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
RNF214	257160	broad.mit.edu	37	11	117109673	117109673	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:117109673C>A	uc001pqt.3	+	2	509	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	RNF214_uc001pqu.3_Missense_Mutation_p.P155Q|RNF214_uc010rxf.2_Intron	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	155							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	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;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GAGAAATCCCCACAAACCTCC	0.522000													6	71					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42839793	42839793	+	Silent	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:42839793C>T	uc010gor.3	-	12	1507	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L	TMPRSS2_uc002yzj.3_Silent_p.L445L|TMPRSS2_uc010gos.1_Silent_p.L445L|TMPRSS2_uc021wjn.1_5'Flank	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	445	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TCGAAGTGACCAGAGGCCCTC	0.532000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								8	78					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59494582	59494582	+	Silent	SNP	C	C	A	rs142116200	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:59494582C>A	uc002aga.3	-	15	2013	c.1641G>T	c.(1639-1641)ccG>ccT	p.P547P		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	547	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GCAGATTTTCCGGAAATAAAG	0.408000													5	145					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1642285	1642285	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:1642285C>A	uc002cmb.3	-	5	888	c.526G>T	c.(526-528)Ggt>Tgt	p.G176C		NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	176								p.S175S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCTCATCACCGCTCACAGCT	0.527000													9	157					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323130	31323130	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:31323130C>A	uc003jhe.2	+	11	2448	c.2088C>A	c.(2086-2088)gcC>gcA	p.A696A		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	696					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.E695K(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						TGCCCGAAGCCCTTTTCCTAC	0.522000													9	60					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141777643	141777643	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:141777643C>A	uc002tvj.1	-	11	2790	c.1818G>T	c.(1816-1818)gtG>gtT	p.V606V	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	606					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)		CAATCCAGTCCACAGCAATGC	0.363000										TSP Lung(27;0.18)			6	131					0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91524744	91524744	+	Silent	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:91524744T>C	uc002bqm.3	-	4	814	c.657A>G	c.(655-657)caA>caG	p.Q219Q	PRC1_uc002bqn.3_Silent_p.Q219Q|PRC1_uc002bqo.3_Silent_p.Q219Q|PRC1_uc010uqs.2_Silent_p.Q178Q|PRC1_uc010uqt.1_Silent_p.Q167Q	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	219	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGCAACTTTTGTAGTGTTG	0.408000													4	57					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34077961	34077961	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:34077961C>A	uc001zhi.3	+	65	9437	c.9367C>A	c.(9367-9369)Cgg>Agg	p.R3123R	RYR3_uc010bar.3_Silent_p.R3123R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3123					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)		GTCAGGGGCCCGGTACACAGA	0.582000													8	122					0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37503144	37503144	+	Missense_Mutation	SNP	C	C	A	rs145132632		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:37503144C>A	uc003zzz.1	+	10	1679	c.1391C>A	c.(1390-1392)cCg>cAg	p.P464Q	POLR1E_uc003zzy.1_Missense_Mutation_p.P402Q|POLR1E_uc011lqk.1_Missense_Mutation_p.P331Q|BC014180_uc004aaa.3_5'Flank	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	Homo sapiens polymerase (RNA) I polypeptide E, 53kDa (POLR1E), mRNA.	464					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CTGTCCCTCCCGCTGCCTCCA	0.577000													5	89					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141726970	141726970	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:141726970C>A	uc003vwy.3	+	8	1092	c.1038C>A	c.(1036-1038)ctC>ctA	p.L346L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	346	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGGCATTCTCGACTTCTATG	0.403000													8	216					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839624	62839624	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:62839624C>A	uc002yii.3	+	6	1439	c.1075C>A	c.(1075-1077)Cgg>Agg	p.R359R	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	359					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R359W(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACCCACTCCCGGAAGTCAAC	0.602000													5	89					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35800722	35800722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:35800722C>A	uc003zyd.3	+	5	1235	c.1235C>A	c.(1234-1236)tCg>tAg	p.S412*	NPR2_uc010mlb.3_Nonsense_Mutation_p.S412*	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	412					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GCCCACTACTCGGGAGCTGAG	0.617000													4	50					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774677	122774677	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:122774677C>A	uc001pym.3	+	2	686	c.389C>A	c.(388-390)cCg>cAg	p.P130Q	C11orf63_uc001pyl.1_Missense_Mutation_p.P130Q	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	130								p.P130P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CGCTATGACCCGAACTGGAAG	0.478000													8	296					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47467971	47467971	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:47467971C>A	uc003tnw.3	-	8	686	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	TNS3_uc010kyo.1_Missense_Mutation_p.G110W	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	110	Phosphatase tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGTCCTTTCCCGCCCTGCAGG	0.458000													4	69					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11889289	11889289	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:11889289C>A	uc001ate.4	+	12	1271	c.1158C>A	c.(1156-1158)acC>acA	p.T386T	CLCN6_uc009vnh.1_Missense_Mutation_p.R331S|CLCN6_uc010oat.2_Silent_p.T102T|CLCN6_uc010oau.2_Silent_p.T364T	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	386					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTAACCACCGTGGTGGTGT	0.498000													6	212					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70965065	70965065	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:70965065C>A	uc003pfg.4	-	21	1691	c.1532G>T	c.(1531-1533)gGa>gTa	p.G511V	COL9A1_uc003pfe.4_Missense_Mutation_p.G84V|COL9A1_uc003pff.4_Missense_Mutation_p.G268V	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	511	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACCTGCTTCTCCTGGAGGTCC	0.363000													6	134					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24573645	24573645	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:24573645C>A	uc002zzi.1	+	35	6506	c.6379C>A	c.(6379-6381)Cgc>Agc	p.R2127S	CABIN1_uc021wnc.1_Missense_Mutation_p.R2077S|CABIN1_uc002zzj.1_Missense_Mutation_p.R2048S|CABIN1_uc002zzl.2_Missense_Mutation_p.R2127S|CABIN1_uc010gul.1_Missense_Mutation_p.R65S	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	2127	Required for interaction with calcineurin (By similarity).				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						GGCTAAGTCCCGCCCCCTGCC	0.687000													4	63					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128635247	128635247	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:128635247G>T	uc003ifk.2	+	15	2820	c.2717_splice	c.e15+1	p.G906_splice	INTU_uc011cgq.2_Splice_Site	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	906										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTGGGTAGTAGGGTAAGTGAG	0.338000													5	62					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168431490	168431490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:168431490G>T	uc003qwk.1	+	2	392	c.130G>T	c.(130-132)Gga>Tga	p.G44*	KIF25_uc003qwl.1_Nonsense_Mutation_p.G44*	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	44	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CGCGGTCTTTGGAGATGTGTG	0.428000													6	129					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16467045	16467045	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:16467045G>A	uc021trd.1	-	3	1214	c.596C>T	c.(595-597)aCg>aTg	p.T199M	ZNF287_uc002gqi.2_Missense_Mutation_p.T199M	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	192	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GTTCTGTAACGTCACAGTCTT	0.458000													23	58					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625421	140625421	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140625421G>T	uc003lje.3	+	0	275	c.275G>T	c.(274-276)cGg>cTg	p.R92L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	92	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCTGGACCGGGAGAAGCTG	0.493000													5	96					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115980454	115980454	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:115980454C>A	uc001lbg.1	+	18	2775	c.2622C>A	c.(2620-2622)acC>acA	p.T874T	TDRD1_uc001lbf.3_Silent_p.T751T|TDRD1_uc001lbh.1_Silent_p.T865T|TDRD1_uc001lbi.1_Silent_p.T865T|TDRD1_uc010qsc.2_Silent_p.T478T|TDRD1_uc001lbj.3_Silent_p.T583T	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	874					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTGAACTCACCGATCTCTCCA	0.393000													4	65					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176523317	176523317	+	Silent	SNP	C	C	A	rs142153253		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:176523317C>A	uc003mfl.3	+	14	2141	c.1974C>A	c.(1972-1974)ccC>ccA	p.P658P	FGFR4_uc003mfm.3_Silent_p.P658P|FGFR4_uc011dfu.2_Silent_p.P590P|FGFR4_uc003mfo.3_Silent_p.P618P	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	658	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GGATGGCGCCCGAGGCCTTGT	0.657000										TSP Lung(9;0.080)			5	89					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628246	29628246	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:29628246C>A	uc010ztl.1	+	2	190	c.158C>A	c.(157-159)gCc>gAc	p.A53D	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5D					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCTTTGTTGGCCTCAAATAGC	0.353000													6	99					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329418	152329418	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:152329418A>T	uc001ezw.4	-	2	917	c.844T>A	c.(844-846)Tat>Aat	p.Y282N	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	282	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATTGCTATAACCACATGCA	0.428000													33	157					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071267	70071267	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:70071267G>A	uc010kak.3	+	27	4378	c.4102G>A	c.(4102-4104)Gca>Aca	p.A1368T	BAI3_uc003pev.4_Missense_Mutation_p.A1368T|BAI3_uc011dxx.2_Missense_Mutation_p.A574T	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1368					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAACATCTCGCACCCCAGGA	0.438000													29	155					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47161906	47161906	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:47161906C>A	uc003cqv.3	-	2	4273	c.4187G>T	c.(4186-4188)aGg>aTg	p.R1396M	SETD2_uc003cqs.3_Missense_Mutation_p.R1407M	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCCTGCCTCCTTTTTTTAAG	0.388000			"""N, F, S, Mis"""		clear cell renal carcinoma								5	64					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599681	3599681	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:3599681G>T	uc003jde.3	+	1	671	c.619G>T	c.(619-621)Ggc>Tgc	p.G207C		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	207						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G207V(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGCGCTCTTCGGCAGCGACAC	0.632000													4	62					0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74720244	74720244	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:74720244C>A	uc002slt.2	+	12	1482	c.1459C>A	c.(1459-1461)Cag>Aag	p.Q487K	TTC31_uc002slu.2_Missense_Mutation_p.Q341K	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	487							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCCCCTCTCCCAGACTCAGAG	0.597000													8	167					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179102489	179102489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:179102489C>A	uc001gmj.4	-	1	465	c.178G>T	c.(178-180)Gag>Tag	p.E60*	ABL2_uc010pnf.2_Nonsense_Mutation_p.E60*|ABL2_uc010png.2_Intron|ABL2_uc010pnh.2_Intron|ABL2_uc009wxe.3_Intron|ABL2_uc001gmg.4_Nonsense_Mutation_p.E45*|ABL2_uc001gmi.4_Nonsense_Mutation_p.E45*|ABL2_uc010pne.2_Intron|ABL2_uc001gmk.3_Intron|ABL2_uc009wxf.2_Nonsense_Mutation_p.E45*	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	60	CAP.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	aatccatcctccacacagctg	0.408000			T	ETV6	AML								11	395					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699242	60699242	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:60699242C>A	uc001nqi.3	+	5	1294	c.1101C>A	c.(1099-1101)ccC>ccA	p.P367P	TMEM132A_uc001nqj.3_Silent_p.P366P|TMEM132A_uc001nqk.3_Silent_p.P379P|TMEM132A_uc001nql.1_Silent_p.P379P	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	366						Golgi membrane|endoplasmic reticulum membrane|integral to membrane		p.R366L(1)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TCACTCGCCCCGTCACGTGGC	0.582000													5	136					0	0	1	0	0
