT	p.L34L	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	34					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GGGTCTGGGGCAGAAAAGAAG	0.542000			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	56	63					1.4709e-25	2.22167e-25	1	1	0
SYCP1	6847	broad.mit.edu	37	1	115520223	115520224	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:115520223_115520224insA	ENST00000369522.3	+	28	2608_2609	c.2368_2369insA	c.(2368-2370)aaafs	p.K790fs	SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K790fs|SYCP1_ENST00000477590.1_3'UTR	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	790					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTAAAGAAAAAAAAGAC	0.252													3	6	---	---	---	---					
SOAT1	6646	broad.mit.edu	37	1	179320525	179320526	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr1:179320525_179320526insT	ENST00000367619.3	+	15	1667_1668	c.1524_1525insT	c.(1522-1527)tttgggfs	p.G509fs	SOAT1_ENST00000540564.1_Frame_Shift_Ins_p.G451fs|SOAT1_ENST00000535686.1_Frame_Shift_Ins_p.G245fs|SOAT1_ENST00000539888.1_Frame_Shift_Ins_p.G444fs	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	509					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTCTCTTTTCTTGGGCAATGG	0.406													35	176	---	---	---	---					
WDR75	84128	broad.mit.edu	37	2	190334847	190334848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr2:190334847_190334848insG	ENST00000314761.4	+	17	1925_1926	c.1865_1866insG	c.(1864-1866)aggfs	p.R622fs		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	622						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TATATTCAAAAGGGTATCTCCA	0.411													54	193	---	---	---	---					
COL6A6	131873	broad.mit.edu	37	3	130290070	130290070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:130290070delG	ENST00000358511.6	+	6	2841	c.2810delG	c.(2809-2811)cgfs	p.R937fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.R937fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	937	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen		p.R937P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAGGCCTTGCGGGACAAAGGC	0.557													17	159	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)del	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													8	229	---	---	---	---					
ATP10D	57205	broad.mit.edu	37	4	47548762	47548762	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:47548762delT	ENST00000273859.3	+	10	1787	c.1518delT	c.(1516-1518)aafs	p.N506fs	ATP10D_ENST00000504445.1_Frame_Shift_Del_p.N491fs	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	506					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAGTTCATAATGGGCCTTTGG	0.488													12	107	---	---	---	---					
FAM177A1P1	728710	broad.mit.edu	37	4	99877411	99877413	+	RNA	DEL	GAG	GAG	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr4:99877411_99877413delGAG	ENST00000583654.1	+	0	237																											ATTACCAACAgaggaggaggagg	0.478													2	4	---	---	---	---					
MEGF10	84466	broad.mit.edu	37	5	126753451	126753451	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:126753451delG	ENST00000274473.6	+	11	1519	c.1252delG	c.(1252-1254)ggfs	p.G418fs	MEGF10_ENST00000503335.2_Frame_Shift_Del_p.G418fs|MEGF10_ENST00000508365.1_Frame_Shift_Del_p.G418fs|MEGF10_ENST00000418761.2_Frame_Shift_Del_p.G418fs	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	418	EGF-like 7.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				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)		CTGCCAAAATGGGGCAGACTG	0.552													43	39	---	---	---	---					
BNIP1	662	broad.mit.edu	37	5	172578611	172578611	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr5:172578611delT	ENST00000231668.9	+	3	324	c.220delT	c.(220-222)ttfs	p.F76fs	BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	59					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCCACATTTTTTTTTAA	0.348													7	61	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGC			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr6:16327864_16327865insTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCA	c.(676-678)cct>cGCAct	p.226_226P>RT	ATXN1_ENST00000436367.1_In_Frame_Ins_p.226_226P>RT	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	226					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653													5	8	---	---	---	---					
CACNA2D1	781	broad.mit.edu	37	7	81612644	81612644	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:81612644delT	ENST00000356860.3	-	23	2218	c.1880delA	c.(1879-1881)agfs	p.K627fs	CACNA2D1_ENST00000356253.5_Intron	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	644						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)	CATTTTGCCCTTTTTTGCTGT	0.338													15	31	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													10	5	---	---	---	---					
COL22A1	169044	broad.mit.edu	37	8	139736886	139736886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr8:139736886delG	ENST00000303045.6	-	25	2665	c.2219delC	c.(2218-2220)cgfs	p.P740fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.P740fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	740	Collagen-like 5.|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)			AGGCTTTCCCGGGAAGCCGAT	0.592										HNSCC(7;0.00092)			25	29	---	---	---	---					
