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
SYT9	143425	broad.mit.edu	37	11	7324274	7324274	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:7324274C>G	ENST00000318881.6	+	2	387	c.150C>G	c.(148-150)atC>atG	p.I50M	SYT9_ENST00000396716.2_Missense_Mutation_p.I18M	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	50						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.I50I(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTGCAGATATCTCAGTGAGCC	0.542000													25	71					0	0	0.004656	0	0
DEPDC5	9681	broad.mit.edu	37	22	32193597	32193597	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr22:32193597A>T	ENST00000400246.1	+	13	921	c.779A>T	c.(778-780)cAg>cTg	p.Q260L	DEPDC5_ENST00000535622.1_Missense_Mutation_p.Q260L|DEPDC5_ENST00000400242.3_Missense_Mutation_p.Q260L|DEPDC5_ENST00000400248.1_Missense_Mutation_p.Q260L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.Q260L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.Q260L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.Q260L|DEPDC5_ENST00000382112.3_Missense_Mutation_p.Q260L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.Q260L|DEPDC5_ENST00000536766.1_Missense_Mutation_p.Q232L			O75140	DEPD5_HUMAN	DEP domain containing 5	260					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTGGTGGTGCAGAATGAGAGA	0.413000													14	42					0	0	0.003163	0	0
ROBO4	54538	broad.mit.edu	37	11	124766430	124766430	+	Silent	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:124766430G>T	ENST00000306534.3	-	3	1022	c.537C>A	c.(535-537)gcC>gcA	p.A179A	ROBO4_ENST00000533054.1_Silent_p.A34A|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	179	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CGGGCTGGAGGGCCAGGGGTT	0.637000													11	120					7.03913e-09	8.17737e-09	0.001368	1	0
NET1	10276	broad.mit.edu	37	10	5471146	5471146	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:5471146G>C	ENST00000355029.4	+	3	351	c.209G>C	c.(208-210)aGa>aCa	p.R70T	NET1_ENST00000542715.1_5'UTR	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	70	Necessary for nuclear localization (By similarity).				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGAAAACGCAGAGAGAAAGAT	0.328000													8	48					0	0	0.006214	0	0
CR1L	1379	broad.mit.edu	37	1	207868041	207868041	+	Silent	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:207868041T>C	ENST00000508064.2	+	5	867	c.807T>C	c.(805-807)caT>caC	p.H269H	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	269	Sushi 4.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCCCTCCCATGTGAAGTGCC	0.498000													62	148					0	0	0.003610	0	0
ADAM12	8038	broad.mit.edu	37	10	127806655	127806655	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:127806655G>A	ENST00000368679.4	-	6	873	c.564C>T	c.(562-564)ctC>ctT	p.L188L	ADAM12_ENST00000368676.4_Silent_p.L188L	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	188					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TCTTTGCAGCGAGGTTTGGTG	0.478000													52	73					0	0	0.003610	0	0
LLGL2	3993	broad.mit.edu	37	17	73566162	73566162	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:73566162G>A	ENST00000392550.3	+	15	1817	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H	LLGL2_ENST00000167462.5_Missense_Mutation_p.R567H|LLGL2_ENST00000577200.1_Missense_Mutation_p.R567H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	567					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTGGCAGCCCGCTCAGGGCCC	0.672000													12	15					0	0	0.010729	0	0
UGT1A7	54577	broad.mit.edu	37	2	234590805	234590805	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:234590805G>A	ENST00000373426.3	+	1	222	c.222G>A	c.(220-222)gtG>gtA	p.V74V	UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATTGCACAGTGAAGACTTACT	0.527000													24	181					0	0	0.003330	0	0
FMN2	56776	broad.mit.edu	37	1	240255892	240255892	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:240255892G>T	ENST00000319653.9	+	1	713	c.483G>T	c.(481-483)gaG>gaT	p.E161D		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	161					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGATCGCCGAGGATGTGGAAA	0.647000													12	43					0.00010058	0.000106222	0.001368	1	0
LDLRAD1	388633	broad.mit.edu	37	1	54474683	54474683	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:54474683G>A	ENST00000371360.1	-	6	607	c.590C>T	c.(589-591)tCc>tTc	p.S197F	LDLRAD1_ENST00000420619.1_Missense_Mutation_p.S158F|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.S108F|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.S154F	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	197	LDL-receptor class A 3; atypical.					integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						ATACTCATCGGACCAGTCGGA	0.572000													20	106					0	0	0.010504	0	0
CACNA1D	776	broad.mit.edu	37	3	53810922	53810922	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:53810922T>A	ENST00000288139.3	+	38	4704	c.4586T>A	c.(4585-4587)cTt>cAt	p.L1529H	CACNA1D_ENST00000540742.1_Missense_Mutation_p.L401H|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L1494H|CACNA1D_ENST00000350061.5_Missense_Mutation_p.L1509H	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1509					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTCACTCTGCTTCGACGCATC	0.522000													11	25					0	0	0.001368	0	0
OR8D4	338662	broad.mit.edu	37	11	123777260	123777260	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:123777260G>T	ENST00000321355.2	+	1	152	c.122G>T	c.(121-123)gGa>gTa	p.G41V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ACTGTGGTGGGAAACCTCAGC	0.408000													26	101					2.48779e-11	2.97881e-11	0.005443	1	0
ZBBX	79740	broad.mit.edu	37	3	167000157	167000157	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:167000157G>T	ENST00000392766.2	-	19	2346	c.2006C>A	c.(2005-2007)gCt>gAt	p.A669D	ZBBX_ENST00000307529.5_Missense_Mutation_p.A708D|ZBBX_ENST00000392764.1_Missense_Mutation_p.A640D|ZBBX_ENST00000455345.2_Missense_Mutation_p.A708D|ZBBX_ENST00000392767.2_Missense_Mutation_p.A669D	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	669	Ser-rich.					intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTCAGAAGCAGCTCTAGATGA	0.373000													16	67					6.31663e-08	7.17022e-08	0.003163	1	0
ZNF461	92283	broad.mit.edu	37	19	37130289	37130289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:37130289G>A	ENST00000588268.1	-	6	1185	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	ZNF461_ENST00000360357.4_Nonsense_Mutation_p.Q297*|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGAAGTCTCTGATGTTGAGTA	0.413000													8	30					0	0	0.003080	0	0
ZFP91	80829	broad.mit.edu	37	11	58378469	58378469	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:58378469G>C	ENST00000316059.6	+	5	835	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E222Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	222	Glu-rich.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AATCAGTGAAGAGGAGATACC	0.373000													11	30					0	0	0.001855	0	0
SALL1	6299	broad.mit.edu	37	16	51174068	51174068	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr16:51174068A>G	ENST00000440970.1	-	2	2205	c.1774T>C	c.(1774-1776)Tcc>Ccc	p.S592P	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S689P	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	689					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGAAGCTTGGACGTCTCTGAT	0.542000													40	112					0	0	0.007835	0	0
HIVEP3	59269	broad.mit.edu	37	1	42041248	42041248	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:42041248C>A	ENST00000372584.1	-	4	6188	c.5174G>T	c.(5173-5175)gGg>gTg	p.G1725V	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G1725V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G1725V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G1725V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1725					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGCCGGCTCCCCTCTCTGGGA	0.547000													35	150					4.65686e-17	5.87217e-17	0.003755	1	0
OR3A2	4995	broad.mit.edu	37	17	3181738	3181738	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:3181738G>T	ENST00000408891.2	-	1	530	c.492C>A	c.(490-492)aaC>aaA	p.N164K		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	164					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GGGTCAGTGCGTTGGTGAAGG	0.582000													57	63					2.18419e-29	2.89459e-29	0.003610	1	0
DCBLD2	131566	broad.mit.edu	37	3	98520492	98520492	+	Splice_Site	SNP	T	T	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:98520492T>G	ENST00000326840.6	-	14	2034	c.1670_splice	c.e14-1	p.K558_splice	DCBLD2_ENST00000326857.9_Splice_Site_p.K558_splice	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	558					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTTTTTTTCTTTCTGGAAAAA	0.468000													3	10					0	0	0.009096	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919733	142919733	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:142919733G>C	ENST00000408947.3	+	1	604	c.562G>C	c.(562-564)Gag>Cag	p.E188Q		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	188					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GTACTTCTCTGAGACCAATAT	0.463000													9	72					0	0	0.004482	0	0
KLHL5	51088	broad.mit.edu	37	4	39105076	39105076	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:39105076C>T	ENST00000261425.3	+	8	1622	c.1470C>T	c.(1468-1470)ccC>ccT	p.P490P	KLHL5_ENST00000508137.2_Silent_p.P349P|KLHL5_ENST00000504108.1_Silent_p.P536P|KLHL5_ENST00000381930.3_Silent_p.P536P|KLHL5_ENST00000359687.2_Silent_p.P536P|KLHL5_ENST00000261426.5_Silent_p.P475P	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	536						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GCTACAACCCCAAAACAAAAA	0.443000													13	93					0	0	0.004007	0	0
NEK10	152110	broad.mit.edu	37	3	27161315	27161315	+	Silent	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:27161315T>A	ENST00000429845.2	-	36	3659	c.3297A>T	c.(3295-3297)acA>acT	p.T1099T	NEK10_ENST00000383770.3_Silent_p.T354T|NEK10_ENST00000383771.4_Silent_p.T401T|NEK10_ENST00000295720.6_Silent_p.T411T			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	1099							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGTAATCTGCTGTGAAAAAGT	0.423000													10	59					0	0	0.008291	0	0