C1orf38	9473	broad.mit.edu	37	1	28203119	28203119	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:28203119G>T	uc001bpc.4	+	1	143	c.115G>T	c.(115-117)Ggg>Tgg	p.G39W	C1orf38_uc001bpa.3_Missense_Mutation_p.G39W|C1orf38_uc001boz.3_Missense_Mutation_p.G39W|C1orf38_uc010ofn.2_Missense_Mutation_p.G39W|C1orf38_uc010ofo.2_Missense_Mutation_p.G39W	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	39	CABIT 1.				cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGATCTCTGGGAATGAGTG	0.597000													8	135					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14284464	14284464	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:14284464C>A	uc001mle.3	+	15	2468	c.2200C>A	c.(2200-2202)Cga>Aga	p.R734R		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	735					cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.A733D(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GAGGGAGGCCCGAGAGAGCCG	0.592000													4	54					0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183714859	183714859	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:183714859C>A	uc003ivd.1	+	24	7109	c.7034C>A	c.(7033-7035)cCa>cAa	p.P2345Q		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2345					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTGTATGACCCACTCACCAAA	0.398000													6	102					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140379166	140379166	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:140379166C>A	uc010ncj.1	-	20	2557	c.2220G>T	c.(2218-2220)acG>acT	p.T740T	PNPLA7_uc004cnd.1_5'UTR|PNPLA7_uc004cne.1_5'UTR|PNPLA7_uc011mfa.1_Silent_p.T123T|PNPLA7_uc004cnf.2_Silent_p.T715T	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	715					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGCTGCCCTCCGTGGGGAGCC	0.672000													3	15					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36196700	36196700	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:36196700C>A	uc003olv.4	+	11	3525	c.3301C>A	c.(3301-3303)Cgg>Agg	p.R1101R	BRPF3_uc010jwb.3_Silent_p.R831R|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Intron|BRPF3_uc011dtk.2_Silent_p.R767R|BRPF3_uc010jwd.3_Silent_p.R3R	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	1101	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	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						CAAGATGCCCCGGGAGGGCCT	0.612000													6	106					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564168	139564168	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:139564168G>T	uc021zfy.1	-	9	1715	c.1550C>A	c.(1549-1551)cCg>cAg	p.P517Q		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	517						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GGACTGGTGCGGGGTTGACTC	0.527000													7	215					0	0	1	0	0
FBXL17	64839	broad.mit.edu	37	5	107216868	107216868	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:107216868A>G	uc011cvc.2	-	7	2242	c.1835T>C	c.(1834-1836)aTt>aCt	p.I612T	FBXL17_uc003kon.4_Missense_Mutation_p.I214T	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 17 (FBXL17), mRNA.	612										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)		GTATCGCCCAATGGCTATCAG	0.453000													24	103					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6103761	6103761	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:6103761C>A	uc001qnn.1	-	35	6326	c.6076G>T	c.(6076-6078)Ggg>Tgg	p.G2026W	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2026	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACCAGTCTCCCATTCACCGTC	0.473000													5	68					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245450	59245450	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:59245450G>T	uc001nnz.1	+	0	548	c.548G>T	c.(547-549)cGg>cTg	p.R183L		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GATGTCCACCGGGTCCTCAAA	0.493000													6	140					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000078	3000078	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:3000078G>T	uc022aqr.1	-	40	6540	c.6150C>A	c.(6148-6150)ccC>ccA	p.P2050P	CSMD1_uc011kwj.2_Silent_p.P1443P|CSMD1_uc010lrg.3_Silent_p.P119P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2051	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAGGGCCGCGGGGAGATCCG	0.463000													10	112					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71349790	71349790	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:71349790C>T	uc010nlh.2	-	0	1601	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Missense_Mutation_p.R534H	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	534										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					ACGACCTGTGCGGCGAATCAG	0.587000													5	16					0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067483	190067483	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:190067483G>T	uc001gse.1	-	7	2198	c.1966C>A	c.(1966-1968)Cgg>Agg	p.R656R	FAM5C_uc010pot.1_Silent_p.R554R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	656						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CCCAGGTTCCGGGAAGGGTCA	0.443000													6	161					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109545718	109545718	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:109545718G>T	uc010fjn.3	-	4	839	c.292C>A	c.(292-294)Cgg>Agg	p.R98R	EDAR_uc010yws.2_Silent_p.R98R|EDAR_uc002teq.4_Silent_p.R98R	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	98			R -> Q (in EDA).		apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	p.R98Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACGGTGGCCCGGAAGAAGCCC	0.607000													4	68					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19136386	19136386	+	Silent	SNP	G	G	T	rs145701669	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:19136386G>T	uc002nkz.1	-	2	833	c.813C>A	c.(811-813)acC>acA	p.T271T	SUGP2_uc002nkx.2_Silent_p.T257T|SUGP2_uc002nla.1_Silent_p.T257T|SUGP2_uc002nlb.2_Silent_p.T257T|SUGP2_uc010xqk.1_Intron	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	257					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TACGATTCACGGTGGGTATTT	0.493000													6	196					0	0	1	0	0
BRS3	680	broad.mit.edu	37	X	135572582	135572582	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:135572582G>A	uc004ezv.1	+	1	874	c.725G>A	c.(724-726)aGg>aAg	p.R242K		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	242					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTGATTGCTAGGACCCTTTAC	0.388000													13	20					0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78893932	78893932	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:78893932G>T	uc002bec.3	-	4	1553	c.1052C>A	c.(1051-1053)cCc>cAc	p.P351H	CHRNA3_uc002beb.3_Missense_Mutation_p.P351H|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	351					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.P351S(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CATGACCCTGGGGAGCAGGTT	0.552000													8	100					0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111350943	111350943	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:111350943C>A	uc001try.4	-	5	430	c.359G>T	c.(358-360)cGg>cTg	p.R120L	MYL2_uc001trx.4_Missense_Mutation_p.R101L	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	120	EF-hand 2.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CAGCATTTCCCGAACGCTGCA	0.597000													5	78					0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121691115	121691115	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:121691115G>T	uc001tzv.3	-	9	1897	c.1068C>A	c.(1066-1068)ccC>ccA	p.P356P	CAMKK2_uc001tzt.3_Silent_p.P356P|CAMKK2_uc001tzu.3_Silent_p.P356P|CAMKK2_uc001tzw.3_Silent_p.P356P|CAMKK2_uc001tzx.3_Silent_p.P356P|CAMKK2_uc001tzy.3_Silent_p.P356P|CAMKK2_uc001tzz.1_Silent_p.P143P|CAMKK2_uc001uaa.1_Silent_p.P356P|CAMKK2_uc001uab.3_Silent_p.P356P|CAMKK2_uc001uac.3_Silent_p.P356P	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	356	Protein kinase.				MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAGCGACTCGGGTGCCATGA	0.557000													4	60					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843415	40843415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:40843415G>T	uc002iay.3	+	14	2446	c.2230G>T	c.(2230-2232)Gga>Tga	p.G744*	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	744	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AACTGACAAGGGACTGCTGAC	0.592000													5	47					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3533382	3533382	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:3533382C>A	uc010dtk.2	+	10	1367	c.1333C>A	c.(1333-1335)Cgc>Agc	p.R445S	FZR1_uc002lxt.2_Missense_Mutation_p.R445S|FZR1_uc002lxv.2_Missense_Mutation_p.R356S	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	445					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding	p.R445G(4)		endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACTCCTACCGCGTGCTGTA	0.617000													4	53					0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35660492	35660492	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:35660492C>A	uc002nyg.2	+	8	599	c.511C>A	c.(511-513)Cgg>Agg	p.R171R	FXYD5_uc021usk.1_Silent_p.R171R|FXYD5_uc002nyh.2_Silent_p.R171R|FXYD5_uc021usl.1_Silent_p.R171R|FXYD5_uc002nyi.2_Silent_p.R108R|FXYD5_uc002nyj.1_Non-coding_Transcript	NM_014164	NP_659003	Q96DB9	FXYD5_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcript variant 2, mRNA.	171					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	p.R171L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCAGCTGTCCCGGTTATGCCG	0.567000													4	56					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236734959	236734959	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:236734959C>A	uc001hyd.2	-	26	3887	c.3735G>T	c.(3733-3735)caG>caT	p.Q1245H	HEATR1_uc009xgh.2_Missense_Mutation_p.Q407H	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1245					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.E1244D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCATATTTCCCTGCTCTTGTG	0.378000													5	55					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100463490	100463490	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:100463490C>A	uc003uwp.3	+	13	2150	c.2008C>A	c.(2008-2010)Cgg>Agg	p.R670R	SLC12A9_uc011kki.2_Silent_p.R201R|SLC12A9_uc003uwr.3_Silent_p.R406R|SLC12A9_uc003uws.3_Silent_p.R201R|SLC12A9_uc003uwt.3_Silent_p.R406R|SLC12A9_uc003uwv.3_Silent_p.R201R|TRIP6_uc010lhk.2_5'Flank|TRIP6_uc022aiv.1_5'Flank|TRIP6_uc003uww.3_5'Flank|TRIP6_uc022ait.1_5'Flank|TRIP6_uc022aiu.1_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	670						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCTCCTCCCCGGGCTCCTGG	0.662000													7	78					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12336481	12336481	+	Missense_Mutation	SNP	C	C	A	rs41279448	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:12336481C>A	uc001atv.3	+	18	2977	c.2836C>A	c.(2836-2838)Cgc>Agc	p.R946S	VPS13D_uc001atw.3_Missense_Mutation_p.R946S|VPS13D_uc001atx.3_Missense_Mutation_p.R134S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	946					protein localization			p.R946C(2)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCAGCATACCCGCGAGGTTCT	0.488000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	51					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42811689	42811689	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:42811689C>A	uc010goq.3	+	5	851	c.505C>A	c.(505-507)Cga>Aga	p.R169R	MX1_uc002yzh.3_Silent_p.R169R|MX1_uc002yzi.3_Silent_p.R169R	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	169					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	p.R169R(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GATCAGCTCCCGAGATGTCCC	0.507000													5	139					0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44211981	44211981	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:44211981C>A	uc001ztl.3	-	2	411	c.234G>T	c.(232-234)gtG>gtT	p.V78V	FRMD5_uc001ztk.1_5'UTR|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_5'UTR	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	78	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ATTGTTTCACCACAGACTTTG	0.408000													5	77					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171323094	171323094	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:171323094C>A	uc002ufy.3	+	24	3030	c.2887C>A	c.(2887-2889)Cga>Aga	p.R963R	MYO3B_uc002ufv.3_Silent_p.R950R|MYO3B_uc010fqb.1_Silent_p.R963R|MYO3B_uc002ufz.3_Silent_p.R963R|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	963	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity	p.R963Q(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CAATGATGACCGAGAGGCCCT	0.567000													6	153					0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72338388	72338388	+	RNA	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:72338388C>A	uc010lal.1	-	0		c.1268G>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		GTGTGCCTCCCGGGGGGAAGT	0.567000													4	63					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129809839	129809839	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:129809839G>T	uc003igp.2	-	19	2505	c.1999C>A	c.(1999-2001)Cag>Aag	p.Q667K	SCLT1_uc003ign.2_Missense_Mutation_p.Q331K|SCLT1_uc003igo.2_Missense_Mutation_p.Q277K|SCLT1_uc003igq.2_Missense_Mutation_p.Q286K|SCLT1_uc010iob.1_Missense_Mutation_p.Q154K	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	667						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CCTACCTGCTGGGAAGCTGAA	0.383000													6	108					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484856	45484856	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:45484856C>A	uc001cnd.2	-	13	3056	c.2828G>T	c.(2827-2829)cGg>cTg	p.R943L		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	943							zinc ion binding	p.R943L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAGTTCCTCCCGCTGTGGATA	0.542000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	60					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118475607	118475607	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:118475607G>T	uc003pxx.4	+	2	375	c.174_splice	c.e2-1	p.R58_splice		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	58					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTATTTCTCAGGGAGATGTTA	0.418000													6	118					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089369	57089369	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:57089369C>A	uc002qnl.4	+	5	2248	c.1572C>A	c.(1570-1572)ctC>ctA	p.L524L	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L524H(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATGCACACCTCGCGCAACATC	0.463000													5	53					0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146068362	146068362	+	Missense_Mutation	SNP	C	C	A	rs138064022		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:146068362C>A	uc010mge.3	+	4	2040	c.1903C>A	c.(1903-1905)Cgt>Agt	p.R635S	ZNF7_uc003zeg.4_Missense_Mutation_p.R624S|ZNF7_uc011lln.2_Missense_Mutation_p.R528S|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Missense_Mutation_p.R528S|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	624					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		CTTTGTGAGCCGTAAAAAGGT	0.433000													5	89					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65134173	65134173	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:65134173C>A	uc010wqk.2	-	21	3017	c.2830G>T	c.(2830-2832)Ggg>Tgg	p.G944W	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.G943W	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCTAACTTCCCCCACGCTACT	0.388000													6	111					0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367582	142367582	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:142367582G>T	uc022bby.1	-	0	442	c.442C>A	c.(442-444)Cgc>Agc	p.R148S	GPR20_uc003ywf.3_Missense_Mutation_p.R148S	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	148						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GCCAGGTAGCGGTCCACGCAG	0.701000													4	46					0	0	1	0	0