ITIH5	80760	broad.mit.edu	37	10	7679399	7679399	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr10:7679399delG	ENST00000256861.6	-	5	522	c.444delC	c.(442-444)ccfs	p.P148fs	ITIH5_ENST00000397145.2_Frame_Shift_Del_p.P148fs|ITIH5_ENST00000397146.2_Frame_Shift_Del_p.P148fs|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	148	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGTCCTTGCTGGGAATCACTG	0.547													24	48	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49435155	49435156	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:49435155_49435156delGC	ENST00000301067.7	-	31	6396_6397	c.6397_6398delGC	c.(6397-6399)cfs	p.A2133fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGACAAGCCGGCGGGGGTAGTG	0.703													7	21	---	---	---	---					
DHX37	57647	broad.mit.edu	37	12	125457122	125457124	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr12:125457122_125457124delTAC	ENST00000308736.2	-	7	1100_1102	c.1002_1004delGTA	c.(1000-1005)cgt>cg	p.RY334del	DHX37_ENST00000544745.1_In_Frame_Del_p.RY121del	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	334	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GTTTCCTTCATACCGGATCTGGT	0.571													43	124	---	---	---	---					
POTEG	404785	broad.mit.edu	37	14	19553599	19553599	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:19553599delG	ENST00000409832.3	+	1	235	c.183delG	c.(181-183)atfs	p.M61fs		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	61										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGAGCAAGATGGGCAAGTGGT	0.607													32	959	---	---	---	---					
POTEM	641455	broad.mit.edu	37	14	20020036	20020036	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:20020036delC	ENST00000551509.1	-	1	236	c.185delG	c.(184-186)gcfs	p.G62fs		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	62										endometrium(4)|kidney(1)|lung(4)	9						GCACCACTTGCCCATCTTGCT	0.607													21	696	---	---	---	---					
MYH7	4625	broad.mit.edu	37	14	23900974	23900974	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:23900974delC	ENST00000355349.3	-	7	797	c.635delG	c.(634-636)gcfs	p.G212fs		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	212	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTACCTTGCCCGGGCTCTG	0.597													17	91	---	---	---	---					
RP11-305B6.3	0	broad.mit.edu	37	14	44589862	44589862	+	RNA	DEL	C	C	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:44589862delC	ENST00000553827.1	-	0	69																											TTTTTCTCTTCATTACCCAAG	0.458													24	56	---	---	---	---					
KIAA1737	85457	broad.mit.edu	37	14	77580630	77580630	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:77580630delT	ENST00000361786.2	+	4	1486	c.1169delT	c.(1168-1170)cafs	p.L390fs	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	390										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GGCAGTGACCTAGAAGCATTC	0.488													55	75	---	---	---	---					
CEP128	145508	broad.mit.edu	37	14	81209601	81209601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr14:81209601delT	ENST00000555265.1	-	19	2999	c.2624delA	c.(2623-2625)cgfs	p.Q875fs	CEP128_ENST00000281129.3_Frame_Shift_Del_p.Q875fs			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	875						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						ACAGAGCCACTGAAGTTTAGT	0.338													16	36	---	---	---	---					
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)cta>ct	p.LL16del	EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		ATCCCCCGATAGCAGCAGCAGCA	0.665													8	250	---	---	---	---					
CGNL1	84952	broad.mit.edu	37	15	57835951	57835962	+	In_Frame_Del	DEL	TGCGACAAGATT	TGCGACAAGATT	-	rs140027709	byFrequency	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr15:57835951_57835962delTGCGACAAGATT	ENST00000281282.5	+	15	3427_3438	c.3349_3360delTGCGACAAGATT	c.(3349-3360)del	p.CDKI1117del		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1117						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGACTTGGAGTGCGACAAGATTTCCCTGGAGA	0.552													8	84	---	---	---	---					
CLEC18B	497190	broad.mit.edu	37	16	74446941	74446942	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr16:74446941_74446942insC	ENST00000339953.5	-	5	790_791	c.669_670insG	c.(667-672)ggtctgfs	p.L224fs		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	224						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCACCACAGAGCCCCCCTGCAT	0.609													7	176	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20369183	20369183	+	RNA	DEL	G	G	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:20369183delG	ENST00000593655.1	-	0	199																											CCACCAAAGTGGGAAACATTG	0.418													27	33	---	---	---	---					
ZNF382	84911	broad.mit.edu	37	19	37117541	37117559	+	Frame_Shift_Del	DEL	GCCTTCATAGAAAAGTCAA	GCCTTCATAGAAAAGTCAA	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:37117541_37117559delGCCTTCATAGAAAAGTCAA	ENST00000435416.1	+	3	2234_2252	c.739_757delGCCTTCATAGAAAAGTCAA	c.(739-759)gcfs	p.AFIEKSS247fs	ZNF382_ENST00000439428.1_Frame_Shift_Del_p.AFIEKSS247fs|ZNF382_ENST00000423582.1_Frame_Shift_Del_p.AFIEKSS199fs|ZNF382_ENST00000292928.2_Frame_Shift_Del_p.AFIEKSS248fs			Q96SR6	ZN382_HUMAN	zinc finger protein 382	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A248A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGATGGAATTGCCTTCATAGAAAAGTCAAGCCTCAGTGT	0.374													8	139	---	---	---	---					