SLC25A41	284427	broad.mit.edu	37	19	6427134	6427134	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:6427134C>A	ENST00000321510.6	-	6	988	c.920G>T	c.(919-921)cGc>cTc	p.R307L		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	307					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						CATCCTGGTGCGCACCAGAGT	0.632000													4	8					0.000602214	0.000627498	0.000602	1	0
CHMP5	51510	broad.mit.edu	37	9	33266023	33266023	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:33266023G>C	ENST00000419016.2	+	2	125	c.85G>C	c.(85-87)Gaa>Caa	p.E29Q	CHMP5_ENST00000223500.8_Missense_Mutation_p.E29Q	NM_001195536.1	NP_001182465.1	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	29					cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			CAGTAGAGCAGAATCCATTGA	0.448000													16	26					0	0	0.004990	0	0
SYNE1	23345	broad.mit.edu	37	6	152605206	152605206	+	Silent	SNP	C	C	A	rs149923357	byFrequency	TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:152605206C>A	ENST00000367255.5	-	96	18715	c.18114G>T	c.(18112-18114)gcG>gcT	p.A6038A	SYNE1_ENST00000265368.4_Silent_p.A6038A|SYNE1_ENST00000423061.1_Silent_p.A5967A|SYNE1_ENST00000341594.5_Silent_p.A5650A|SYNE1_ENST00000448038.1_Silent_p.A5967A|SYNE1_ENST00000356820.4_Silent_p.A562A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6038					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.A6038A(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGCTGCTCCGCAGGGTCGG	0.552000										HNSCC(10;0.0054)			38	31					3.61848e-18	4.58397e-18	0.007835	1	0
SAMD9L	219285	broad.mit.edu	37	7	92764557	92764557	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:92764557T>C	ENST00000318238.4	-	5	1944	c.728A>G	c.(727-729)gAc>gGc	p.D243G	SAMD9L_ENST00000437805.1_Missense_Mutation_p.D243G|SAMD9L_ENST00000411955.1_Missense_Mutation_p.D243G	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	243										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGGGGTTTGTCCTTGACTCC	0.398000													31	47					0	0	0.009535	0	0
TRANK1	9881	broad.mit.edu	37	3	36893753	36893753	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:36893753C>T	ENST00000429976.2	-	13	4748	c.4501G>A	c.(4501-4503)Ggc>Agc	p.G1501S	TRANK1_ENST00000428977.2_Missense_Mutation_p.G951S|TRANK1_ENST00000301807.6_Missense_Mutation_p.G951S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1501					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCAAAGAGGCCAGAATCCCTT	0.438000													9	19					0	0	0.004482	0	0
HDAC9	9734	broad.mit.edu	37	7	18767262	18767262	+	Silent	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:18767262G>T	ENST00000406451.3	+	13	1932	c.1782G>T	c.(1780-1782)gcG>gcT	p.A594A	HDAC9_ENST00000401921.1_Silent_p.A553A|HDAC9_ENST00000432645.2_Silent_p.A594A|HDAC9_ENST00000441542.2_Silent_p.A597A	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	594					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CGCTGGCTGCGGTTGGCATGG	0.567000													10	10					9.70103e-10	1.13909e-09	0.008291	1	0
TBCCD1	55171	broad.mit.edu	37	3	186274291	186274291	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:186274291G>C	ENST00000424280.1	-	4	1245	c.766C>G	c.(766-768)Ctg>Gtg	p.L256V	TBCCD1_ENST00000446782.1_Missense_Mutation_p.L160V|TBCCD1_ENST00000338733.5_Missense_Mutation_p.L256V	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	256					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CAGGTTTCCAGTTTGTAGAAA	0.443000													8	52					0	0	0.003080	0	0
LILRA6	79168	broad.mit.edu	37	19	54744411	54744411	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:54744411G>T	ENST00000419410.2	-	6	998	c.997C>A	c.(997-999)Ccc>Acc	p.P333T	LILRA6_ENST00000245621.5_Missense_Mutation_p.P333T|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.P333T|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCACTGTGGGGCCCGGCTGT	0.592000													33	48					1.07121e-22	1.38926e-22	0.006999	1	0
CHRDL1	91851	broad.mit.edu	37	X	109964630	109964630	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:109964630T>A	ENST00000218054.4	-	5	623	c.427A>T	c.(427-429)Acc>Tcc	p.T143S	CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000372045.1_Missense_Mutation_p.T137S|CHRDL1_ENST00000372042.1_Missense_Mutation_p.T144S|CHRDL1_ENST00000444321.2_Missense_Mutation_p.T143S|CHRDL1_ENST00000394797.4_Missense_Mutation_p.T143S|CHRDL1_ENST00000434224.1_Intron	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	137	VWFC 2.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CTGCACTGGGTGCATTGATTG	0.478000													112	69					0	0	0.003610	0	0
DPPA4	55211	broad.mit.edu	37	3	109049546	109049546	+	Silent	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:109049546C>A	ENST00000335658.6	-	5	558	c.504G>T	c.(502-504)gtG>gtT	p.V168V	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	168						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GAGGAAGAGCCACTTCAGGAG	0.498000													20	65					4.35082e-09	5.06513e-09	0.010504	1	0
USP34	9736	broad.mit.edu	37	2	61622131	61622131	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:61622131C>G	ENST00000398571.2	-	5	686	c.610G>C	c.(610-612)Gaa>Caa	p.E204Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	204					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AATGGTACTTCTACATCCTGG	0.323000													12	7					0	0	0.010729	0	0
CA9	768	broad.mit.edu	37	9	35675908	35675908	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:35675908T>G	ENST00000378357.4	+	3	688	c.584T>G	c.(583-585)cTg>cGg	p.L195R		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	195	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GAACTGCGCCTGCGCAACAAT	0.731000													16	60					0	0	0.006122	0	0
OXCT1	5019	broad.mit.edu	37	5	41870434	41870434	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:41870434G>A	ENST00000196371.5	-	1	187	c.27C>T	c.(25-27)tcC>tcT	p.S9S	OXCT1-AS1_ENST00000508458.1_RNA	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	9					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GCCGAAGCCCGGAGGAGAGGA	0.652000													6	24					0	0	0.001984	0	0
PTH2R	5746	broad.mit.edu	37	2	209302497	209302497	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:209302497G>A	ENST00000272847.2	+	4	515	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	101						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GTTGCTTTCCGACACTGTAAC	0.388000													42	19					0	0	0.013114	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044277	90044277	+	RNA	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:90044277C>A	ENST00000462693.1	+	0	228																											AGAGGCCAGGCCAGCCTCCAA	0.522000													14	174					1.3612e-06	1.51368e-06	0.003163	1	0
LILRA4	23547	broad.mit.edu	37	19	54849257	54849257	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:54849257G>T	ENST00000291759.4	-	4	661	c.605C>A	c.(604-606)aCc>aAc	p.T202N		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	202	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CACGTATGGGGTGTTGTTTTC	0.552000													42	21					1.03325e-14	1.27926e-14	0.011902	1	0
PDLIM3	27295	broad.mit.edu	37	4	186425632	186425632	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:186425632A>G	ENST00000284770.5	-	7	975	c.902T>C	c.(901-903)aTa>aCa	p.I301T	PDLIM3_ENST00000284771.6_Missense_Mutation_p.I253T|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	301	LIM zinc-binding.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		AACTTACACTATGCCACTCCC	0.493000													9	28					0	0	0.006214	0	0
TRPS1	7227	broad.mit.edu	37	8	116632237	116632237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr8:116632237C>A	ENST00000395715.3	-	3	665	c.88G>T	c.(88-90)Gag>Tag	p.E30*	TRPS1_ENST00000519674.1_Nonsense_Mutation_p.E17*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.E21*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.E17*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.E17*	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	17					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E30Q(1)|p.E17Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATCTGGCCCTCGCCTTCACTT	0.438000									Langer-Giedion syndrome				26	44					1.39806e-14	1.72701e-14	0.008361	1	0
DCBLD2	131566	broad.mit.edu	37	3	98538181	98538181	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:98538181C>G	ENST00000326840.6	-	8	1314	c.952G>C	c.(952-954)Gac>Cac	p.D318H	DCBLD2_ENST00000326857.9_Missense_Mutation_p.D318H	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	318	F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CCTGTGTGGTCAGTCCACTCC	0.483000													8	40					0	0	0.006214	0	0
DSCAML1	57453	broad.mit.edu	37	11	117392000	117392000	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:117392000T>G	ENST00000321322.6	-	6	1239	c.1238A>C	c.(1237-1239)gAg>gCg	p.E413A	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E143A	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	353	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CAGCACCAGCTCCGTGTTGCG	0.627000													41	71					0	0	0.006999	0	0
EXT2	2132	broad.mit.edu	37	11	44129289	44129289	+	Silent	SNP	C	C	T	rs149841763		TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:44129289C>T	ENST00000395673.3	+	2	182	c.126C>T	c.(124-126)atC>atT	p.I42I	EXT2_ENST00000343631.3_Silent_p.I9I|EXT2_ENST00000533608.1_Silent_p.I9I|EXT2_ENST00000358681.4_Silent_p.I9I	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	9			M -> V (in dbSNP:rs4755779).		glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.I9I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						AGTATAATATCCGGGGTCCTG	0.483000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				16	76					0	0	0.004007	0	0
RSPH9	221421	broad.mit.edu	37	6	43638551	43638551	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:43638551G>A	ENST00000372165.4	+	6	801	c.748G>A	c.(748-750)Ggg>Agg	p.G250R	RSPH9_ENST00000372163.4_Silent_p.R232R	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AGATGGAGAGGGGCAATGCCC	0.632000									Kartagener syndrome				5	69					0	0	0.000602	0	0
ZNF227	7770	broad.mit.edu	37	19	44739918	44739918	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:44739918C>G	ENST00000313040.7	+	6	1540	c.1335C>G	c.(1333-1335)ttC>ttG	p.F445L	ZNF227_ENST00000589005.1_Missense_Mutation_p.F394L|ZNF227_ENST00000391961.2_Missense_Mutation_p.F394L	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GTAAGGGCTTCAGCCACAATT	0.483000													37	73					0	0	0.004878	0	0