RNF113B	140432	broad.mit.edu	37	13	98829414	98829414	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:98829414C>A	uc001vnk.3	-	0	108	c.77G>T	c.(76-78)gGa>gTa	p.G26V	FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	Homo sapiens ring finger protein 113B (RNF113B), mRNA.	26							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCCTTTCCGTCCAGGCTTTTT	0.647000													5	49					0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7535319	7535319	+	Missense_Mutation	SNP	C	C	A	rs140325118		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:7535319C>A	uc002gie.2	+	5	876	c.838C>A	c.(838-840)Cac>Aac	p.H280N	SHBG_uc010cmu.2_Missense_Mutation_p.H222N|SHBG_uc010cmo.2_Missense_Mutation_p.H168N|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Missense_Mutation_p.H168N|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Missense_Mutation_p.H222N|SHBG_uc010cmz.2_Intron|SHBG_uc010cmv.2_Missense_Mutation_p.H168N|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Missense_Mutation_p.H222N|SHBG_uc002gid.3_Missense_Mutation_p.H222N|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Missense_Mutation_p.H262N|SHBG_uc010vuf.1_Missense_Mutation_p.H280N|SHBG_uc010cnb.2_Intron|SHBG_uc010cnc.2_Missense_Mutation_p.H226N	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	280	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GCTCAGTCTCCACCTCCAAGA	0.562000													7	205					0	0	1	0	0
FCRLB	127943	broad.mit.edu	37	1	161693343	161693343	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:161693343C>A	uc001gbh.3	+	4	473	c.239C>A	c.(238-240)cCa>cAa	p.P80Q	FCRLB_uc009wus.3_Missense_Mutation_p.P80Q|FCRLB_uc001gbi.3_Missense_Mutation_p.P80Q|FCRLB_uc001gbj.3_Missense_Mutation_p.P80Q|FCRLB_uc001gbk.3_Missense_Mutation_p.P80Q|FCRLB_uc001gbl.3_Missense_Mutation_p.P73Q|FCRLB_uc001gbm.3_Missense_Mutation_p.P73Q|FCRLB_uc001gbn.4_5'Flank	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Homo sapiens Fc receptor-like B (FCRLB), mRNA.	80	Ig-like C2-type 1.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GTGCAGACACCAGGGGTGTAT	0.592000													5	92					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97271200	97271200	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:97271200C>A	uc002swn.4	-	14	1936	c.1790G>T	c.(1789-1791)aGg>aTg	p.R597M	KANSL3_uc002swh.4_Missense_Mutation_p.R485M|KANSL3_uc002swi.4_Missense_Mutation_p.R524M|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.R510M|KANSL3_uc010fhz.3_Missense_Mutation_p.R417M|KANSL3_uc002swl.4_Missense_Mutation_p.R498M|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.R391M|KANSL3_uc002swo.3_5'UTR|KANSL3_uc002swp.1_Missense_Mutation_p.R498M	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	623																	CAGCTGAACCCTAAGATCCTC	0.502000													6	108					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002809	122002809	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:122002809G>T	uc003eew.4	+	6	2476	c.2038G>T	c.(2038-2040)Ggg>Tgg	p.G680W	CASR_uc003eev.4_Missense_Mutation_p.G670W	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	670					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L679M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTTCTTCATCGGGGAGCCCCA	0.602000													6	146					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572969	140572969	+	Missense_Mutation	SNP	T	T	G	rs143726447	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140572969T>G	uc003lix.3	+	0	1018	c.844T>G	c.(844-846)Ttt>Gtt	p.F282V		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	282	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATTCATTTTTTGATGCCTC	0.393000													12	58					0	0	1	0	0
MRPL27	51264	broad.mit.edu	37	17	48447883	48447883	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:48447883C>A	uc002iqq.3	-	1	136	c.105G>T	c.(103-105)tcG>tcT	p.S35S	MRPL27_uc002iqr.2_Silent_p.S35S|EME1_uc010dbp.2_5'Flank|EME1_uc002iqs.2_5'Flank	NM_016504	NP_057588	Q9P0M9	RM27_HUMAN	Homo sapiens mitochondrial ribosomal protein L27 (MRPL27), nuclear gene encoding mitochondrial protein, mRNA.	35					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			AGCTACCACCCGACTTCTTGG	0.502000													9	300					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8188432	8188432	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:8188432C>A	uc002mjf.3	-	22	3015	c.2998G>T	c.(2998-3000)Ggt>Tgt	p.G1000C		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1000	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGCAGGTACCGTGCGTGCAG	0.597000													4	52					0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41774513	41774513	+	Missense_Mutation	SNP	C	C	A	rs139687733	by1000genomes	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:41774513C>A	uc003ori.3	-	3	431	c.209G>T	c.(208-210)cGg>cTg	p.R70L		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	70					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.R70L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTAGAGATCCCGGACTTCCAT	0.592000													7	164					0	0	1	0	0
HIST1H4L	8368	broad.mit.edu	37	6	27841267	27841267	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:27841267C>A	uc003njz.3	-	0	23	c.22G>T	c.(22-24)Ggg>Tgg	p.G8W	HIST1H3I_uc003njy.3_5'Flank	NM_003546	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4l (HIST1H4L), mRNA.	8					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.G8G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						AGACccttcccgcctttgccg	0.557000													4	69					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31427854	31427854	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:31427854C>A	uc010cap.1	+	19	2438	c.2389C>A	c.(2389-2391)Ctg>Atg	p.L797M	ITGAD_uc002ebv.1_Missense_Mutation_p.L796M	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	796					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.E797K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGAGCTCCCTGGAGCTCAA	0.617000													6	133					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16040400	16040400	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:16040400C>A	uc002nbu.2	-	2	246	c.210G>T	c.(208-210)acG>acT	p.T70T	CYP4F11_uc010eab.1_Silent_p.T70T|CYP4F11_uc002nbt.2_Silent_p.T70T	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	70					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCCCTCTTCCGTGGGAGTGA	0.517000													8	128					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21906054	21906054	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:21906054G>T	uc021pny.1	+	6	617	c.617G>T	c.(616-618)cGg>cTg	p.R206L	MLLT10_uc001iqs.3_Missense_Mutation_p.R206L|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Missense_Mutation_p.R206L|MLLT10_uc001ira.3_5'UTR	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	206	Interaction with FSTL3.|Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAGAGCAAACGGGGATCTAAT	0.274000			T	"""MLL, PICALM, CDK6"""	AL								3	21					0	0	1	0	0
EEF1E1	9521	broad.mit.edu	37	6	8097604	8097604	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:8097604C>A	uc003mxz.3	-	1	258	c.184G>T	c.(184-186)Ggg>Tgg	p.G62W	TXNDC5_uc021ylg.1_Non-coding_Transcript|EEF1E1_uc011dic.2_Missense_Mutation_p.G62W	NM_004280	NP_004271	O43324	MCA3_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 epsilon 1 (EEF1E1), transcript variant 1, mRNA.	62	GST C-terminal.				negative regulation of cell proliferation|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of apoptosis|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					GCAGTACTCCCCAGCAAATAT	0.418000													6	135					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10976836	10976836	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:10976836C>A	uc003bvz.3	+	12	1731	c.1697C>A	c.(1696-1698)cCg>cAg	p.P566Q		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	566					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P566Q(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CTCTGCATCCCGCTCTGGATC	0.602000													7	143					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73491708	73491708	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:73491708C>A	uc010wsa.2	+	20	3150	c.2958C>A	c.(2956-2958)acC>acA	p.T986T	KIAA0195_uc002jnz.4_Silent_p.T976T|KIAA0195_uc010wsb.2_Silent_p.T616T|KIAA0195_uc002job.4_5'UTR	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	976					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTTTTCACCGACTGCACCC	0.637000													7	228					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111795794	111795794	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:111795794C>A	uc010hqb.2	+	13	1819	c.1649C>A	c.(1648-1650)cCg>cAg	p.P550Q	TMPRSS7_uc011bhr.1_Missense_Mutation_p.P405Q	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	676	LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	p.P405L(1)|p.P550L(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTGTCTCCCCGGTGAGAAGA	0.453000													6	171					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7656792	7656792	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:7656792G>T	uc001mfj.4	+	13	1592	c.1204G>T	c.(1204-1206)Ggg>Tgg	p.G402W	PPFIBP2_uc010rbb.1_Missense_Mutation_p.G325W|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Missense_Mutation_p.G325W|PPFIBP2_uc010rbd.1_Missense_Mutation_p.G244W|PPFIBP2_uc010rbe.2_Missense_Mutation_p.G290W|PPFIBP2_uc001mfl.4_Missense_Mutation_p.G259W|PPFIBP2_uc009yfj.1_Missense_Mutation_p.G46W	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	402					DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTGTATGGATGGGAACCAGCC	0.423000													5	96					0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34278462	34278462	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:34278462C>A	uc002xdw.2	-	4	511	c.434G>T	c.(433-435)cGg>cTg	p.R145L	NFS1_uc002xdt.2_Missense_Mutation_p.R85L|NFS1_uc010zvl.2_Intron|NFS1_uc010zvk.2_5'UTR	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	145					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GTGCTTTTTCCGTGACCTGTA	0.493000													5	145					0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145745392	145745392	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:145745392C>A	uc003zdk.2	+	1	457	c.283C>A	c.(283-285)Cgg>Agg	p.R95R	RECQL4_uc003zdj.3_5'Flank|LRRC14_uc003zdl.2_Silent_p.R95R	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	95										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCTGACTGCCCGGCTCCACAC	0.647000													5	80					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13494598	13494598	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:13494598C>A	uc001imm.2	-	6	1265	c.968G>T	c.(967-969)tGg>tTg	p.W323L	BEND7_uc001iml.2_Non-coding_Transcript|BEND7_uc001imn.3_Missense_Mutation_p.W84L|BEND7_uc001imo.4_Missense_Mutation_p.W336L	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	375	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AATCTGTACCCAATCTCTTGG	0.368000													6	131					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686661	53686661	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:53686661G>T	uc002ehp.3	-	14	2002	c.1938C>A	c.(1936-1938)ccC>ccA	p.P646P	RPGRIP1L_uc002eho.4_Silent_p.P646P|RPGRIP1L_uc010vgy.2_Silent_p.P646P|RPGRIP1L_uc010cbx.3_Silent_p.P646P|RPGRIP1L_uc010vgz.1_Silent_p.P646P	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	646	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CTCGCACTACGGGAGTTGTCT	0.368000													4	70					0	0	1	0	0