TMEM150B	284417	broad.mit.edu	37	19	55832392	55832392	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr19:55832392delG	ENST00000326652.4	-	3	195	c.13delC	c.(13-15)tgfs	p.L5fs	TMEM150B_ENST00000438693.1_Frame_Shift_Del_p.L5fs			A6NC51	T150B_HUMAN	transmembrane protein 150B	5						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						ATCAGCGACAGGTAGCCCCAC	0.612													13	27	---	---	---	---					
WFDC12	128488	broad.mit.edu	37	20	43752495	43752508	+	Frame_Shift_Del	DEL	GAGGACACCTGGTA	GAGGACACCTGGTA	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:43752495_43752508delGAGGACACCTGGTA	ENST00000372785.3	-	3	332_345	c.315_328delTACCAGGTGTCCTC	c.(313-330)tcagfs	p.STRCPQ105fs		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	105					defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				CATCATTTCTGAGGACACCTGGTAGAGGAggagc	0.528													11	68	---	---	---	---					
RTEL1	51750	broad.mit.edu	37	20	62292822	62292824	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr20:62292822_62292824delGCT	ENST00000318100.4	+	3	1101_1103	c.274_276delGCT	c.(274-276)del	p.A96del	RTEL1_ENST00000370018.3_In_Frame_Del_p.A96del|RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_In_Frame_Del_p.A96del|RTEL1_ENST00000360203.5_In_Frame_Del_p.A96del|RTEL1_ENST00000508582.2_In_Frame_Del_p.A96del			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	96	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CTGGGGCAACGCTGCTGCTGCTG	0.645													8	45	---	---	---	---					
POTEH	23784	broad.mit.edu	37	22	16279199	16279200	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:16279199_16279200insA	ENST00000343518.6	-	4	1074_1075	c.1023_1024insT	c.(1021-1026)tagaagfs	p.*K341fs		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	341										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTATACCTTCCATATCTATCCA	0.317													15	310	---	---	---	---					
PRAMENP	649179	broad.mit.edu	37	22	22393464	22393464	+	RNA	DEL	G	G	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chr22:22393464delG	ENST00000411554.1	+	0	151				PRAMEF24P_ENST00000337471.4_RNA																							TCTTTATCTTGGCACACAAGC	0.507													2	4	---	---	---	---					
MAGEB4	4115	broad.mit.edu	37	X	30261263	30261264	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:30261263_30261264delCA	ENST00000378982.2	+	1	1207_1208	c.1011_1012delCA	c.(1009-1014)gccafs	p.AT337fs		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	337										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						ATTCCAGGGCCACATCCAGTAG	0.505													9	66	---	---	---	---					
MAGEB1	4112	broad.mit.edu	37	X	30268746	30268746	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:30268746delG	ENST00000378981.3	+	4	457	c.136delG	c.(136-138)ggfs	p.G46fs	MAGEB1_ENST00000397548.2_Frame_Shift_Del_p.G46fs|MAGEB1_ENST00000397550.1_Frame_Shift_Del_p.G46fs	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	46										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						TCCTGTTTTAGGGGATACTCC	0.602													12	32	---	---	---	---					
SLC35A2	7355	broad.mit.edu	37	X	48768865	48768865	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:48768865delC	ENST00000376521.1	-	1	370	c.49delG	c.(49-51)cgfs	p.A17fs	SLC35A2_ENST00000376529.3_Frame_Shift_Del_p.A17fs|SLC35A2_ENST00000376512.1_Frame_Shift_Del_p.A17fs|SLC35A2_ENST00000413561.2_Frame_Shift_Del_p.A17fs|SLC35A2_ENST00000247138.5_Frame_Shift_Del_p.A17fs|SLC35A2_ENST00000445167.2_Frame_Shift_Del_p.A17fs|SLC35A2_ENST00000452555.2_Frame_Shift_Del_p.A17fs|SLC35A2_ENST00000376515.3_Intron	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	17					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GCGGAAACCGCCCCTGGCCCG	0.701													2	4	---	---	---	---					
KANTR	102723508	broad.mit.edu	37	X	53142508	53142509	+	RNA	INS	-	-	A	rs145002653	by1000genomes	TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:53142508_53142509insA	ENST00000604849.1	+	0	96																											AACACACACACAAAAAAAAACC	0.356													5	7	---	---	---	---					
PCDH11X	27328	broad.mit.edu	37	X	91642799	91642799	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7995-01A-11D-2184-08	TCGA-55-7995-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a28614-2530-40a8-85b4-47349add8c3a	10279839-3c4e-49bf-b987-438f105c83c3	g.chrX:91642799delG	ENST00000373094.1	+	5	4055	c.3210delG	c.(3208-3210)ctfs	p.L1070fs	PCDH11X_ENST00000373097.1_Frame_Shift_Del_p.L1060fs|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000361655.2_Frame_Shift_Del_p.L1060fs|PCDH11X_ENST00000373088.1_Frame_Shift_Del_p.L1033fs|PCDH11X_ENST00000298274.8_Frame_Shift_Del_p.L1033fs|PCDH11X_ENST00000406881.1_Frame_Shift_Del_p.L1070fs	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1070					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						ATGGTGGACTGGGAGACCATG	0.532													91	103	---	---	---	---