SLC15A1	6564	broad.mit.edu	37	13	99340768	99340768	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr13:99340768G>A	ENST00000376503.5	-	19	1585	c.1530C>T	c.(1528-1530)atC>atT	p.I510I		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	510					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TGTAGCTGCTGATGTTTGCAT	0.368000													11	35					0	0	0.008291	0	0
WDR1	9948	broad.mit.edu	37	4	10079485	10079485	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:10079485C>A	ENST00000382452.2	-	13	1743	c.1461G>T	c.(1459-1461)gaG>gaT	p.E487D	WDR1_ENST00000382451.2_Missense_Mutation_p.E347D|WDR1_ENST00000499869.2_Missense_Mutation_p.E487D|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Missense_Mutation_p.E347D	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	487					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GGCCCTTGGCCTCTAGGAGCT	0.647000													8	12					1.76689e-08	2.04391e-08	0.006214	1	0
RAPGEF1	2889	broad.mit.edu	37	9	134525549	134525549	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:134525549G>A	ENST00000372195.1	-	3	525	c.282C>T	c.(280-282)acC>acT	p.T94T	RAPGEF1_ENST00000372189.3_Silent_p.T77T|RAPGEF1_ENST00000372190.3_Silent_p.T95T			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	77					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCACAGCACTGGTGGACATAA	0.502000													9	12					0	0	0.006214	0	0
ZNF227	7770	broad.mit.edu	37	19	44740270	44740270	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:44740270C>G	ENST00000313040.7	+	6	1892	c.1687C>G	c.(1687-1689)Ctt>Gtt	p.L563V	ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000589005.1_Missense_Mutation_p.L512V|ZNF227_ENST00000391961.2_Missense_Mutation_p.L512V	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TAGTTCAAATCTTAAACTACA	0.408000													24	42					0	0	0.003330	0	0
ANKRD35	148741	broad.mit.edu	37	1	145560150	145560150	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:145560150G>A	ENST00000355594.4	+	8	723	c.636G>A	c.(634-636)gcG>gcA	p.A212A	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	212										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGCTGACGCGGGGGCTGTGG	0.607000													8	58					0	0	0.003080	0	0
OR4E2	26686	broad.mit.edu	37	14	22133935	22133935	+	Silent	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:22133935C>G	ENST00000408935.1	+	1	639	c.639C>G	c.(637-639)gcC>gcG	p.A213A		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTCTTGGCCGTGGTCACCT	0.512000													26	39					0	0	0.006320	0	0
CCDC132	55610	broad.mit.edu	37	7	92923899	92923899	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:92923899G>T	ENST00000544910.1	+	15	1248	c.1028G>T	c.(1027-1029)cGt>cTt	p.R343L	CCDC132_ENST00000305866.5_Missense_Mutation_p.R373L|CCDC132_ENST00000317751.6_Missense_Mutation_p.R104L|CCDC132_ENST00000541136.1_Missense_Mutation_p.R184L|CCDC132_ENST00000535481.1_Missense_Mutation_p.R93L	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	373										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTTTGATCGTGGCTACATA	0.274000													16	74					8.34094e-07	9.31319e-07	0.008871	1	0
TNRC6B	23112	broad.mit.edu	37	22	40658159	40658159	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr22:40658159G>A	ENST00000454349.2	+	4	650	c.439G>A	c.(439-441)Gag>Aag	p.E147K	TNRC6B_ENST00000402203.1_Missense_Mutation_p.E183K|TNRC6B_ENST00000335727.8_Missense_Mutation_p.E147K|TNRC6B_ENST00000301923.9_Missense_Mutation_p.E183K	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	147					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GCTGCAGAGTGAGAGTGGGAC	0.572000													4	13					0	0	0.009096	0	0
JARID2	3720	broad.mit.edu	37	6	15496899	15496899	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:15496899G>A	ENST00000341776.2	+	7	1687	c.1443G>A	c.(1441-1443)ctG>ctA	p.L481L	JARID2_ENST00000397311.3_Silent_p.L309L|JARID2_ENST00000541660.1_Silent_p.L443L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	481					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAGGTCTGCTGAACGGACACG	0.672000													6	25					0	0	0.001984	0	0
EFCAB6	64800	broad.mit.edu	37	22	44022376	44022376	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr22:44022376A>C	ENST00000262726.7	-	20	2669	c.2416T>G	c.(2416-2418)Tgt>Ggt	p.C806G	EFCAB6_ENST00000396231.2_Missense_Mutation_p.C654G	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	806					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTCTTCTCACACAAATTTTGA	0.453000													16	29					0	0	0.003163	0	0
THEMIS	387357	broad.mit.edu	37	6	128134390	128134390	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:128134390G>T	ENST00000368250.1	-	5	1657	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	THEMIS_ENST00000543064.1_Missense_Mutation_p.L466I|THEMIS_ENST00000368248.2_Missense_Mutation_p.L466I|THEMIS_ENST00000537166.1_Missense_Mutation_p.L431I			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	466	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCAATGGAAAGATCCCTGACA	0.468000													15	59					2.62699e-14	3.23049e-14	0.003163	1	0
USP11	8237	broad.mit.edu	37	X	47104483	47104483	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:47104483G>A	ENST00000377107.2	+	16	2509	c.2155G>A	c.(2155-2157)Gag>Aag	p.E719K	USP11_ENST00000218348.3_Missense_Mutation_p.E762K			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	762					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GGTAGAGGCTGAGGTAAATGA	0.557000													3	6					0	0	0.004672	0	0
ABHD14B	84836	broad.mit.edu	37	3	52004084	52004084	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:52004084G>A	ENST00000315877.10	-	5	1015	c.322C>T	c.(322-324)Cca>Tca	p.P108S	RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000487005.1_5'UTR|ABHD14B_ENST00000395008.2_Missense_Mutation_p.P110S|ABHD14B_ENST00000483233.1_Missense_Mutation_p.P110S|ABHD14B_ENST00000525795.1_Missense_Mutation_p.P110S|ABHD14B_ENST00000461108.1_Missense_Mutation_p.P110S|ABHD14B_ENST00000361143.5_Missense_Mutation_p.P110S			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	110						cytoplasm|nucleus	hydrolase activity			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		CTCAGTGATGGACTGATCACA	0.647000													14	33					0	0	0.001855	0	0
ZNF479	90827	broad.mit.edu	37	7	57188633	57188633	+	Silent	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:57188633G>T	ENST00000331162.4	-	5	759	c.489C>A	c.(487-489)gtC>gtA	p.V163V		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CAAAGACTTTGACATATTTAT	0.308000													13	37					8.60227e-14	1.05075e-13	0.004007	1	0
SUCLA2	8803	broad.mit.edu	37	13	48528386	48528386	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr13:48528386C>A	ENST00000378654.3	-	8	1052	c.996G>T	c.(994-996)atG>atT	p.M332I	SUCLA2_ENST00000534875.1_Missense_Mutation_p.M274I|SUCLA2_ENST00000544100.1_Missense_Mutation_p.M198I|SUCLA2_ENST00000543413.1_Missense_Mutation_p.M274I	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	332					succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TTATTATATCCATTGTGGCCA	0.368000													11	50					3.27435e-08	3.73235e-08	0.002450	1	0
CSMD3	114788	broad.mit.edu	37	8	113304782	113304782	+	Silent	SNP	A	A	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr8:113304782A>C	ENST00000297405.5	-	55	9016	c.8772T>G	c.(8770-8772)ccT>ccG	p.P2924P	CSMD3_ENST00000352409.3_Silent_p.P2854P|CSMD3_ENST00000455883.2_Silent_p.P2755P|CSMD3_ENST00000343508.3_Silent_p.P2884P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2924	Sushi 19.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACATAGGTGGAGGATGGCTCC	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			63	43					0	0	0.003610	0	0
AMPD1	270	broad.mit.edu	37	1	115215835	115215835	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:115215835A>G	ENST00000369538.3	-	15	2278	c.2231T>C	c.(2230-2232)aTc>aCc	p.I744T	AMPD1_ENST00000520113.2_Missense_Mutation_p.I748T|AMPD1_ENST00000353928.6_Missense_Mutation_p.I715T	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	715					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGTCCTCCGGATATCATTTCC	0.413000													11	33					0	0	0.008291	0	0
FAM78B	149297	broad.mit.edu	37	1	166135338	166135338	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:166135338T>G	ENST00000338353.3	-	2	737	c.148A>C	c.(148-150)Aaa>Caa	p.K50Q	FAM78B_ENST00000354422.3_Missense_Mutation_p.K50Q			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	50										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GCGGAGGCTTTGAAGTAGGGG	0.622000													6	18					0	0	0.001168	0	0
XK	7504	broad.mit.edu	37	X	37587654	37587654	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:37587654G>T	ENST00000378616.3	+	3	1477	c.1274G>T	c.(1273-1275)aGc>aTc	p.S425I	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	425					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				ACACCTTCTAGCAGTAAAACA	0.473000													41	30					1.63429e-32	2.19784e-32	0.003610	1	0
KNG1	3827	broad.mit.edu	37	3	186450463	186450463	+	Splice_Site	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:186450463G>A	ENST00000265023.4	+	7	1142	c.930_splice	c.e7+1	p.Q310_splice	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Splice_Site_p.Q310_splice|KNG1_ENST00000447445.1_Splice_Site_p.Q274_splice	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	310	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CAAGAGTACAGGTGTGTAAAC	0.388000													26	57					0	0	0.003954	0	0
UGDH	7358	broad.mit.edu	37	4	39512080	39512080	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:39512080G>C	ENST00000316423.6	-	5	898	c.556C>G	c.(556-558)Cca>Gca	p.P186A	UGDH_ENST00000506179.1_Missense_Mutation_p.P186A|UGDH_ENST00000501493.2_Missense_Mutation_p.P119A|UGDH_ENST00000507089.1_Missense_Mutation_p.P89A	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	186					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TGGCCCTCTGGAGTTTCATCC	0.517000													13	95					0	0	0.001855	0	0
RIMS1	22999	broad.mit.edu	37	6	72889469	72889469	+	Silent	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:72889469C>A	ENST00000264839.7	+	5	663	c.663C>A	c.(661-663)ccC>ccA	p.P221P	RIMS1_ENST00000348717.5_Silent_p.P221P|RIMS1_ENST00000521978.1_Silent_p.P221P|RIMS1_ENST00000520567.1_Silent_p.P221P|RIMS1_ENST00000518273.1_Silent_p.P221P|RIMS1_ENST00000517960.1_Silent_p.P221P|RIMS1_ENST00000491071.2_Silent_p.P221P|RIMS1_ENST00000522291.1_Silent_p.P221P			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	221					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTCAGACACCCCTAAGCACAG	0.602000													25	67					1.17739e-12	1.4254e-12	0.005443	1	0