SHF	90525	broad.mit.edu	37	15	45467512	45467512	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:45467512C>A	uc001zuy.3	-	3	1052	c.557G>T	c.(556-558)cGg>cTg	p.R186L	SHF_uc010uen.2_Missense_Mutation_p.R49L|SHF_uc010ueo.2_Missense_Mutation_p.R49L|SHF_uc010ues.1_Missense_Mutation_p.R49L|SHF_uc010uet.1_Missense_Mutation_p.R49L|SHF_uc010ueu.2_Missense_Mutation_p.R49L	NM_138356	NP_612365	B3KTY1	B3KTY1_HUMAN	Homo sapiens Src homology 2 domain containing F (SHF), mRNA.	186										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GCGGGACTCCCGGGGCCAGGG	0.627000													3	15					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38197176	38197176	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:38197176G>T	uc009vvi.3	-	6	1656	c.1570C>A	c.(1570-1572)Cgc>Agc	p.R524S	EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	524	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.T524T(1)|p.R525C(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGACGTAGCGGGTAGCCGGC	0.587000													7	146					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99956498	99956498	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:99956498C>A	uc004egd.4	-	4	638	c.282G>T	c.(280-282)caG>caT	p.Q94H	SYTL4_uc010nnc.3_Missense_Mutation_p.Q94H|SYTL4_uc004ege.4_Missense_Mutation_p.Q94H|SYTL4_uc004egf.4_Missense_Mutation_p.Q94H|SYTL4_uc004egg.4_Missense_Mutation_p.Q94H	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	94	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid 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)	CATTGCTTTCCTGTATGCGGC	0.582000													6	81					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14880774	14880774	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:14880774C>A	uc001mln.3	+	12	3059	c.2706C>A	c.(2704-2706)ctC>ctA	p.L902L	PDE3B_uc010rcr.2_Silent_p.L851L	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	902	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGATTTTCTCGCAGAATTCA	0.308000													4	72					0	0	1	0	0
RPL31	6160	broad.mit.edu	37	2	101619172	101619172	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:101619172C>A	uc010yvu.1	+	1	96	c.9C>A	c.(7-9)ccC>ccA	p.P3P	RPL31_uc002taq.4_Silent_p.P3P|RPL31_uc002tar.4_Silent_p.P3P|RPL31_uc010yvv.1_Silent_p.P3P|RPL31_uc010fiu.1_Silent_p.P3P	NM_001099693	NP_001093163	P62899	RL31_HUMAN	Homo sapiens ribosomal protein L31 (RPL31), transcript variant 4, mRNA.	3					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						AGATGGCTCCCGCAAAGAAGG	0.547000													4	59					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124951822	124951822	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:124951822G>T	uc003ehx.4	-	8	2234	c.1748C>A	c.(1747-1749)cCg>cAg	p.P583Q	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.P583Q|ZNF148_uc010hsa.3_Missense_Mutation_p.P583Q|ZNF148_uc003eia.4_Missense_Mutation_p.P583Q|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	583					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ATTCTCTGACGGGGTGACCTC	0.438000													6	126					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397387	5397387	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:5397387C>A	uc002kmt.1	-	17	2597	c.2511G>T	c.(2509-2511)acG>acT	p.T837T	EPB41L3_uc010wzh.1_Silent_p.T668T|EPB41L3_uc002kmu.1_Silent_p.T615T|EPB41L3_uc010dkq.1_Silent_p.T506T|EPB41L3_uc002kms.1_Silent_p.T72T|EPB41L3_uc010wze.1_Silent_p.T142T|EPB41L3_uc010wzf.1_Silent_p.T134T|EPB41L3_uc010wzg.1_Silent_p.T109T|EPB41L3_uc010dkr.2_Silent_p.T229T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	837	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.T837M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CGGTGGGTTCCGTCTCTATTC	0.542000													5	90					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19745901	19745901	+	Missense_Mutation	SNP	G	G	T	rs34970769	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:19745901G>T	uc002nnd.3	-	15	1799	c.1682C>A	c.(1681-1683)cCg>cAg	p.P561Q	GMIP_uc010xrb.2_Missense_Mutation_p.P535Q|GMIP_uc010xrc.2_Missense_Mutation_p.P532Q	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	561	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding	p.P561P(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TACCTCCTCCGGGAAGTCCCT	0.607000													5	66					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032075	10032075	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:10032075C>T	uc010uym.2	-	3	1058	c.748G>A	c.(748-750)Ggg>Agg	p.G250R	GRIN2A_uc002czo.4_Missense_Mutation_p.G250R|GRIN2A_uc010uyn.2_Missense_Mutation_p.G93R|GRIN2A_uc002czr.4_Missense_Mutation_p.G250R	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	250					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAATCATACCCGGTGAGGCCA	0.512000													9	71					0	0	1	0	0
RASA4	10156	broad.mit.edu	37	7	102235796	102235796	+	Silent	SNP	G	G	T	rs144817729		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:102235796G>T	uc003vae.3	-	10	1096	c.1027C>A	c.(1027-1029)Cgg>Agg	p.R343R	RASA4_uc011kla.2_Silent_p.R271R|RASA4_uc010lig.3_Silent_p.R271R|RASA4_uc003vaf.3_Silent_p.R343R|RASA4_uc011klb.2_Silent_p.R271R|RASA4_uc010lih.2_Silent_p.R151R|RASA4_uc011kld.1_Intron|AK311374_uc003vag.1_Intron|RASA4_uc011kkz.2_5'Flank|RASA4_uc011klc.1_5'Flank	NM_006989	NP_008920	O43374	RASL2_HUMAN	Homo sapiens RAS p21 protein activator 4 (RASA4), transcript variant 1, mRNA.	343	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						GAGTTGCTCCGGAACAGGGTG	0.537000													7	128					0	0	1	0	0
SMCR7L	54471	broad.mit.edu	37	22	39910032	39910032	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:39910032A>T	uc003axw.3	+	5	1593	c.1096A>T	c.(1096-1098)Atc>Ttc	p.I366F	SMCR7L_uc010gxz.1_Missense_Mutation_p.I188F|SMCR7L_uc003axx.3_Missense_Mutation_p.I366F|SMCR7L_uc003axy.3_Missense_Mutation_p.I188F	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7-like (SMCR7L), nuclear gene encoding mitochondrial protein, mRNA.	366						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					GTGCCTCAAGATCCTCAAGGC	0.642000											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	74					0	0	1	0	0
SHOX	6473	broad.mit.edu	37	X	591826	591826	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:591826A>T	uc004cph.1	+	1	885	c.194A>T	c.(193-195)cAc>cTc	p.H65L	SHOX_uc004cpi.3_Missense_Mutation_p.H65L	NM_000451	NP_000442	O15266	SHOX_HUMAN	Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.	65					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		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)				GGCGGCGGCCACTGCCCGGTG	0.587000													22	141					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47514723	47514723	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:47514723C>A	uc003gxk.1	+	1	330	c.166C>A	c.(166-168)Cac>Aac	p.H56N	ATP10D_uc003gxj.3_Missense_Mutation_p.H56N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	56					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						TGTTGTTCCCCACATCCAGCC	0.488000													6	69					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22029362	22029362	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:22029362G>T	uc010gtj.1	+	5	369	c.253G>T	c.(253-255)Ggg>Tgg	p.G85W	PPIL2_uc002zvh.4_Missense_Mutation_p.G85W|PPIL2_uc002zvi.4_Missense_Mutation_p.G85W|PPIL2_uc002zvg.4_Missense_Mutation_p.G85W|PPIL2_uc011aij.2_Missense_Mutation_p.G64W	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	85	U-box.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GAAGCTGGACGGGAGGTCCCT	0.478000													6	84					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50249819	50249819	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:50249819G>T	uc002ppm.3	-	5	911	c.900C>A	c.(898-900)ccC>ccA	p.P300P		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	300							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCAGCCTGCGGGGACCAGGC	0.721000													5	69					0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62200163	62200163	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:62200163G>T	uc002yfm.2	-	5	2170	c.1278C>A	c.(1276-1278)ccC>ccA	p.P426P	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	426					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CCGTATTGTCGGGTGCAGGTA	0.701000													4	36					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73498332	73498332	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:73498332C>A	uc001jrx.4	+	32	4668	c.4278C>A	c.(4276-4278)ccC>ccA	p.P1426P	C10orf105_uc001jsb.2_5'Flank|CDH23_uc001jsc.1_Silent_p.P236P	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1429	Cadherin 14.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.P1434P(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCAGCATACCCGAGGACTGCC	0.607000													5	71					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46544601	46544601	+	Splice_Site	SNP	C	C	A	rs111945370		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:46544601C>A	uc010tfw.1	-	12	2475	c.2469_splice	c.e12-1	p.K823_splice	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Splice_Site_p.K823_splice|ZC3H13_uc001vat.1_Splice_Site_p.K823_splice	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	823	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATAGCGCTTCCTAAATTGGAC	0.408000													6	146					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93180173	93180173	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:93180173G>T	uc001yav.3	-	7	899	c.538C>A	c.(538-540)Cga>Aga	p.R180R	LGMN_uc001yat.3_Silent_p.R180R|LGMN_uc001yau.3_Silent_p.R180R|LGMN_uc001yaw.3_Silent_p.R180R	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	180					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	p.R180*(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ATTACCTTTCGGTACATTTTG	0.507000													4	63					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7805968	7805968	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:7805968C>A	uc001aoi.3	+	17	4641	c.4434C>A	c.(4432-4434)ccC>ccA	p.P1478P	CAMTA1_uc001aok.4_Silent_p.P521P|CAMTA1_uc001aoj.3_Silent_p.P434P|CAMTA1_uc009vmf.3_Silent_p.P68P	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1478					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)		TTGGCTCTCCCGTCAGTGAAA	0.473000			T	WWTR1	epitheliod hemangioendothelioma								8	199					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47516881	47516881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:47516881C>A	uc002leb.2	-	6	1054	c.766G>T	c.(766-768)Gag>Tag	p.E256*	MYO5B_uc021ukb.1_Nonsense_Mutation_p.E255*	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	256	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TAATTCCTCTCATCATCTGCC	0.502000													4	51					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31633096	31633096	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:31633096G>T	uc001rkh.1	-	4	587	c.436C>A	c.(436-438)Cgc>Agc	p.R146S	DENND5B_uc001rki.1_Missense_Mutation_p.R111S|DENND5B_uc001rkj.3_Missense_Mutation_p.R133S|DENND5B_uc001rkk.1_Missense_Mutation_p.R33S	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	111						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCATAGGTGCGAGAACCATCT	0.413000													3	13					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131939623	131939623	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:131939623C>A	uc003qcs.1	-	8	878	c.704G>T	c.(703-705)gGt>gTt	p.G235V	MED23_uc003qcq.3_Missense_Mutation_p.G235V|MED23_uc003qct.1_Missense_Mutation_p.G235V|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	235					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.S234L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACAAATGGCACCCGAATTATT	0.368000													5	27					0	0	1	0	0
LENG9	94059	broad.mit.edu	37	19	54973867	54973867	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:54973867G>T	uc010yez.2	-	0	1028	c.909C>A	c.(907-909)ccC>ccA	p.P303P		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 9 (LENG9), mRNA.	303					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		TTTTGTCCTCGGGCCAGGCCG	0.662000													4	57					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38139373	38139373	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:38139373C>A	uc003chp.1	+	17	2725	c.2704C>A	c.(2704-2706)Ctc>Atc	p.L902I	DLEC1_uc003cho.1_Missense_Mutation_p.L902I|DLEC1_uc010hgv.1_Missense_Mutation_p.L902I|DLEC1_uc003chr.1_Missense_Mutation_p.L8I|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	902					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCAGTCTCCCTCCAGGAAAG	0.597000													5	51					0	0	1	0	0
CHN1	1123	broad.mit.edu	37	2	175677131	175677131	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:175677131C>A	uc002uji.3	-	8	1133	c.792G>T	c.(790-792)aaG>aaT	p.K264N	CHN1_uc010zeq.2_Missense_Mutation_p.K238N|CHN1_uc002ujj.3_Missense_Mutation_p.K39N|CHN1_uc002ujg.3_Missense_Mutation_p.K139N	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	264					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding	p.K264N(2)|p.K139N(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AGCTGTACACCTTTTTGACAT	0.443000			T	TAF15	extraskeletal myxoid chondrosarcoma								6	121					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48146663	48146663	+	Silent	SNP	C	C	A	rs142177730		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:48146663C>A	uc001ngp.4	+	5	1373	c.1018C>A	c.(1018-1020)Cga>Aga	p.R340R	PTPRJ_uc001ngo.4_Silent_p.R340R	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	340	Fibronectin type-III 3.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCCTGGCACCCGATACAATGC	0.562000													6	131					0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45475081	45475081	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:45475081C>A	uc009vxk.3	-	5	1047	c.949G>T	c.(949-951)Ggg>Tgg	p.G317W	HECTD3_uc001cmy.4_5'Flank|HECTD3_uc010olh.2_Missense_Mutation_p.G33W|UROD_uc010oli.2_5'Flank|UROD_uc001cna.2_5'Flank|UROD_uc001cnb.2_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	Homo sapiens HECT domain containing 3 (HECTD3), mRNA.	317	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	p.G317W(1)|p.G33W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AGGTTGTCCCCTTCACCCCCA	0.532000													14	283					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	314923	314923	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:314923C>A	uc002cgf.3	+	12	1756	c.1561C>A	c.(1561-1563)Cca>Aca	p.P521T	LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.3_Missense_Mutation_p.P521T	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	521						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GGACCTTGTCCCAAGCAGCAG	0.657000													5	62					0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178257465	178257465	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:178257465C>A	uc003iut.2	+	3	734	c.617C>A	c.(616-618)cCa>cAa	p.P206Q	NEIL3_uc010irs.3_Missense_Mutation_p.P109Q	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	206					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		GGTCTCCACCCAGCTGTTAAA	0.403000								Base excision repair (BER), DNA glycosylases					5	89					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45533704	45533704	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:45533704C>A	uc002zeb.3	+	2	292	c.202C>A	c.(202-204)Cgc>Agc	p.R68S		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	68						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CCCGGATGGCCGCCTCGCTAT	0.567000													4	54					0	0	1	0	0
S100A14	57402	broad.mit.edu	37	1	153588321	153588321	+	Missense_Mutation	SNP	C	C	A	rs146757822		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:153588321C>A	uc001fce.3	-	1	130	c.14G>T	c.(13-15)cGg>cTg	p.R5L	S100A16_uc001fcd.1_5'Flank	NM_020672	NP_065723	Q9HCY8	S10AE_HUMAN	Homo sapiens S100 calcium binding protein A14 (S100A14), mRNA.	5					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTTGGCTGACCGACACTGTCC	0.572000													5	27					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46318255	46318255	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:46318255C>A	uc002pdm.3	-	0	351	c.180G>T	c.(178-180)agG>agT	p.R60S		NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	60						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ACAGGCTGCCCCTCTGTGACC	0.647000													6	70					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7727981	7727981	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:7727981C>A	uc002giu.1	+	75	11803	c.11789C>A	c.(11788-11790)cCc>cAc	p.P3930H	DNAH2_uc010cnm.1_Missense_Mutation_p.P868H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3930	AAA 6 (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)				AGCTCCATCCCCCACCCAGAC	0.552000													7	132					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6423820	6423820	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:6423820C>A	uc001mdb.1	-	6	1340	c.1240G>T	c.(1240-1242)Ggg>Tgg	p.G414W	APBB1_uc001mdd.3_Missense_Mutation_p.G194W|APBB1_uc001mdc.1_Missense_Mutation_p.G414W|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_Missense_Mutation_p.G35W|APBB1_uc010rae.1_Missense_Mutation_p.G179W|APBB1_uc009yey.2_Missense_Mutation_p.G155W|APBB1_uc009yfa.2_Missense_Mutation_p.G155W|APBB1_uc010rag.1_Missense_Mutation_p.G155W|APBB1_uc009yfb.2_Missense_Mutation_p.G155W|APBB1_uc001mde.2_Missense_Mutation_p.G155W|APBB1_uc010rah.1_Missense_Mutation_p.G155W	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	414	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.G414G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCCAGCCCCCAGACATGGGG	0.582000													6	109					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104701	74104701	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:74104701C>A	uc003pgw.3	+	0	417	c.73C>A	c.(73-75)Cga>Aga	p.R25R	OOEP_uc003pgv.4_5'UTR|DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	25						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GACAGTGTCCCGAGCGCCAGA	0.637000													6	118					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99007500	99007500	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:99007500C>A	uc001tfv.3	-	2	1026	c.916G>T	c.(916-918)Ggg>Tgg	p.G306W	IKBIP_uc001tfw.3_3'UTR	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	Homo sapiens IKBKB interacting protein (IKBIP), transcript variant 2, mRNA.	306					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ACCAATCTCCCAATGCGTAGT	0.323000													6	88					0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45153973	45153973	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:45153973G>T	uc002zdm.4	+	1	309	c.111G>T	c.(109-111)gcG>gcT	p.A37A	PDXK_uc002zdn.4_Silent_p.A37A|PDXK_uc002zdp.3_Silent_p.A98A	NM_003681	NP_003672	O00764	PDXK_HUMAN	Homo sapiens pyridoxal (pyridoxine, vitamin B6) kinase (PDXK), mRNA.	37					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	AGATTGACGCGGTGAACTCTG	0.572000													5	91					0	0	1	0	0
MPND	84954	broad.mit.edu	37	19	4355118	4355118	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:4355118C>A	uc002mae.3	+	7	1011	c.944C>A	c.(943-945)cCt>cAt	p.P315H	MPND_uc010dtx.2_Non-coding_Transcript|MPND_uc002mag.3_Intron	NM_032868	NP_116257	Q8N594	MPND_HUMAN	Homo sapiens MPN domain containing (MPND), transcript variant 1, mRNA.	315	MPN.						peptidase activity	p.F314C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCCTTCCCTTGTCGGAGC	0.677000													5	44					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90460077	90460077	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:90460077C>A	uc003pnn.1	-	23	3518	c.3402G>T	c.(3400-3402)aaG>aaT	p.K1134N		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1134					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCTACCTTCCTTAAAGACAA	0.408000													6	117					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26392637	26392637	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:26392637C>A	uc003nht.3	+	7	1147	c.1014C>A	c.(1012-1014)ccC>ccA	p.P338P	BTN2A2_uc003nhs.3_Intron|BTN2A2_uc003nhq.3_Silent_p.P338P|BTN2A2_uc003nhr.3_Silent_p.P222P|BTN2A2_uc011dkh.2_Silent_p.P128P|BTN2A2_uc011dkg.2_3'UTR|BTN2A2_uc011dki.1_3'UTR	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	338	B30.2/SPRY.				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						CCGCTCATCCCGAGCTCTTCC	0.587000													6	77					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38927621	38927621	+	Silent	SNP	G	G	T	rs145290679		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:38927621G>T	uc021wvy.1	-	15	3143	c.2944C>A	c.(2944-2946)Cga>Aga	p.R982R	SCN11A_uc010hhn.1_Intron	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	982					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)	ATTACCTTTCGGGGATCCTGT	0.448000													5	90					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74919621	74919621	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:74919621C>A	uc002fdh.1	-	24	2721	c.2619G>T	c.(2617-2619)tgG>tgT	p.W873C	WDR59_uc002fdf.1_Missense_Mutation_p.W318C|WDR59_uc002fdg.1_Missense_Mutation_p.W465C	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	873										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CTCTCAGACCCCAACGGTAGA	0.463000													6	84					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468100	74468100	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:74468100C>A	uc002axg.1	+	1	1183	c.901C>A	c.(901-903)Cag>Aag	p.Q301K	ISLR_uc002axh.1_Missense_Mutation_p.Q301K|ISLR_uc021sqf.1_Missense_Mutation_p.Q301K	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	301	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGCCAGCTCCCAGCCGCGCTT	0.632000													7	122					0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142519702	142519702	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:142519702C>A	uc003qiw.3	+	5	662	c.647C>A	c.(646-648)cCg>cAg	p.P216Q	VTA1_uc011edu.2_Missense_Mutation_p.P158Q	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.	216	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CAGATTCCTCCGGGTGCACAC	0.468000													4	48					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123310859	123310859	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:123310859C>A	uc021pzz.1	-	4	1216	c.569G>T	c.(568-570)cGg>cTg	p.R190L	FGFR2_uc021pzv.1_Missense_Mutation_p.R190L|FGFR2_uc021pzw.1_Missense_Mutation_p.R75L|FGFR2_uc021pzx.1_Missense_Mutation_p.R101L|FGFR2_uc021pzy.1_Missense_Mutation_p.R190L|FGFR2_uc010qtl.2_Missense_Mutation_p.R190L|FGFR2_uc010qtm.2_Missense_Mutation_p.R75L|FGFR2_uc021qaa.1_Missense_Mutation_p.R190L|FGFR2_uc021qab.1_Missense_Mutation_p.R101L|FGFR2_uc021qac.1_Missense_Mutation_p.R120L|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.R209L|FGFR2_uc010qto.2_Missense_Mutation_p.R94L|FGFR2_uc001lfo.1_Missense_Mutation_p.R209L|FGFR2_uc010qtp.2_Missense_Mutation_p.R209L|FGFR2_uc010qtq.2_Missense_Mutation_p.R209L	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	190	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TTTCAGCCACCGCATGGTTGG	0.493000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				5	106					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95263191	95263191	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:95263191C>A	uc011lty.2	-	8	1936	c.1749G>T	c.(1747-1749)ctG>ctT	p.L583L	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Silent_p.L561L|ECM2_uc004asg.3_Silent_p.L561L|ECM2_uc010mqz.2_Silent_p.L5L	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	583					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ACAAGTATTCCAGGCCTGGTT	0.478000													6	118					0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293631	94293631	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:94293631C>A	uc003uno.3	+	1	1242	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	PEG10_uc011kie.2_Silent_p.R331R|PEG10_uc022ahn.1_Silent_p.R255R	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	255	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCGCCACCCCGGGCGCTGGT	0.622000													4	24					0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79682587	79682587	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:79682587C>A	uc010wut.2	+	6	890	c.758C>A	c.(757-759)cCc>cAc	p.P253H	SLC25A10_uc002kbi.3_Missense_Mutation_p.P98H|SLC25A10_uc010dif.3_Missense_Mutation_p.P98H|SLC25A10_uc010wuu.2_Missense_Mutation_p.P52H	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	98					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GGGCCTCTCCCCTTCCACGAG	0.697000													11	302					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244673	46244673	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:46244673C>A	uc001ros.1	+	14	2767	c.2767C>A	c.(2767-2769)Caa>Aaa	p.Q923K	ARID2_uc001ror.3_Missense_Mutation_p.Q923K|ARID2_uc009zkg.1_Missense_Mutation_p.Q379K|ARID2_uc009zkh.1_Missense_Mutation_p.Q550K|ARID2_uc001rou.1_Missense_Mutation_p.Q257K	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	923	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAGCCAACCCAACAAAGCGT	0.473000			"""N, S, F"""		hepatocellular carcinoma								6	138					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146765330	146765330	+	Silent	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:146765330T>C	uc001epm.4	+	20	2493	c.2430T>C	c.(2428-2430)aaT>aaC	p.N810N	CHD1L_uc001epn.4_Silent_p.N697N|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Silent_p.N716N|CHD1L_uc010ozp.2_Silent_p.N529N|CHD1L_uc001epo.4_Silent_p.N606N|CHD1L_uc009wji.3_Silent_p.N529N	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	810	Macro.				DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					ATCGTTCCAATGTCCTGTCTG	0.463000													26	151					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70820060	70820060	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:70820060C>A	uc003kbp.1	+	24	5945	c.5682C>A	c.(5680-5682)ccC>ccA	p.P1894P	BDP1_uc003kbo.3_Silent_p.P1894P|BDP1_uc003kbq.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1894					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATCTTGCTCCCGAAGAAGTAA	0.458000													6	104					0	0	1	0	0
NPIPL3	23117	broad.mit.edu	37	16	21416258	21416258	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:21416258G>T	uc021tei.1	-	7	1116	c.999C>A	c.(997-999)ccC>ccA	p.P333P	LOC23117_uc021tel.1_Intron|LOC23117_uc010bwt.2_Non-coding_Transcript|NPIPL3_uc021tem.1_Silent_p.P314P|NPIPL3_uc002diu.1_Non-coding_Transcript|LOC23117_uc021ten.1_Non-coding_Transcript|NPIPL3_uc010bwu.1_Silent_p.P150P|NPIPL3_uc002dix.1_Silent_p.P333P	NM_130464	NP_569731	Q92617	NPPL3_HUMAN	Homo sapiens nuclear pore complex interacting protein-like 3 (NPIPL3), mRNA.	333						integral to membrane											CATCCGCTGAGGGTGGAAGGG	0.552000													6	98					0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207500165	207500165	+	Missense_Mutation	SNP	C	C	A	rs144692928		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:207500165C>A	uc001hfq.4	+	4	941	c.647C>A	c.(646-648)cCg>cAg	p.P216Q	CD55_uc001hfr.4_Missense_Mutation_p.P216Q|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Missense_Mutation_p.P152Q|CD55_uc009xce.3_Missense_Mutation_p.P216Q	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	216	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TGGAGTGACCCGTTGCCAGAG	0.393000													7	152					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	892349	892349	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:892349G>T	uc009vjq.3	-	3	470	c.411C>A	c.(409-411)ccC>ccA	p.P137P	NOC2L_uc001aby.4_5'UTR|NOC2L_uc001abz.4_Silent_p.P137P	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	137						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCAGCCCTCTGGGGACTCTGT	0.582000													7	164					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81056307	81056307	+	Missense_Mutation	SNP	C	C	A	rs138149224		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:81056307C>A	uc001kaf.2	+	12	1882	c.1310C>A	c.(1309-1311)cCg>cAg	p.P437Q	ZMIZ1_uc001kag.2_Missense_Mutation_p.P313Q|ZMIZ1_uc001kah.1_3'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	437	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCAACCCCCCGAGGCCACTC	0.632000													5	115					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511557	169511557	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:169511557C>A	uc001ggg.1	-	12	2916	c.2771G>T	c.(2770-2772)tGg>tTg	p.W924L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	924	2 X 17 AA tandem repeats.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGGGTCCTTCCAGGGCCTCAT	0.488000													6	144					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72865287	72865287	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:72865287C>A	uc003tyc.3	-	13	3822	c.3470G>T	c.(3469-3471)cGg>cTg	p.R1157L		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	1157					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	p.I1156I(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGAGCTTCCCGGATTGCTGT	0.483000													4	44					0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52433337	52433337	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:52433337C>A	uc002abt.1	-	7	692	c.627_splice	c.e7+1	p.Q209_splice	GNB5_uc002abr.1_Splice_Site_p.Q167_splice|GNB5_uc002abs.1_Intron	NM_016194	NP_057278	O14775	GBB5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA.	209						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCCTATTTACCTGCATGTCAG	0.507000													6	87					0	0	1	0	0