PRRC2A	7916	broad.mit.edu	37	6	31597526	31597526	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:31597526G>A	ENST00000376033.2	+	14	2392	c.2158G>A	c.(2158-2160)Gat>Aat	p.D720N	PRRC2A_ENST00000376007.4_Missense_Mutation_p.D720N	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	720	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AATGAACTTTGATCCCCGATG	0.647000													18	35					0	0	0.008871	0	0
KCNH8	131096	broad.mit.edu	37	3	19575181	19575181	+	Silent	SNP	C	C	A	rs138763434	byFrequency	TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:19575181C>A	ENST00000328405.2	+	16	3180	c.2914C>A	c.(2914-2916)Cga>Aga	p.R972R		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	972	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGCCCCCAACGAACTGGAGC	0.493000													17	65					2.94398e-08	3.39117e-08	0.007413	1	0
FBXO18	84893	broad.mit.edu	37	10	5937145	5937145	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:5937145C>T	ENST00000379999.5	+	2	253	c.149C>T	c.(148-150)gCt>gTt	p.A50V	FBXO18_ENST00000362091.4_Intron|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000397269.3_Intron	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	0					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ACAGAGCACGCTGAAAGTAAG	0.522000													15	19					0	0	0.003163	0	0
LGSN	51557	broad.mit.edu	37	6	63989943	63989943	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:63989943A>T	ENST00000370657.4	-	4	1546	c.1513T>A	c.(1513-1515)Tta>Ata	p.L505I	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	505					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AAATACTCTAAGAATTTATTT	0.323000													60	47					0	0	0.003610	0	0
SLC25A23	79085	broad.mit.edu	37	19	6459599	6459599	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:6459599C>A	ENST00000301454.4	-	1	147	c.41G>T	c.(40-42)tGg>tTg	p.W14L	SLC25A23_ENST00000334510.5_Missense_Mutation_p.W14L	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	14	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CAGGCGACCCCAGCGCTGCCG	0.771000													9	10					3.86212e-05	4.13474e-05	0.008291	1	0
POLR2C	5432	broad.mit.edu	37	16	57503195	57503195	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr16:57503195G>A	ENST00000219252.5	+	5	715	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	126					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						AACAGCCCCCGGGTCATTCCG	0.577000													28	65					0	0	0.004656	0	0
DTNA	1837	broad.mit.edu	37	18	32374075	32374075	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr18:32374075G>A	ENST00000283365.9	+	5	574	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	DTNA_ENST00000554864.3_Missense_Mutation_p.E75K|DTNA_ENST00000596745.1_Missense_Mutation_p.E75K|DTNA_ENST00000315456.6_Missense_Mutation_p.E75K|DTNA_ENST00000399113.3_Missense_Mutation_p.E75K|DTNA_ENST00000269191.6_Missense_Mutation_p.E75K|DTNA_ENST00000269190.7_Missense_Mutation_p.E75K|DTNA_ENST00000598334.1_Missense_Mutation_p.E75K|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000598774.1_Missense_Mutation_p.E75K|DTNA_ENST00000598142.1_Missense_Mutation_p.E75K|DTNA_ENST00000597599.1_Missense_Mutation_p.E75K|DTNA_ENST00000399121.5_Missense_Mutation_p.E75K|DTNA_ENST00000348997.5_Missense_Mutation_p.E75K|DTNA_ENST00000444659.1_Missense_Mutation_p.E75K|DTNA_ENST00000595022.1_Missense_Mutation_p.E75K	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	75	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCCAAACACTGAACTCAACGT	0.463000													8	45					0	0	0.006214	0	0
PDCD5	9141	broad.mit.edu	37	19	33076808	33076808	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:33076808G>A	ENST00000590247.1	+	4	447	c.253G>A	c.(253-255)Gag>Aag	p.E85K	PDCD5_ENST00000586035.1_Missense_Mutation_p.E47K|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000379316.3_Intron	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	85					apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					ACAACTAAGTGAGAAGGTAAG	0.358000													75	42					0	0	0.003610	0	0
ZNF521	25925	broad.mit.edu	37	18	22805128	22805128	+	Silent	SNP	G	G	T	rs149662480		TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr18:22805128G>T	ENST00000361524.3	-	4	2902	c.2754C>A	c.(2752-2754)atC>atA	p.I918I	ZNF521_ENST00000538137.2_Silent_p.I918I|ZNF521_ENST00000584787.1_Silent_p.I698I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	918					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCTTTTTCACGATGGCACTTT	0.498000			T	PAX5	ALL								18	75					7.07596e-05	7.51649e-05	0.006122	1	0
TIE1	7075	broad.mit.edu	37	1	43772829	43772829	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:43772829C>T	ENST00000372476.3	+	5	736	c.657C>T	c.(655-657)cgC>cgT	p.R219R	TIE1_ENST00000538015.1_Silent_p.R219R|TIE1_ENST00000441333.2_Silent_p.R219R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	219	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCTGGGCGCTGGGGGCCAG	0.637000													23	41					0	0	0.004656	0	0
SNHG14	104472715	broad.mit.edu	37	15	25422314	25422314	+	RNA	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr15:25422314C>A	ENST00000441592.2	+	0	235																											TGAGCTCTTCCCCCCAGCAGA	0.622000													4	0					0.00024832	0.000260736	0.009096	1	0
WDFY3	23001	broad.mit.edu	37	4	85687123	85687123	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:85687123C>T	ENST00000322366.6	-	32	5435	c.5028G>A	c.(5026-5028)gaG>gaA	p.E1676E	WDFY3_ENST00000295888.4_Silent_p.E1676E			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1676						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)		GTAAGTGTTCCTCCATAAACA	0.368000													28	39					0	0	0.010818	0	0
GDA	9615	broad.mit.edu	37	9	74865665	74865665	+	Splice_Site	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:74865665G>T	ENST00000376986.1	+	14	1356		c.e14-1		GDA_ENST00000376989.3_Splice_Site|GDA_ENST00000358399.3_3'UTR|GDA_ENST00000238018.4_Splice_Site			Q9Y2T3	GUAD_HUMAN	guanine deaminase						nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CTCTCTGACAGGAAAGAAACA	0.393000													43	55					2.59344e-38	3.53122e-38	0.003610	1	0
ADAM12	8038	broad.mit.edu	37	10	127806654	127806654	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:127806654C>A	ENST00000368679.4	-	6	874	c.565G>T	c.(565-567)Gct>Tct	p.A189S	ADAM12_ENST00000368676.4_Missense_Mutation_p.A189S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	189					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTCTTTGCAGCGAGGTTTGGT	0.483000													51	73					3.50607e-19	4.47269e-19	0.003610	1	0
TRPA1	8989	broad.mit.edu	37	8	72946612	72946612	+	Splice_Site	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr8:72946612T>C	ENST00000262209.4	-	22	2763	c.2555_splice	c.e22-1	p.R852_splice	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	852						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATTTTCAAATCTAGAAAAGT	0.269000													6	15					0	0	0.001984	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37947426	37947426	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:37947426G>C	ENST00000373087.6	+	4	924	c.808G>C	c.(808-810)Gtc>Ctc	p.V270L		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	270					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)				GTACTCCTTCGTCAATGACAA	0.607000													7	6					0	0	0.001984	0	0
OR5J2	282775	broad.mit.edu	37	11	55944574	55944574	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:55944574A>G	ENST00000312298.1	+	1	481	c.481A>G	c.(481-483)Atc>Gtc	p.I161V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AATCCACACAATCAGCTTGAG	0.443000													25	30					0	0	0.003330	0	0
INTS6-AS1	100507398	broad.mit.edu	37	13	52034938	52034938	+	RNA	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr13:52034938G>C	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000597745.1_RNA																							CATCAGCATTGACAAGACAGA	0.408000													5	17					0	0	0.000602	0	0
TM7SF3	51768	broad.mit.edu	37	12	27128438	27128438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr12:27128438G>A	ENST00000343028.4	-	11	1666	c.1441C>T	c.(1441-1443)Caa>Taa	p.Q481*	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	481						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CCATTAGTTTGAAAAGGCACA	0.418000													6	37					0	0	0.001984	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343292	130343292	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:130343292C>G	ENST00000299164.2	+	8	2429	c.2429C>G	c.(2428-2430)tCt>tGt	p.S810C		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	810	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GACAAGTCCTCTCATCCCAAG	0.657000													33	236					0	0	0.004289	0	0
FAM78B	149297	broad.mit.edu	37	1	166135335	166135335	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:166135335C>T	ENST00000338353.3	-	2	740	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	FAM78B_ENST00000354422.3_Missense_Mutation_p.A51T			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	51										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CGGGCGGAGGCTTTGAAGTAG	0.627000													7	19					0	0	0.003080	0	0
DLK1	8788	broad.mit.edu	37	14	101195281	101195281	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:101195281C>A	ENST00000341267.4	+	3	382	c.140C>A	c.(139-141)cCt>cAt	p.P47H	DLK1_ENST00000556051.1_Missense_Mutation_p.P47H|DLK1_ENST00000331224.6_Missense_Mutation_p.P47H	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	47	EGF-like 1.			Missing (in Ref. 3; CAA35582).|QP -> HV (in Ref. 1; CAA78163).	multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGTGCCAGCCTGGCTGGCAG	0.617000													92	108					1.31215e-26	1.73052e-26	0.003610	1	0
BTBD16	118663	broad.mit.edu	37	10	124092011	124092011	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:124092011G>T	ENST00000368994.2	+	13	1401	c.1150G>T	c.(1150-1152)Ggg>Tgg	p.G384W	BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000260723.4_Missense_Mutation_p.G383W			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	383										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TGTGAGATTTGGGCTGCTCTT	0.512000													28	28					7.26314e-15	9.0129e-15	0.007291	1	0
MPRIP	23164	broad.mit.edu	37	17	17078657	17078657	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:17078657G>A	ENST00000395811.5	+	19	2729	c.2640G>A	c.(2638-2640)ctG>ctA	p.L880L	MPRIP_ENST00000444976.1_Silent_p.L842L|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000341712.4_Silent_p.L880L|MPRIP_ENST00000395804.3_Silent_p.L880L	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	880						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GGACGCTGCTGACTGGGGACG	0.632000													8	21					0	0	0.004482	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105892133	105892133	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:105892133C>T	ENST00000393359.2	-	8	1975	c.1549G>A	c.(1549-1551)Gtc>Atc	p.V517I	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V517I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	517					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GAGTCCTGGACATCGCCATTC	0.403000													8	80					0	0	0.004482	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234874	26234874	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:26234874C>G	ENST00000244534.5	-	1	342	c.288G>C	c.(286-288)caG>caC	p.Q96H		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	96	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TACCTTTGGTCTGCACCAGAG	0.527000													21	109					0	0	0.012319	0	0
KIF26A	26153	broad.mit.edu	37	14	104640602	104640602	+	Silent	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:104640602G>T	ENST00000315264.7	+	10	2109	c.1731G>T	c.(1729-1731)gtG>gtT	p.V577V	KIF26A_ENST00000423312.2_Silent_p.V716V			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	716	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TCAGCACCGTGCAGCTCGCCG	0.697000													4	3					0.00024832	0.000260736	0.009096	1	0
GABRA4	2557	broad.mit.edu	37	4	46967176	46967176	+	Silent	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:46967176A>G	ENST00000264318.3	-	8	1927	c.945T>C	c.(943-945)taT>taC	p.Y315Y		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	315					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGCGGTAGCATAGGACACTT	0.438000													26	61					0	0	0.003954	0	0
MOGAT1	116255	broad.mit.edu	37	2	223559872	223559872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:223559872G>T	ENST00000446656.3	+	5	718	c.718G>T	c.(718-720)Gaa>Taa	p.E240*		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	240					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TGACAACCCTGAAGGATCATG	0.428000													15	14					3.27435e-08	3.73235e-08	0.002450	1	0
ZNF521	25925	broad.mit.edu	37	18	22807050	22807050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr18:22807050G>A	ENST00000361524.3	-	4	980	c.832C>T	c.(832-834)Cga>Tga	p.R278*	ZNF521_ENST00000538137.2_Nonsense_Mutation_p.R278*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.R58*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	278					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGGGCCGCTCGGTCCTCATTT	0.557000			T	PAX5	ALL								31	103					0	0	0.012213	0	0
EEF1B2	1933	broad.mit.edu	37	2	207027266	207027266	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:207027266G>A	ENST00000392222.2	+	5	826	c.451G>A	c.(451-453)Gat>Aat	p.D151N	EEF1B2_ENST00000236957.5_Missense_Mutation_p.D151N|EEF1B2_ENST00000392221.1_Missense_Mutation_p.D151N	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	151						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						ACCTTGGGATGATGAGACAGA	0.378000													17	177					0	0	0.006122	0	0
ASZ1	136991	broad.mit.edu	37	7	117021090	117021090	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:117021090G>T	ENST00000284629.2	-	9	982	c.920C>A	c.(919-921)aCc>aAc	p.T307N		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	307	SAM.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TTCCCTCATGGTCAAAAGATG	0.313000													17	88					3.99206e-14	4.88714e-14	0.007413	1	0
OR2M4	26245	broad.mit.edu	37	1	248402386	248402386	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:248402386G>A	ENST00000306687.1	+	1	156	c.156G>A	c.(154-156)gaG>gaA	p.E52E		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACATAGAGAAACAGCTCC	0.478000													33	160					0	0	0.003755	0	0
PDE3B	5140	broad.mit.edu	37	11	14665637	14665637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:14665637C>T	ENST00000282096.4	+	1	369	c.16C>T	c.(16-18)Cga>Tga	p.R6*	PDE3B_ENST00000455098.2_Nonsense_Mutation_p.R6*	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	6					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|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						GAGGGACGAGCGAGACGCCAA	0.721000													3	9					0	0	0.004672	0	0
COL6A3	1293	broad.mit.edu	37	2	238268032	238268032	+	Splice_Site	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:238268032C>T	ENST00000295550.4	-	18	6735		c.e18-1		COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCGAGAGCCCTAGAAGGCAA	0.507000													24	140					0	0	0.003954	0	0
GCK	2645	broad.mit.edu	37	7	44191930	44191930	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:44191930C>T	ENST00000403799.3	-	3	772	c.303G>A	c.(301-303)gtG>gtA	p.V101V	GCK_ENST00000395796.3_Silent_p.V100V|GCK_ENST00000345378.2_Silent_p.V102V|GCK_ENST00000437084.1_Silent_p.V101V	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	101					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GTTTGGTCTTCACGCTCCACT	0.622000													41	133					0	0	0.011902	0	0
OR2L2	26246	broad.mit.edu	37	1	248201848	248201848	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:248201848C>A	ENST00000366479.2	+	1	375	c.279C>A	c.(277-279)ttC>ttA	p.F93L	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ctatctccttcactggatgtg	0.423000													51	115					1.19451e-25	1.5678e-25	0.003610	1	0
CAPN6	827	broad.mit.edu	37	X	110497506	110497506	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:110497506C>A	ENST00000324068.1	-	3	458	c.291G>T	c.(289-291)tgG>tgT	p.W97C	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	97	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ATACCTTTGTCCAATGAGACT	0.438000													33	17					6.53348e-20	8.37389e-20	0.003755	1	0
PTPRF	5792	broad.mit.edu	37	1	44078461	44078461	+	Silent	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:44078461G>C	ENST00000422171.2	+	13	2236	c.2040G>C	c.(2038-2040)ccG>ccC	p.P680P	PTPRF_ENST00000496447.1_Intron|PTPRF_ENST00000438120.1_Intron|PTPRF_ENST00000372413.3_Intron|PTPRF_ENST00000372414.3_Intron|PTPRF_ENST00000359947.4_Intron			P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1325	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGTTGCCCGAATACCTCAA	0.433000													12	13					0	0	0.001855	0	0
OR51S1	119692	broad.mit.edu	37	11	4870112	4870112	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:4870112C>T	ENST00000322101.2	-	1	402	c.327G>A	c.(325-327)atG>atA	p.M109I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATAAAAACCATCTGTAGAA	0.557000													28	53					0	0	0.004656	0	0
ATR	545	broad.mit.edu	37	3	142274977	142274977	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:142274977T>C	ENST00000350721.4	-	10	2204	c.2083A>G	c.(2083-2085)Aaa>Gaa	p.K695E	ATR_ENST00000383101.3_Missense_Mutation_p.K631E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	695					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTTTGACTTTATCTCTGGGG	0.328000								Other conserved DNA damage response genes					15	31					0	0	0.006122	0	0
IVL	3713	broad.mit.edu	37	1	152883987	152883987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:152883987C>T	ENST00000368764.3	+	2	1778	c.1714C>T	c.(1714-1716)Cag>Tag	p.Q572*	IVL_ENST00000392667.2_Nonsense_Mutation_p.Q426*			P07476	INVO_HUMAN	involucrin	572					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTAGAGCACCAGCAGCAGAA	0.567000													19	59					0	0	0.007413	0	0
C6orf10	10665	broad.mit.edu	37	6	32260881	32260881	+	Silent	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:32260881A>T	ENST00000375015.4	-	26	1766	c.1566T>A	c.(1564-1566)ggT>ggA	p.G522G	C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000533191.1_Silent_p.G521G|C6orf10_ENST00000375007.4_Silent_p.G521G|C6orf10_ENST00000527965.1_Silent_p.G507G|C6orf10_ENST00000447241.2_Silent_p.G523G			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	523	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ttcctttgtcaccttttgtgt	0.353000													17	37					0	0	0.004007	0	0
MYO18B	84700	broad.mit.edu	37	22	26343735	26343735	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr22:26343735G>C	ENST00000335473.7	+	36	5939	c.5689G>C	c.(5689-5691)Gat>Cat	p.D1897H	MYO18B_ENST00000407587.2_Missense_Mutation_p.D1898H|MYO18B_ENST00000536101.1_Missense_Mutation_p.D1897H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1897	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAGCGCATCGATGAGGACCA	0.552000													11	27					0	0	0.001855	0	0
GPR97	222487	broad.mit.edu	37	16	57719568	57719568	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr16:57719568G>A	ENST00000333493.4	+	11	1431	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Missense_Mutation_p.E214K|GPR97_ENST00000450388.3_Missense_Mutation_p.E304K	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	424					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGTTCCGTGAAGGGACAAC	0.582000													20	119					0	0	0.002780	0	0
SLIT2	9353	broad.mit.edu	37	4	20535276	20535276	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:20535276G>A	ENST00000504154.1	+	18	2022	c.1770G>A	c.(1768-1770)acG>acA	p.T590T	SLIT2_ENST00000503837.1_Silent_p.T586T|SLIT2_ENST00000503823.1_Silent_p.T582T|SLIT2_ENST00000273739.5_Silent_p.T594T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	590					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TACTTCTTACGAGTAATCGTT	0.348000													19	61					0	0	0.008871	0	0
MDN1	23195	broad.mit.edu	37	6	90402199	90402199	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:90402199T>A	ENST00000369393.3	-	63	10665	c.10550A>T	c.(10549-10551)gAc>gTc	p.D3517V	MDN1_ENST00000428876.1_Missense_Mutation_p.D3517V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3517					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)		GGCCCTCTGGTCCAACTCTCC	0.602000													13	24					0	0	0.002450	0	0
FAT3	120114	broad.mit.edu	37	11	92534064	92534064	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:92534064G>A	ENST00000298047.6	+	9	7902	c.7885G>A	c.(7885-7887)Gat>Aat	p.D2629N	FAT3_ENST00000525166.1_Missense_Mutation_p.D2479N|FAT3_ENST00000409404.2_Missense_Mutation_p.D2629N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2629	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGATCCCGATGATGGAGCAAA	0.502000										TCGA Ovarian(4;0.039)			5	25					0	0	0.000602	0	0