ASAH1	427	broad.mit.edu	37	8	17915074	17915074	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:17915074C>A	uc003wyn.2	-	13	1402	c.1205G>T	c.(1204-1206)cGg>cTg	p.R402L	ASAH1_uc003wyl.2_Missense_Mutation_p.R386L|ASAH1_uc003wym.2_Missense_Mutation_p.R361L|ASAH1_uc003wyo.2_Missense_Mutation_p.R380L	NM_004315	NP_004306	Q13510	ASAH1_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1), transcript variant 2, mRNA.	386					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		AGGGCAGTCCCGCAGGTAAGT	0.453000													4	60					0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661213	35661213	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:35661213C>A	uc003anl.3	+	4	1006	c.832C>A	c.(832-834)Cac>Aac	p.H278N	HMGXB4_uc011amh.1_Missense_Mutation_p.H169N|HMGXB4_uc003ank.3_Missense_Mutation_p.H169N	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	278					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGCAGAGTCCCACAGTGCTAA	0.517000													5	65					0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65041233	65041233	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:65041233G>T	uc002anq.3	-	4	636	c.384C>A	c.(382-384)ccC>ccA	p.P128P		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	Homo sapiens RNA binding protein with multiple splicing 2 (RBPMS2), mRNA.	128							nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						CTCCTAGGGCGGGGTGCACGT	0.567000													5	88					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52603217	52603217	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:52603217G>A	uc001vgb.3	+	1	839	c.277G>A	c.(277-279)Gtt>Att	p.V93I	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Missense_Mutation_p.V93I	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	93					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GCTTGAGCCCGTTAAAACTTC	0.423000													21	117					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32032716	32032716	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:32032716C>A	uc003nzl.2	-	18	6925	c.6723G>T	c.(6721-6723)ccG>ccT	p.P2241P		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2313	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTCGTGTCCCGGCACCCGCA	0.632000													5	47					0	0	1	0	0
NIM1	167359	broad.mit.edu	37	5	43277224	43277224	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:43277224C>A	uc003jno.3	+	2	1239	c.358C>A	c.(358-360)Cga>Aga	p.R120R		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	120	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										GCTACTATCCCGAGAAATCTC	0.463000													5	86					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50279395	50279395	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:50279395C>A	uc003bix.2	+	1	2555	c.2085C>A	c.(2083-2085)ccC>ccA	p.P695P	ZBED4_uc021wrx.1_Silent_p.P695P	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	695						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.P695P(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACTCCCTCCCCGCCCCTTCCT	0.458000													6	151					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30318243	30318243	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:30318243C>A	uc002ymr.2	-	20	3805	c.3792G>T	c.(3790-3792)ctG>ctT	p.L1264L		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1218							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TATTTACACCCAGTACCTCTG	0.353000													5	74					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6961392	6961392	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:6961392C>A	uc001qri.4	+	0	108	c.49C>A	c.(49-51)Cgg>Agg	p.R17R	CDCA3_uc001qre.2_5'Flank|CDCA3_uc001qrg.2_5'Flank|USP5_uc001qrh.4_Silent_p.R17R	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	17					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACCGACGATCCGGGTCCCTAA	0.642000													4	36					0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16791230	16791230	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:16791230C>A	uc002nes.3	+	2	395	c.304C>A	c.(304-306)Ctg>Atg	p.L102M		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	102						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	p.L102L(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTTCTGCCCCCTGGACCTCTT	0.547000													12	514					0	0	1	0	0
SHMT1	6470	broad.mit.edu	37	17	18238957	18238957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:18238957C>A	uc002gta.3	-	7	1037	c.847G>T	c.(847-849)Gag>Tag	p.E283*	SHMT1_uc002gsz.3_Nonsense_Mutation_p.E58*|SHMT1_uc002gtb.3_Intron|SHMT1_uc010vxt.2_Nonsense_Mutation_p.E145*|SHMT1_uc002gtc.1_5'Flank|SHMT1_uc002gtd.1_Nonsense_Mutation_p.E283*	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	283					L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TACAGAATCTCTTTGCCAGTC	0.488000													8	234					0	0	1	0	0
CXCL9	4283	broad.mit.edu	37	4	76924788	76924788	+	Missense_Mutation	SNP	C	C	T	rs139830877		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:76924788C>T	uc003hjh.1	-	3	380	c.341G>A	c.(340-342)cGa>cAa	p.R114Q		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 9 (CXCL9), mRNA.	114					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular defense response|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity	p.R114Q(2)|p.R114*(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGAGATTTTCGAACTTTCAG	0.338000													7	88					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235459	127235459	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:127235459C>A	uc003vmd.2	+	1	462	c.243C>A	c.(241-243)acC>acA	p.T81T	FSCN3_uc003vmc.1_Silent_p.T36T|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.2_Silent_p.T81T	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	81						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GTGATGGCACCGTGTGTTATG	0.572000													4	66					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37948984	37948984	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:37948984C>A	uc001cbb.4	+	5	1722	c.1572C>A	c.(1570-1572)ccC>ccA	p.P524P	ZC3H12A_uc001cbc.1_Silent_p.P319P	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	524	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCCCCCACCCACATCAGTCC	0.667000													6	118					0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9662326	9662326	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:9662326C>A	uc021ofy.1	+	5	1213	c.1156C>A	c.(1156-1158)Cga>Aga	p.R386R	TMEM201_uc001apy.3_Silent_p.R386R|TMEM201_uc021ofz.1_Silent_p.R227R	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	Homo sapiens transmembrane protein 201 (TMEM201), transcript variant 1, mRNA.	386						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GTTCCGGCCCCGAAGGTCAGA	0.642000													4	20					0	0	1	0	0
FICD	11153	broad.mit.edu	37	12	108913035	108913035	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:108913035C>A	uc001tmx.1	+	2	1306	c.1160C>A	c.(1159-1161)cCg>cAg	p.P387Q		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Homo sapiens FIC domain containing (FICD), mRNA.	387	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						GCGGGCTACCCGCCCATCACC	0.562000													5	91					0	0	1	0	0
NKX2-5	1482	broad.mit.edu	37	5	172659608	172659608	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:172659608C>A	uc003mcm.2	-	1	1168	c.939G>T	c.(937-939)tcG>tcT	p.S313S	NKX2-5_uc010jjt.2_3'UTR|NKX2-5_uc011dfe.2_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	Homo sapiens NK2 homeobox 5 (NKX2-5), transcript variant 1, mRNA.	313					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGGACACTCCCGAGTTGCTCT	0.657000													4	50					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90482346	90482346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:90482346C>A	uc003pnn.1	-	13	2145	c.2029G>T	c.(2029-2031)Gga>Tga	p.G677*	MDN1_uc003pno.1_Nonsense_Mutation_p.G95*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	677					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCGGTCTCTCCCACCAGCAAC	0.517000													7	149					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48722904	48722904	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:48722904C>A	uc001zwx.2	-	55	7230	c.6835G>T	c.(6835-6837)Ggg>Tgg	p.G2279W	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2279	EGF-like 39; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGCTGATACCCGGGTCCACAG	0.473000													5	97					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107229970	107229970	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:107229970G>T	uc010ilv.2	-	1	513	c.148C>A	c.(148-150)Cat>Aat	p.H50N	TBCK_uc003hye.2_Missense_Mutation_p.H50N|TBCK_uc003hyc.2_Missense_Mutation_p.H50N|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Missense_Mutation_p.H50N	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	50	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGTCTGGGATGGGTGATGGTT	0.398000													6	115					0	0	1	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20873645	20873645	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:20873645C>A	uc002dhz.3	-	1	357	c.216G>T	c.(214-216)tcG>tcT	p.S72S	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	72					negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm		p.S72S(2)		NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CAGCATCTCCCGAGGACGTTG	0.582000													8	217					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47845347	47845347	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:47845347C>A	uc002xuh.3	+	7	956	c.895C>A	c.(895-897)Cga>Aga	p.R299R		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	299	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGTGCCCACCCGAGAGCTGGG	0.602000													5	124					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18688172	18688172	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:18688172C>A	uc003sui.3	+	9	1374	c.1333C>A	c.(1333-1335)Cgt>Agt	p.R445S	HDAC9_uc003sue.3_Missense_Mutation_p.R442S|HDAC9_uc011jyd.2_Missense_Mutation_p.R442S|HDAC9_uc003suh.3_Missense_Mutation_p.R442S|HDAC9_uc003suj.3_Missense_Mutation_p.R401S|HDAC9_uc011jya.2_Missense_Mutation_p.R440S|HDAC9_uc003sua.1_Missense_Mutation_p.R420S|HDAC9_uc003sud.2_Missense_Mutation_p.R442S|HDAC9_uc011jyc.2_Missense_Mutation_p.R401S|HDAC9_uc011jyb.2_Missense_Mutation_p.R398S|HDAC9_uc003suf.2_Missense_Mutation_p.R473S|HDAC9_uc010kud.2_Missense_Mutation_p.R445S|HDAC9_uc011jye.2_Missense_Mutation_p.R414S|HDAC9_uc011jyf.2_Missense_Mutation_p.R365S|HDAC9_uc010kue.1_Missense_Mutation_p.R185S	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	442					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAAATTGCCCCGTCACAGACC	0.488000													4	70					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171455819	171455819	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:171455819C>A	uc003fhs.3	-	1	370	c.23G>T	c.(22-24)cGg>cTg	p.R8L	PLD1_uc003fht.3_Missense_Mutation_p.R8L	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	8					Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.R8W(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGTATTTACCCGTGGCTCGTT	0.423000													5	67					0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43345034	43345034	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:43345034G>T	uc010rfh.1	+	5	771	c.598G>T	c.(598-600)Ggg>Tgg	p.G200W	API5_uc001mxf.2_Missense_Mutation_p.G200W|API5_uc010rfg.1_Missense_Mutation_p.G189W|API5_uc010rfi.1_Missense_Mutation_p.G146W|API5_uc021qgi.1_Intron|API5_uc001mxg.3_Missense_Mutation_p.G74W	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	200					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GATACTGTCTGGGTTAAAAAG	0.413000													5	95					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914338	31914338	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:31914338C>A	uc003nyj.4	+	1	531	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	CFB_uc011dor.2_Missense_Mutation_p.L587M|CFB_uc011dos.1_Missense_Mutation_p.L85M|CFB_uc003nyi.2_Missense_Mutation_p.L85M	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	85	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTGGAGCACCCTGAAGACTCA	0.577000													5	37					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78506126	78506126	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:78506126C>A	uc004akc.2	+	0	567	c.29C>A	c.(28-30)cCg>cAg	p.P10Q	PCSK5_uc004ajy.2_Missense_Mutation_p.P10Q|PCSK5_uc004ajz.3_Missense_Mutation_p.P10Q|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	10					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCTGCTGCCCGGGACGTTTG	0.682000													4	40					0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39114811	39114811	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:39114811C>A	uc003gtr.2	+	8	2281	c.1998C>A	c.(1996-1998)ccC>ccA	p.P666P	KLHL5_uc003gtp.3_Silent_p.P620P|KLHL5_uc003gtq.3_Silent_p.P479P|KLHL5_uc003gts.3_Silent_p.P666P|KLHL5_uc003gtt.3_Silent_p.P605P	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	666						cytoplasm|cytoskeleton	actin binding	p.P666P(2)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACGATGCTCCCGCATCCAACT	0.453000													5	98					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166008	140166008	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140166008G>A	uc003lhb.2	+	0	133	c.133G>A	c.