C4orf21	55345	broad.mit.edu	37	4	113475105	113475105	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:113475105C>A	ENST00000505019.1	-	22	5357	c.5232G>T	c.(5230-5232)caG>caT	p.Q1744H		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTTCTTTTAACTGTTCACTTT	0.348000													14	52					1.99824e-07	2.25888e-07	0.004990	1	0
FUT9	10690	broad.mit.edu	37	6	96651885	96651885	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:96651885C>A	ENST00000302103.5	+	3	1180	c.854C>A	c.(853-855)tCa>tAa	p.S285*		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	285					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CCAGCAGATTCATTCATTCAT	0.383000													15	26					7.93312e-07	8.87599e-07	0.002450	1	0
ATP1A4	480	broad.mit.edu	37	1	160136429	160136429	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:160136429G>A	ENST00000368081.4	+	8	1630	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	387					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGACAAGACGGGCACCCTCAC	0.592000													51	86					0	0	0.003610	0	0
C14orf93	60686	broad.mit.edu	37	14	23465468	23465468	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:23465468C>T	ENST00000299088.6	-	3	1036	c.607G>A	c.(607-609)Gat>Aat	p.D203N	C14orf93_ENST00000397377.1_Missense_Mutation_p.D23N|C14orf93_ENST00000397382.4_Missense_Mutation_p.D203N|C14orf93_ENST00000341470.4_Missense_Mutation_p.D203N|C14orf93_ENST00000397379.3_Missense_Mutation_p.D203N|C14orf93_ENST00000406429.2_Missense_Mutation_p.D203N|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	203						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GCCACGTAATCATCCACCAGC	0.493000													22	26					0	0	0.002780	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369241	86369241	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr13:86369241T>C	ENST00000400286.2	-	2	2001	c.1403A>G	c.(1402-1404)aAc>aGc	p.N468S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	468						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GAGGAGGTTGTTATTTAAATA	0.333000													15	60					0	0	0.002450	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661345	176661345	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:176661345G>T	ENST00000367662.3	+	6	3679	c.2515G>T	c.(2515-2517)Gaa>Taa	p.E839*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	839					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCAGTGGACTGAAAGCAGAAA	0.493000													49	149					3.86236e-30	5.14353e-30	0.003610	1	0
OR4M2	390538	broad.mit.edu	37	15	22368926	22368926	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr15:22368926G>A	ENST00000332663.2	+	1	449	c.351G>A	c.(349-351)gtG>gtA	p.V117V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGCTCACAGTGATGGCCTTTG	0.488000													73	501					0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	90106906	90106906	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:90106906C>T	ENST00000405460.2	+	74	15925	c.15829C>T	c.(15829-15831)Cgt>Tgt	p.R5277C	GPR98_ENST00000425867.2_Missense_Mutation_p.R938C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5277					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGCCCTTTCGTGGTATCTA	0.413000													20	29					0	0	0.007413	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21747364	21747364	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr18:21747364C>T	ENST00000319481.3	-	25	2670	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.E440K|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.E309K	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	822					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AATACACTTTCAGAATCCGGC	0.458000													17	167					0	0	0.006122	0	0
FAM170A	340069	broad.mit.edu	37	5	118969672	118969672	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:118969672C>T	ENST00000515256.1	+	3	401	c.229C>T	c.(229-231)Cga>Tga	p.R77*				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	77						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GAGAATACATCGAGACAGCCC	0.512000													10	42					0	0	0.010729	0	0
ALG10B	144245	broad.mit.edu	37	12	38714725	38714725	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr12:38714725A>G	ENST00000308742.4	+	3	1448	c.1132A>G	c.(1132-1134)Ata>Gta	p.I378V	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	378					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCCAGCCTATATATTTGCTGG	0.303000													13	64					0	0	0.002450	0	0
STRN3	29966	broad.mit.edu	37	14	31416332	31416332	+	Missense_Mutation	SNP	C	C	A	rs145004284		TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:31416332C>A	ENST00000355683.5	-	5	895	c.680G>T	c.(679-681)gGt>gTt	p.G227V	STRN3_ENST00000357479.5_Missense_Mutation_p.G227V	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	227					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AGGAGATTCACCTCCATTCAG	0.328000													14	31					2.61681e-11	3.11961e-11	0.002450	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5146374	5146374	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:5146374G>A	ENST00000274181.7	+	3	445	c.307G>A	c.(307-309)Ggc>Agc	p.G103S	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.G103S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	103					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCGGCTGAAAGGCTCCAGGCA	0.557000													21	36					0	0	0.002780	0	0
TAP2	6891	broad.mit.edu	37	6	32802973	32802973	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:32802973G>A	ENST00000374897.2	-	5	1034	c.903C>T	c.(901-903)ccC>ccT	p.P301P	TAP2_ENST00000452392.2_Silent_p.P301P|TAP2_ENST00000374899.4_Silent_p.P301P	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	301	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CTATTGTGAAGGGCATGTGCA	0.542000													10	41					0	0	0.006214	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022063	51022063	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:51022063G>A	ENST00000599957.1	-	3	1104	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	LRRC4B_ENST00000389201.3_Missense_Mutation_p.L303F			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	303						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ACGCGCTCGAGGCGGTGCAGG	0.637000													87	44					0	0	0.003610	0	0
WDR78	79819	broad.mit.edu	37	1	67327902	67327902	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:67327902C>G	ENST00000371026.3	-	7	1079	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	WDR78_ENST00000431318.1_Missense_Mutation_p.E88Q|WDR78_ENST00000371023.3_Missense_Mutation_p.E342Q|WDR78_ENST00000493572.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	342										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTACTTGACTCAACCACAGAT	0.343000													6	30					0	0	0.003080	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604476	140604476	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:140604476G>A	ENST00000239449.4	+	1	1399	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	PCDHB14_ENST00000515856.2_Missense_Mutation_p.A314T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		467	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACAGCCCCGCCCTGCACAT	0.627000													93	126					0	0	0.003610	0	0
NAF1	92345	broad.mit.edu	37	4	164050300	164050300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:164050300G>A	ENST00000274054.2	-	8	1427	c.1234C>T	c.(1234-1236)Cag>Tag	p.Q412*	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	412					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	p.Q412*(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TTTTGTCTCTGAGAAGGAAAT	0.502000													9	25					0	0	0.004482	0	0
OR8D4	338662	broad.mit.edu	37	11	123777258	123777258	+	Silent	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:123777258G>T	ENST00000321355.2	+	1	150	c.120G>T	c.(118-120)gtG>gtT	p.V40V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TTACTGTGGTGGGAAACCTCA	0.413000													25	98					1.42536e-11	1.71043e-11	0.004656	1	0
CYP26C1	340665	broad.mit.edu	37	10	94828197	94828197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:94828197G>T	ENST00000285949.5	+	6	1312	c.1312G>T	c.(1312-1314)Gaa>Taa	p.E438*		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	438					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CGCAGCGCGCGAAGATTCCCG	0.687000													21	19					1.55795e-14	1.92018e-14	0.012319	1	0
SCTR	6344	broad.mit.edu	37	2	120219423	120219423	+	Splice_Site	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:120219423C>A	ENST00000019103.5	-	7	1057	c.790_splice	c.e7+1	p.G264_splice		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	264					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGAAACATACCCCATCCGAAT	0.532000													33	33					1.04594e-18	1.3281e-18	0.006230	1	0
TNR	7143	broad.mit.edu	37	1	175304935	175304935	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:175304935C>T	ENST00000367674.1	-	20	4251	c.3543G>A	c.(3541-3543)caG>caA	p.Q1181Q	TNR_ENST00000263525.2_Silent_p.Q1181Q	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1181	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCTGCCGCCTCTGGAATACCT	0.398000													15	75					0	0	0.004007	0	0
REV3L	5980	broad.mit.edu	37	6	111650886	111650886	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:111650886C>G	ENST00000435970.1	-	27	8672	c.7856G>C	c.(7855-7857)aGa>aCa	p.R2619T	REV3L_ENST00000368802.3_Missense_Mutation_p.R2697T|REV3L_ENST00000358835.3_Missense_Mutation_p.R2697T|REV3L_ENST00000368805.1_Missense_Mutation_p.R2697T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2697					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CACCATAAATCTAGTCTTCAA	0.383000								DNA polymerases (catalytic subunits)					12	33					0	0	0.010729	0	0
CCKAR	886	broad.mit.edu	37	4	26490979	26490979	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:26490979G>A	ENST00000295589.3	-	2	434	c.240C>T	c.(238-240)ctC>ctT	p.L80L		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	80					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CCAGGGAGAGGAGGAAGATGT	0.547000													11	48					0	0	0.008291	0	0
RORB	6096	broad.mit.edu	37	9	77286800	77286800	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:77286800G>C	ENST00000376896.2	+	9	1819	c.1207G>C	c.(1207-1209)Gat>Cat	p.D403H	RORB_ENST00000396204.2_Missense_Mutation_p.D414H	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	414	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCACCTGGATGATGAGACCTT	0.428000													13	19					0	0	0.003163	0	0