(133-135)Gtt>Att	p.V45I	PCDHAC2_uc003lha.2_Missense_Mutation_p.V45I|PCDHAC2_uc003lgz.3_Missense_Mutation_p.V45I	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	58	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L44Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCACCTTCGTTGGCCGCGT	0.637000													20	64					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58231917	58231917	+	Missense_Mutation	SNP	C	C	A	rs140341109		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:58231917C>A	uc002qpz.4	-	3	1636	c.1537G>T	c.(1537-1539)Ggg>Tgg	p.G513W	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Missense_Mutation_p.G436W|ZNF671_uc010yhf.2_Missense_Mutation_p.G415W	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AATTCTCTCCCGCACTCACTA	0.502000													11	300					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391813	58391813	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:58391813G>T	uc001nna.4	+	1	501	c.421G>T	c.(421-423)Ggg>Tgg	p.G141W	CNTF_uc010rkm.2_Non-coding_Transcript	NM_000614	NP_000605	P26441	CNTF_HUMAN	Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.	141					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGAGGCTGATGGGATGCCTAT	0.483000													6	114					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527158	97527158	+	Silent	SNP	C	C	A	rs142956901		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:97527158C>A	uc002sxg.4	-	12	2097	c.1866G>T	c.(1864-1866)gcG>gcT	p.A622A	SEMA4C_uc002sxf.4_Silent_p.A69A|SEMA4C_uc002sxe.3_Silent_p.A110A|SEMA4C_uc002sxh.4_Silent_p.A569A	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	569	Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGTCTGTGCCCGCCACCACCG	0.622000													4	37					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724378	140724378	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140724378C>A	uc003ljm.2	+	0	778	c.778C>A	c.(778-780)Cgg>Agg	p.R260R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.R260R	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	260	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGTACCCGGCTGCTCAC	0.488000													4	71					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545452	196545452	+	Missense_Mutation	SNP	C	C	A	rs139926734	by1000genomes	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:196545452C>A	uc002utg.4	+	1	900	c.686C>A	c.(685-687)cCg>cAg	p.P229Q	SLC39A10_uc002uth.4_Missense_Mutation_p.P229Q|SLC39A10_uc010zgp.2_Intron	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	229					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GTTAAACTACCGAAAGGAAAG	0.413000													4	47					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100962584	100962584	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:100962584C>A	uc001pgh.2	-	2	2556	c.1813G>T	c.(1813-1815)Gga>Tga	p.G605*	PGR_uc001pgi.2_Nonsense_Mutation_p.G605*|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Intron	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	605					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)	TCATTTCTTCCAGCACATAAG	0.393000													4	26					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113166722	113166722	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:113166722G>A	uc010mtz.3	-	38	9888	c.9551C>T	c.(9550-9552)cCg>cTg	p.P3184L	SVEP1_uc010mty.3_Missense_Mutation_p.P1110L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3184	Sushi 30.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.P3187Q(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATGTTTTCCGGGAGAGGACA	0.433000													57	314					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22269054	22269054	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:22269054G>T	uc002dki.3	+	8	1477	c.992G>T	c.(991-993)cGg>cTg	p.R331L	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	331					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CTCTCGCCCCGGGAGAGGGAT	0.607000													5	137					0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122527	153122527	+	Silent	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:153122527C>T	uc021ozu.1	-	0	60	c.60G>A	c.(58-60)acG>acA	p.T20T	SPRR2G_uc009wod.2_Silent_p.T20T	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA.	20					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCACTTTGGCGTGGGGCACA	0.577000													13	122					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101528944	101528944	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:101528944C>A	uc002bwr.3	+	4	858	c.539C>A	c.(538-540)cCg>cAg	p.P180Q	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Missense_Mutation_p.P180Q	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	180					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGGCTGACCCGGAGAGCTAC	0.617000													4	60					0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39140304	39140304	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:39140304C>A	uc010cxh.1	-	2	383	c.222G>T	c.(220-222)gtG>gtT	p.V74V	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	74	Head.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CACAGTTCCCCACCAAGCAGG	0.547000													7	174					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86267606	86267606	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:86267606G>T	uc002sqs.3	-	24	4028	c.3649C>A	c.(3649-3651)Cag>Aag	p.Q1217K	POLR1A_uc010ytb.2_Missense_Mutation_p.Q583K|POLR1A_uc002sqt.1_Missense_Mutation_p.Q240K	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1217					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCGATGCTCTGGGCAGCCAGC	0.637000													4	37					0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109867181	109867181	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:109867181C>A	uc003ptn.2	-	25	3191	c.3114G>T	c.(3112-3114)gtG>gtT	p.V1038V	AKD1_uc011eat.1_Silent_p.V117V	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1038					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						ATTCAGGTCCCACTTTCTTTT	0.368000													6	105					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153677535	153677535	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:153677535C>A	uc003lvh.3	+	2	429	c.297C>A	c.(295-297)acC>acA	p.T99T	GALNT10_uc003lvg.1_Silent_p.T99T|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Silent_p.T2T	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	99						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			ACCCCATGACCGATGCTGAGA	0.448000													6	104					0	0	1	0	0
AP5S1	55317	broad.mit.edu	37	20	3802818	3802818	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:3802818G>T	uc002wju.2	+	1	305	c.54G>T	c.(52-54)acG>acT	p.T18T	AP5S1_uc002wjt.3_5'UTR|AP5S1_uc002wjs.2_Silent_p.T18T|AP5S1_uc021wab.1_Silent_p.T18T	NM_018347	NP_060817	Q9NUS5	CT029_HUMAN	Homo sapiens chromosome 20 open reading frame 29 (C20orf29), transcript variant 2, mRNA.	18					double-strand break repair via homologous recombination		protein binding	p.T18T(2)									CTGAGGACACGGGCCTTTGCC	0.607000													4	60					0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43294964	43294964	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:43294964C>A	uc003jnr.4	-	7	1113	c.906_splice	c.e7-1	p.G302_splice	HMGCS1_uc003jnp.4_5'UTR|HMGCS1_uc003jnq.4_Splice_Site_p.G302_splice	NM_001098272	NP_002121	Q01581	HMCS1_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) (HMGCS1), transcript variant 1, mRNA.	302					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TTTAACATCCCTGAAAGATTT	0.323000													7	87					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1805511	1805511	+	Silent	SNP	G	G	T	rs147833498	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:1805511G>T	uc003gdr.3	+	7	1279	c.1023G>T	c.(1021-1023)gcG>gcT	p.A341A	FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Silent_p.A341A|FGFR3_uc010icb.1_Silent_p.A149A|FGFR3_uc003gdt.1_Silent_p.A170A	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	341	Ig-like C2-type 3.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTGCCTGGCGGGCAATTCTA	0.602000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				4	62					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144894486	144894486	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:144894486C>A	uc003yzp.1	-	8	863	c.856G>T	c.(856-858)Ggg>Tgg	p.G286W	SCRIB_uc003yzo.1_Missense_Mutation_p.G286W	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	286	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCACAGTCCCCGATGGCCTCG	0.607000													5	114					0	0	1	0	0
AGPAT5	55326	broad.mit.edu	37	8	6605324	6605324	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:6605324G>T	uc003wqo.3	+	5	1032	c.720G>T	c.(718-720)caG>caT	p.Q240H	AGPAT5_uc011kwm.2_Intron|MIR4659B_uc022aqu.1_5'Flank	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) (AGPAT5), mRNA.	240					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		ATGGAGGGCAGCGAAGAGAGT	0.413000													8	78					0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62492985	62492985	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:62492985C>A	uc002jei.3	-	0	200	c.102G>T	c.(100-102)acG>acT	p.T34T	POLG2_uc010deg.2_Silent_p.T34T	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	34					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	p.T34M(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TACTCCTTTCCGTCAACAGCT	0.647000													5	107					0	0	1	0	0
TUBB6	84617	broad.mit.edu	37	18	12325516	12325516	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:12325516C>A	uc002kqw.3	+	3	763	c.728C>A	c.(727-729)cCg>cAg	p.P243Q	TUBB6_uc002kqv.3_Missense_Mutation_p.P171Q|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	243					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CTGCGCTTCCCGGGCCAGCTC	0.652000													5	86					0	0	1	0	0
PDIA3P	171423	broad.mit.edu	37	1	146649722	146649722	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:146649722G>T	uc001epg.1	+	0	293	c.30G>T	c.(28-30)ccG>ccT	p.P10P						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		CGCTGTTCCCGGGCGTGGCGC	0.741000													3	21					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7036055	7036055	+	Silent	SNP	C	C	A	rs147447578		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:7036055C>A	uc002knm.3	-	12	1864	c.1770G>T	c.(1768-1770)acG>acT	p.T590T	LAMA1_uc010wzj.2_Silent_p.T66T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	590	Laminin IV type A 1.				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)	CGTAGGACACCGTGTATTTCA	0.433000													4	66					0	0	1	0	0
GLT1D1	144423	broad.mit.edu	37	12	129467540	129467540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:129467540G>T	uc010tbh.1	+	12	970	c.961G>T	c.(961-963)Gga>Tga	p.G321*	GLT1D1_uc001uhx.1_Nonsense_Mutation_p.G236*|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	316					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CGTAGTGAACGGAAGGGAATA	0.443000													7	159					0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55144482	55144482	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:55144482C>A	uc010ooe.1	+	10	2328	c.2004C>A	c.(2002-2004)ccC>ccA	p.P668P	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Silent_p.P236P|HEATR8_uc010ood.1_Silent_p.P186P|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.P668P|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	668						integral to membrane	binding	p.G667W(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCCTGGGGCCCTACAACCCTG	0.577000													5	66					0	0	1	0	0
SGSH	6448	broad.mit.edu	37	17	78188556	78188556	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:78188556C>A	uc002jxz.4	-	3	451	c.364G>T	c.(364-366)Ggg>Tgg	p.G122W	SGSH_uc002jya.4_5'UTR|SGSH_uc002jxy.2_Missense_Mutation_p.G122W|SGSH_uc010wue.1_Silent_p.S133S	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	122			G -> R (in MPS3A; intermediate).		proteoglycan metabolic process	lysosome	N-sulfoglucosamine sulfohydrolase activity|metal ion binding|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCTTCTTCCCGATGATGCCT	0.617000													4	68					0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79253898	79253898	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:79253898G>T	uc002snw.3	+	2	221	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	REG3G_uc002snx.3_Missense_Mutation_p.A46S|REG3G_uc010ffu.3_Missense_Mutation_p.A46S	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	46					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGCTCCAAGGCCTATGGCTC	0.512000													12	58					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207112698	207112698	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:207112698G>T	uc001hez.3	-	2	338	c.154C>A	c.(154-156)Cgg>Agg	p.R52R	PIGR_uc009xbz.3_Silent_p.R52R	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	52	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGTACTTCCGGGTGTGCCGG	0.567000													6	67					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63885063	63885063	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:63885063C>A	uc021qks.1	+	0	1324	c.1324C>A	c.(1324-1326)Cac>Aac	p.H442N	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.H442N	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	414	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCTGGCCATCCACGTGAAGGC	0.657000													5	46					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51013254	51013254	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:51013254C>A	uc002lfe.2	+	25	4440	c.3824C>A	c.(3823-3825)cCg>cAg	p.P1275Q	DCC_uc010dpf.2_Missense_Mutation_p.P910Q	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1275					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P1275Q(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATCCCCACCCGCAGTTCACT	0.537000													5	132					0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77906909	77906909	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:77906909C>A	uc002bct.1	-	1	1392	c.1340G>T	c.