NKX6-1	4825	broad.mit.edu	37	4	85419026	85419026	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:85419026G>C	ENST00000295886.4	-	1	577	c.356C>G	c.(355-357)tCg>tGg	p.S119W		NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	119	Poly-Ser.|Repressor domain (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		accggagggcgaggcggaggG	0.761000													3	10					0	0	0.004672	0	0
TSC22D4	81628	broad.mit.edu	37	7	100075071	100075071	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:100075071C>A	ENST00000300181.2	-	2	1345	c.591G>T	c.(589-591)gaG>gaT	p.E197D	TSC22D4_ENST00000393991.1_5'UTR|TSC22D4_ENST00000496728.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	197					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGTCTCAGGCTCTGGGGGGC	0.706000													8	28					5.18039e-06	5.69113e-06	0.003080	1	0
PASD1	139135	broad.mit.edu	37	X	150773189	150773189	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:150773189A>T	ENST00000370357.4	+	3	345	c.100A>T	c.(100-102)Aac>Tac	p.N34Y		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	34	PAS.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGATTACTTCAACCAAGTGAC	0.333000													6	5					0	0	0.001984	0	0
PDE8B	8622	broad.mit.edu	37	5	76649204	76649204	+	Silent	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:76649204G>T	ENST00000264917.5	+	10	1185	c.1140G>T	c.(1138-1140)ctG>ctT	p.L380L	PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Silent_p.L380L|PDE8B_ENST00000340978.3_Silent_p.L333L|PDE8B_ENST00000342343.4_Silent_p.L360L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	380					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TCAAGAAACTGTGTTGTACCA	0.373000													18	15					1.96895e-08	2.27282e-08	0.002780	1	0
FMN2	56776	broad.mit.edu	37	1	240255893	240255893	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:240255893G>T	ENST00000319653.9	+	1	714	c.484G>T	c.(484-486)Gat>Tat	p.D162Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	162					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.D305Y(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GATCGCCGAGGATGTGGAAAC	0.642000													12	41					0.00010058	0.000106222	0.001368	1	0
MAPK12	6300	broad.mit.edu	37	22	50693762	50693762	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr22:50693762C>T	ENST00000215659.8	-	11	1203	c.888G>A	c.(886-888)gcG>gcA	p.A296A	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Silent_p.A206A	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	296	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCGCTGCTCCGCGTCCAGCA	0.657000													18	129					0	0	0.008871	0	0
CACNA1S	779	broad.mit.edu	37	1	201019618	201019618	+	Silent	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:201019618G>T	ENST00000362061.3	-	34	4366	c.4140C>A	c.(4138-4140)atC>atA	p.I1380I	CACNA1S_ENST00000367338.3_Silent_p.I1361I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1380	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AATTGTCCATGATGACAGCCA	0.557000													14	44					2.48551e-13	3.02246e-13	0.004990	1	0
PPP4R1	9989	broad.mit.edu	37	18	9595070	9595070	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr18:9595070A>G	ENST00000400556.3	-	3	207	c.134T>C	c.(133-135)tTg>tCg	p.L45S	PPP4R1_ENST00000400555.3_Missense_Mutation_p.L28S	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	45					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						CAGGGGCGTCAACATTTCATC	0.418000													21	48					0	0	0.002299	0	0
NEK10	152110	broad.mit.edu	37	3	27243985	27243985	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:27243985G>A	ENST00000429845.2	-	25	2516	c.2154C>T	c.(2152-2154)atC>atT	p.I718I	NEK10_ENST00000383770.3_Silent_p.I30I|NEK10_ENST00000383771.4_Silent_p.I30I|NEK10_ENST00000295720.6_Silent_p.I30I|NEK10_ENST00000357467.2_Silent_p.I115I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	718							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCTGATAAAGGATGCAGCCTA	0.493000													6	36					0	0	0.001984	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773985	140773985	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:140773985C>T	ENST00000398604.2	+	1	1605	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACAGCCAGCGACAGCGGGG	0.587000													21	93					0	0	0.012319	0	0
KIAA1919	91749	broad.mit.edu	37	6	111583529	111583529	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:111583529A>G	ENST00000368847.4	+	2	450	c.97A>G	c.(97-99)Agt>Ggt	p.S33G		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	33					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AAATATCAGTAGTCTGTCTTT	0.373000													56	79					0	0	0.003610	0	0
SLC8B1	80024	broad.mit.edu	37	12	113748059	113748059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr12:113748059G>A	ENST00000552014.1	-	13	1752	c.1237C>T	c.(1237-1239)Cag>Tag	p.Q413*	SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Nonsense_Mutation_p.Q357*|SLC24A6_ENST00000202831.3_Nonsense_Mutation_p.Q413*			Q6J4K2	NCKX6_HUMAN		413					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CTGGGGGGCTGGCTGTCAGAT	0.592000													7	33					0	0	0.004482	0	0
SPATA31A2	642265	broad.mit.edu	37	9	39888179	39888179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:39888179C>A	ENST00000456183.2	+	4	1195	c.1166C>A	c.(1165-1167)tCg>tAg	p.S389*		NM_001040065.1	NP_001035154.1			SPATA31 subfamily A, member 2																		GGAGAGAACTCGAAACAGCTG	0.483000													33	39					1.67305e-13	2.03903e-13	0.006230	1	0
SCRIB	23513	broad.mit.edu	37	8	144891822	144891822	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr8:144891822C>T	ENST00000356994.2	-	14	1603	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	SCRIB_ENST00000320476.3_Missense_Mutation_p.E533K|SCRIB_ENST00000377533.3_Missense_Mutation_p.E452K	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	533	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	cell-cell adherens junction|Scrib-APC-beta-catenin complex	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)			GGCTCAGCCTCAGAGACTGTG	0.667000													9	80					0	0	0.004482	0	0
TRPV2	51393	broad.mit.edu	37	17	16326824	16326824	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:16326824G>T	ENST00000338560.7	+	5	1066	c.667G>T	c.(667-669)Gat>Tat	p.D223Y	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	223	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAAGCAGTGGGATGTGGTAAG	0.612000													28	25					4.59853e-10	5.44641e-10	0.005443	1	0
C4orf21	55345	broad.mit.edu	37	4	113540608	113540608	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:113540608G>A	ENST00000505019.1	-	6	715	c.590C>T	c.(589-591)tCt>tTt	p.S197F	C4orf21_ENST00000309071.5_Missense_Mutation_p.S197F|C4orf21_ENST00000445203.2_Missense_Mutation_p.S166F	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	197										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GAAGGATGGAGAAAAAACCGA	0.383000													7	16					0	0	0.001984	0	0
CX3CR1	1524	broad.mit.edu	37	3	39306967	39306967	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:39306967T>A	ENST00000541347.1	-	2	1273	c.1034A>T	c.(1033-1035)cAc>cTc	p.H345L	CX3CR1_ENST00000542107.1_Missense_Mutation_p.H345L|CX3CR1_ENST00000399220.2_Missense_Mutation_p.H345L|CX3CR1_ENST00000358309.3_Missense_Mutation_p.H377L	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	345					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		ATCACTCGTGTGGTAAGTAAA	0.498000													30	91					0	0	0.012213	0	0
NDST4	64579	broad.mit.edu	37	4	115858642	115858642	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:115858642G>C	ENST00000264363.2	-	5	1917	c.1239C>G	c.(1237-1239)atC>atG	p.I413M		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	413	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGCCCATGTTGATTGGTATTC	0.443000													4	29					0	0	0.009096	0	0
HIP1	3092	broad.mit.edu	37	7	75174020	75174020	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:75174020G>C	ENST00000336926.6	-	27	2765	c.2739C>G	c.(2737-2739)agC>agG	p.S913R	HIP1_ENST00000434438.2_Missense_Mutation_p.S862R	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	913	I/LWEQ.|Important for actin binding (By similarity).				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGGGCTGTGCTAGCAGCAA	0.517000			T	PDGFRB	CMML								14	36					0	0	0.002450	0	0
SCAP	22937	broad.mit.edu	37	3	47458687	47458687	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:47458687G>A	ENST00000265565.5	-	18	3393	c.2981C>T	c.(2980-2982)gCc>gTc	p.A994V	SCAP_ENST00000441517.2_Missense_Mutation_p.A738V|SCAP_ENST00000545718.1_Missense_Mutation_p.A601V	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	994	Interaction with SREBF2 (By similarity).			A -> S (in Ref. 6; BAC11673).	cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCCTTCAATGGCGTCCCACAC	0.632000													6	25					0	0	0.001168	0	0
CHAF1B	8208	broad.mit.edu	37	21	37775077	37775077	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr21:37775077C>T	ENST00000314103.4	+	8	836	c.685C>T	c.(685-687)Cac>Tac	p.H229Y		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	229					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CCGGATGTTTCACGACGACAG	0.393000													39	200					0	0	0.013114	0	0
PLXNA2	5362	broad.mit.edu	37	1	208216424	208216424	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:208216424G>A	ENST00000367033.3	-	21	4756	c.3999C>T	c.(3997-3999)ccC>ccT	p.P1333P		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1333					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCCGCAGGACGGGGTGGTCCT	0.602000													14	41					0	0	0.004007	0	0
DCDC1	341019	broad.mit.edu	37	11	30938437	30938437	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:30938437C>T	ENST00000597505.1	-	24	3431	c.3432G>A	c.(3430-3432)gtG>gtA	p.V1144V	DCDC1_ENST00000339794.5_Silent_p.V223V|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCTGTGGTTCCACATTTTCAA	0.413000													8	35					0	0	0.006214	0	0