(1339-1341)cGg>cTg	p.R447L	LINGO1_uc002bcu.1_Missense_Mutation_p.R441L	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 1 (LINGO1), mRNA.	447	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						GCCATCGGCCCGGCACACAAA	0.667000													3	16					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147486631	147486631	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:147486631G>T	uc003lox.2	+	16	1584	c.1511G>T	c.(1510-1512)aGg>aTg	p.R504M	SPINK5_uc010jgs.1_Missense_Mutation_p.R476M|SPINK5_uc010jgr.2_Missense_Mutation_p.R485M|SPINK5_uc003low.2_Missense_Mutation_p.R504M|SPINK5_uc003loy.2_Missense_Mutation_p.R504M	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	504	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCAAGTGAGGAATGGAACA	0.438000													6	115					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85636502	85636502	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:85636502C>A	uc003hpd.3	-	49	8318	c.7910G>T	c.(7909-7911)cGg>cTg	p.R2637L	WDFY3_uc003hpe.1_Missense_Mutation_p.R248L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2637						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAGGTAATTCCGTCCATCTCC	0.333000													6	102					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278578	36278578	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:36278578C>A	uc002obs.2	+	20	2772	c.2628C>A	c.(2626-2628)ccC>ccA	p.P876P	ARHGAP33_uc002obt.2_Silent_p.P873P|ARHGAP33_uc002obv.1_Silent_p.P625P	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1013	Poly-Pro.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCCCAGCCCCCAGGGAGTGCC	0.697000													6	64					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87531319	87531319	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:87531319C>A	uc002blz.1	+	23	3265	c.3185_splice	c.e23+1	p.P1062_splice		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	1062					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						catgtctccccgtgagtatgt	0.413000													7	180					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229382	8229382	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:8229382G>T	uc003gkv.4	+	11	2062	c.1961G>T	c.(1960-1962)cGg>cTg	p.R654L	SH3TC1_uc003gkw.4_Missense_Mutation_p.R578L|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	654							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCGCTGCGGCGGGCGGTGGGT	0.726000													4	22					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116720686	116720686	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:116720686C>A	uc011ebg.2	+	1	429	c.330C>A	c.(328-330)ccC>ccA	p.P110P	DSE_uc011ebf.1_Silent_p.P91P|DSE_uc003pwq.1_Silent_p.P91P|DSE_uc003pws.3_Silent_p.P91P|DSE_uc003pwt.3_Silent_p.P91P	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	91					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.L109F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCTGGGATCCCAAGGACTACA	0.562000													5	53					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409196	59409196	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:59409196G>T	uc003xtm.4	-	2	938	c.875C>A	c.(874-876)cCa>cAa	p.P292Q		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	292					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GAAAGTCGCTGGAATGGTGTT	0.403000									Neonatal Giant Cell Hepatitis				6	137					0	0	1	0	0
ARRDC1	92714	broad.mit.edu	37	9	140509084	140509084	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:140509084C>A	uc004cnp.2	+	6	943	c.869C>A	c.(868-870)cCa>cAa	p.P290Q	ARRDC1_uc004cns.3_Missense_Mutation_p.P290Q|ARRDC1_uc004cnx.2_Missense_Mutation_p.P165Q			Q8N5I2	ARRD1_HUMAN	Homo sapiens arrestin domain containing 1 (ARRDC1), mRNA.	290	Pro-rich.									breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AACCATGCCCCAGTGAGCCCC	0.662000													6	73					0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40692444	40692444	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:40692444C>A	uc003jlz.3	+	2	2023	c.1431C>A	c.(1429-1431)ccC>ccA	p.P477P		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	477					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TCACATTTCCCAGTGAAACAC	0.478000													5	56					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275976	186275976	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:186275976C>A	uc001gru.4	+	6	1176	c.1125C>A	c.(1123-1125)ccC>ccA	p.P375P	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.P334P|PRG4_uc009wyl.3_Silent_p.P282P|PRG4_uc009wym.3_Silent_p.P241P|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	375	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AGTCTGCACCCACCACCCCCA	0.637000													6	110					0	0	1	0	0
HMOX1	3162	broad.mit.edu	37	22	35783086	35783086	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:35783086C>A	uc003ant.2	+	2	660	c.553C>A	c.(553-555)Cgc>Agc	p.R185S		NM_002133	NP_002124	P09601	HMOX1_HUMAN	Homo sapiens heme oxygenase (decycling) 1 (HMOX1), mRNA.	185					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of chemokine biosynthetic process|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	CTACCGCTCCCGCATGAACTC	0.612000													5	116					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118363546	118363546	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:118363546G>T	uc001lco.1	+	10	1086	c.1068G>T	c.(1066-1068)tgG>tgT	p.W356C	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.W356C	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	356	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GTGCAGGCTGGAGATATGGGG	0.438000													4	29					0	0	1	0	0
POLR1C	9533	broad.mit.edu	37	6	43488045	43488045	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:43488045G>T	uc003ovn.3	+	5	606	c.535G>T	c.(535-537)Ggg>Tgg	p.G179W	POLR1C_uc003ovo.2_Missense_Mutation_p.G179W	NM_203290	NP_976035	O15160	RPAC1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide C, 30kDa (POLR1C), mRNA.	179					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GATCCCCCTGGGGAACCAGGC	0.522000													9	156					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1079550	1079550	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:1079550C>A	uc003jbu.3	-	9	1425	c.1359G>T	c.(1357-1359)acG>acT	p.T453T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	453					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	p.P452P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGATGGTCCCCGTGGGGATGG	0.592000													5	138					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156925522	156925522	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:156925522C>A	uc001fqo.3	-	18	2661	c.1621G>T	c.(1621-1623)Ggg>Tgg	p.G541W	ARHGEF11_uc001fqn.3_Missense_Mutation_p.G581W|ARHGEF11_uc001fqp.1_Missense_Mutation_p.G70W	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	541					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|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)					TTGGGCTTCCCAATGTATTTG	0.493000													11	427					0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110465570	110465570	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:110465570G>T	uc001tpx.3	+	9	1204	c.945_splice	c.e9+1	p.G315_splice	ANKRD13A_uc009zvl.1_Splice_Site|ANKRD13A_uc010sxw.2_Splice_Site_p.G314_splice|ANKRD13A_uc001tpy.3_Splice_Site|ANKRD13A_uc001tpz.3_5'Flank|ANKRD13A_uc001tqa.3_5'Flank	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	Homo sapiens ankyrin repeat domain 13A (ANKRD13A), mRNA.	315										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GGTGCACAAGGGGTAAGTTGA	0.443000													6	96					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919737	12919737	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:12919737C>A	uc001aum.1	+	2	564	c.477C>A	c.(475-477)ccC>ccA	p.P159P		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	159								p.P159P(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAAATACCCCAGGATGAAT	0.488000													12	471					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698033	111698033	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:111698033G>A	uc022cct.1	+	0	77	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	ZCCHC16_uc004epo.1_Missense_Mutation_p.R26Q	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	26							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGATTCTGCGGCTTCAAATG	0.507000													14	44					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796817	93796817	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:93796817C>A	uc001pep.2	+	2	716	c.559C>A	c.(559-561)Cat>Aat	p.H187N		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	187	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTGGGTGTACCATTCGCACAT	0.542000													21	112					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20219807	20219807	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:20219807G>T	uc003cbu.3	-	3	527	c.372C>A	c.(370-372)ccC>ccA	p.P124P	SGOL1_uc003cbw.3_Silent_p.P124P|SGOL1_uc003cbv.3_Silent_p.P124P|SGOL1_uc003cbt.3_Silent_p.P124P|SGOL1_uc010hfa.3_Silent_p.P124P|SGOL1_uc003cbs.3_Silent_p.P124P|SGOL1_uc003cbr.3_Silent_p.P124P|SGOL1_uc003ccc.3_Silent_p.P124P|SGOL1_uc021wtx.1_Silent_p.P3P|SGOL1_uc021wty.1_Silent_p.P3P|SGOL1_uc003ccb.3_Silent_p.P124P|SGOL1_uc003cca.3_Silent_p.P124P|SGOL1_uc003cby.3_Silent_p.P124P|SGOL1_uc003cbx.3_Silent_p.P124P|SGOL1_uc003cbz.3_Silent_p.P124P	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	124	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CATCACTATTGGGGTCCATTC	0.299000													6	109					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128509	56128509	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:56128509C>A	uc010rjh.2	+	0	819	c.787C>A	c.(787-789)Cga>Aga	p.R263R		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P262P(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGTGCAGCCCCGAAGTAACCA	0.403000													5	116					0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27231904	27231904	+	Silent	SNP	C	C	A	rs144555722	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:27231904C>A	uc010vcn.1	+	7	1336	c.1218C>A	c.(1216-1218)ccC>ccA	p.P406P	KDM8_uc002doh.2_Silent_p.P368P|KDM8_uc010bxw.2_Silent_p.P172P|KDM8_uc010bxx.2_Non-coding_Transcript	NM_001145348	NP_079049	Q8N371	KDM8_HUMAN	Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.	368	JmjC.				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										TGGAGAATCCCGACCTGGAAA	0.562000													7	208					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061705	38061705	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:38061705C>G	uc001wuf.3	-	1	596	c.284G>C	c.(283-285)aGc>aCc	p.S95T	FOXA1_uc010tpz.2_Missense_Mutation_p.S62T	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	95					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGCAGTCATGCTGTTCATGGC	0.721000													12	35					0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129642	1129642	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:1129642G>T	uc021taf.1	+	1	845	c.774G>T	c.(772-774)gcG>gcT	p.A258A	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.A258A	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	258					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TGGTGTTTGCGGGATGTTGGC	0.682000													4	49					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98218641	98218641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:98218641C>A	uc004avk.4	-	18	3411	c.3223G>T	c.(3223-3225)Gga>Tga	p.G1075*	PTCH1_uc010mro.3_Nonsense_Mutation_p.G924*|PTCH1_uc010mrp.3_Nonsense_Mutation_p.G924*|PTCH1_uc010mrq.3_Nonsense_Mutation_p.G924*|PTCH1_uc004avl.4_Nonsense_Mutation_p.G924*|PTCH1_uc004avm.4_Nonsense_Mutation_p.G1074*|PTCH1_uc010mrr.3_Nonsense_Mutation_p.G1009*	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1075					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V1057_L1102del(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGCTTGATTCCGATGAGGCCC	0.582000													4	62					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118483101	118483101	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:118483101G>T	uc010jcl.1	+	16	3028	c.2847G>T	c.(2845-2847)atG>atT	p.M949I	DMXL1_uc003ksd.2_Missense_Mutation_p.M949I|DMXL1_uc021ycw.1_Missense_Mutation_p.M776I	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	949										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTTCAGAAATGGTTTATAGCC	0.363000													5	62					0	0	1	0	0
LTBR	4055	broad.mit.edu	37	12	6494519	6494519	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:6494519C>A	uc001qny.1	+	3	614	c.446C>A	c.(445-447)cCg>cAg	p.P149Q	LTBR_uc010sfc.1_Missense_Mutation_p.P130Q|LTBR_uc001qnz.1_Missense_Mutation_p.P144Q	NM_002342	NP_002333	P36941	TNR3_HUMAN	Homo sapiens lymphotoxin beta receptor (TNFR superfamily, member 3) (LTBR), mRNA.	149					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	p.C148F(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						TCTGACTGCCCGCCTGGCACT	0.597000													4	34					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	251704	251704	+	Frame_Shift_Del	DEL	G	-	-	rs111797600	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:251704delG	uc011clv.1	+	12	2030	c.1915delG	c.(1915-1917)gccfs	p.A639fs	SDHA_uc003jao.4_Intron|SDHA_uc011clw.2_Intron|SDHA_uc003jaq.4_Intron|SDHA_uc021xvu.1_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	0					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCCAAAAAATGCCTTTTTCCC	0.517									Familial Paragangliomas				3	5	---	---	---	---					
OLIG3	167826	broad.mit.edu	37	6	137815210	137815212	+	In_Frame_Del	DEL	TGG	-	-			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:137815210_137815212delTGG	uc003qhp.1	-	0	320_322	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	32	Poly-His.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596													8	124	---	---	---	---					