PHLDB3	653583	broad.mit.edu	37	19	44005962	44005962	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:44005962C>T	ENST00000292140.5	-	4	818	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	PHLDB3_ENST00000599242.1_Missense_Mutation_p.R153Q	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	153										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CTCCTCCTCCCGGCGAGCGGC	0.711000													13	10					0	0	0.001368	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452130	26452130	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:26452130G>A	ENST00000244519.2	+	11	1489	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	BTN3A3_ENST00000339789.4_Missense_Mutation_p.V374M|BTN3A3_ENST00000361232.3_Missense_Mutation_p.V367M	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	416	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TAGTAAGAACGTGGAGAGGAA	0.498000													8	48					0	0	0.003080	0	0
OFD1	8481	broad.mit.edu	37	X	13778481	13778481	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:13778481G>T	ENST00000380567.1	+	17	2354	c.1482G>T	c.(1480-1482)agG>agT	p.R494S	OFD1_ENST00000380550.3_Missense_Mutation_p.R594S|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.R634S			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	634					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CTAAGGCAAGGGTCAAAGAGC	0.468000													25	23					1.85244e-09	2.16581e-09	0.003330	1	0
LINC00599	157627	broad.mit.edu	37	8	9760960	9760960	+	RNA	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr8:9760960T>A	ENST00000385275.1	-	0	22					NR_029668.1																						CAAGGTCCGCTGTGAACACGG	0.532000													4	11					0	0	0.009096	0	0
PRAME	23532	broad.mit.edu	37	22	22892468	22892468	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr22:22892468C>T	ENST00000543184.1	-	4	1495	c.633G>A	c.(631-633)aaG>aaA	p.K211K	PRAME_ENST00000398743.2_Silent_p.K211K|PRAME_ENST00000402697.1_Silent_p.K211K|PRAME_ENST00000539862.1_Silent_p.K195K|PRAME_ENST00000398741.1_Silent_p.K211K|PRAME_ENST00000405655.3_Silent_p.K211K|PRAME_ENST00000424204.2_Silent_p.K195K	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	211					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCTTCAGCTTCTTACAGCACA	0.433000													13	79					0	0	0.001368	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33527457	33527457	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:33527457T>G	ENST00000504830.1	-	24	4956	c.4621A>C	c.(4621-4623)Aag>Cag	p.K1541Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K1456Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1541	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTTTGTCCTTAGTGCAAAGT	0.423000										HNSCC(64;0.19)			13	42					0	0	0.001368	0	0
SZT2	23334	broad.mit.edu	37	1	43913626	43913626	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:43913626G>C	ENST00000562955.1	+	67	9376	c.9376G>C	c.(9376-9378)Gag>Cag	p.E3126Q	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Missense_Mutation_p.E2284Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3183						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGGAGAGGCTGAGCGGCACGT	0.572000													21	57					0	0	0.008871	0	0
TMEM175	84286	broad.mit.edu	37	4	944993	944993	+	Splice_Site	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:944993A>T	ENST00000264771.4	+	5	475		c.e5-1		TMEM175_ENST00000508204.1_Splice_Site|TMEM175_ENST00000504180.1_Splice_Site|TMEM175_ENST00000515740.1_Splice_Site	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175							integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TAAATGGTTTAGGTTGTTCCA	0.403000													22	60					0	0	0.012319	0	0
CFH	3075	broad.mit.edu	37	1	196716443	196716443	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:196716443G>A	ENST00000367429.4	+	22	3936	c.3696G>A	c.(3694-3696)taG>taA	p.*1232*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	0					complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAAAAAGATAGAATCAATCAT	0.338000													4	24					0	0	0.009096	0	0
KMT2D	8085	broad.mit.edu	37	12	49434560	49434560	+	Silent	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr12:49434560C>A	ENST00000301067.7	-	31	6992	c.6993G>T	c.(6991-6993)ctG>ctT	p.L2331L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCCGAGGGGTCAGGGGGGCTT	0.637000													16	21					6.94344e-10	8.18816e-10	0.006122	1	0
GRM7	2917	broad.mit.edu	37	3	7503304	7503304	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:7503304C>T	ENST00000486284.1	+	7	1684	c.1410C>T	c.(1408-1410)aaC>aaT	p.N470N	GRM7_ENST00000403881.1_Silent_p.N470N|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Silent_p.N470N|GRM7_ENST00000357716.4_Silent_p.N470N|GRM7_ENST00000389336.4_Silent_p.N470N	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	470					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTAACAAGAACGGGGATGCAC	0.448000													5	102					0	0	0.001168	0	0
VWA7	80737	broad.mit.edu	37	6	31737788	31737788	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:31737788G>C	ENST00000375686.3	-	8	1427	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*	VWA7_ENST00000375688.4_Nonsense_Mutation_p.S397*|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Nonsense_Mutation_p.S397*	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	397						extracellular region											CTGCAGGGCTGACAGGCACAT	0.612000													3	32					0	0	0.004672	0	0
TRANK1	9881	broad.mit.edu	37	3	36896851	36896851	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:36896851G>A	ENST00000429976.2	-	12	4477	c.4230C>T	c.(4228-4230)atC>atT	p.I1410I	TRANK1_ENST00000428977.2_Silent_p.I860I|TRANK1_ENST00000301807.6_Silent_p.I860I			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1410					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGGGGTCATTGATGCATTTCA	0.557000													32	93					0	0	0.009535	0	0
STRBP	55342	broad.mit.edu	37	9	125895246	125895246	+	Splice_Site	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:125895246G>C	ENST00000447404.2	-	16	2079	c.1773_splice	c.e16-1	p.A592_splice	STRBP_ENST00000348403.5_Splice_Site_p.A592_splice|STRBP_ENST00000360998.3_Splice_Site_p.A578_splice			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	592					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						AACGCCCTTTGCCTGTTAAAA	0.428000													21	17					0	0	0.012319	0	0
GAB1	2549	broad.mit.edu	37	4	144359702	144359702	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:144359702C>T	ENST00000262995.4	+	4	1571	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	GAB1_ENST00000505913.1_Missense_Mutation_p.P279S|GAB1_ENST00000262994.4_Missense_Mutation_p.P382S	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	382					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AGGGATGTCGCCTTCACGTAG	0.443000													11	51					0	0	0.008291	0	0
SLC22A12	116085	broad.mit.edu	37	11	64367924	64367924	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:64367924C>G	ENST00000377574.1	+	8	2118	c.1371C>G	c.(1369-1371)agC>agG	p.S457R	SLC22A12_ENST00000336464.7_Missense_Mutation_p.S423R|SLC22A12_ENST00000377572.1_Missense_Mutation_p.S349R|SLC22A12_ENST00000473690.1_Missense_Mutation_p.S236R|SLC22A12_ENST00000377567.2_Missense_Mutation_p.S349R	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	457					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TCTACAGCAGCGAGCTCTTCC	0.677000													11	16					0	0	0.001368	0	0
WNT10B	7480	broad.mit.edu	37	12	49361889	49361889	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr12:49361889G>C	ENST00000301061.4	-	4	899	c.551C>G	c.(550-552)tCa>tGa	p.S184*	WNT10B_ENST00000403957.1_Intron|WNT10B_ENST00000407467.1_Intron	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	184					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						gctggggcttgagccagggcc	0.607000													21	29					0	0	0.002780	0	0
NR3C2	4306	broad.mit.edu	37	4	149002645	149002645	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:149002645C>T	ENST00000355292.3	-	9	3179	c.2817G>A	c.(2815-2817)gtG>gtA	p.V939V	NR3C2_ENST00000512865.1_Silent_p.V818V|NR3C2_ENST00000358102.3_Silent_p.V935V|NR3C2_ENST00000342437.4_3'UTR|NR3C2_ENST00000344721.4_Silent_p.V935V|NR3C2_ENST00000511528.1_Silent_p.V939V			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	935	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GCAGGTCGCTCACCAGCTGTA	0.567000													5	20					0	0	0.001168	0	0
COL4A2	1284	broad.mit.edu	37	13	111114675	111114675	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr13:111114675G>A	ENST00000360467.5	+	24	2026	c.1720G>A	c.(1720-1722)Gat>Aat	p.D574N	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	574	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAAAGGTGACGATGGCAGCCC	0.642000													14	42					0	0	0.004007	0	0
CCDC66	285331	broad.mit.edu	37	3	56627757	56627757	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:56627757G>A	ENST00000394672.3	+	9	1377	c.1307G>A	c.(1306-1308)aGt>aAt	p.S436N	CCDC66_ENST00000436465.2_Missense_Mutation_p.S436N|CCDC66_ENST00000326595.7_Missense_Mutation_p.S402N	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	436										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATGGCAAACAGTAAGAAAACA	0.378000													6	31					0	0	0.001168	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651878	128651878	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:128651878G>A	ENST00000281154.4	+	1	346	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	60					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GATCAGCCCCGAGGCGCGGTA	0.697000													6	31					0	0	0.001984	0	0
MYBPC3	4607	broad.mit.edu	37	11	47356692	47356692	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:47356692T>A	ENST00000545968.1	-	27	2860	c.2806A>T	c.(2806-2808)Acg>Tcg	p.T936S	MYBPC3_ENST00000399249.2_Missense_Mutation_p.T936S|MYBPC3_ENST00000256993.4_Missense_Mutation_p.T935S	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	935	Fibronectin type-III 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CGGGCCCCCGTGGGCAGGTCC	0.667000													17	29					0	0	0.007413	0	0
CDH18	1016	broad.mit.edu	37	5	19473630	19473630	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:19473630G>T	ENST00000507958.1	-	15	3068	c.2078C>A	c.(2077-2079)cCt>cAt	p.P693H	CDH18_ENST00000382275.1_Missense_Mutation_p.P693H|CDH18_ENST00000274170.4_Missense_Mutation_p.P693H|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	693					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTCACTTCAGGTCTGATATC	0.502000													16	69					1.3612e-06	1.51368e-06	0.003163	1	0
ADAM22	53616	broad.mit.edu	37	7	87746095	87746095	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:87746095A>C	ENST00000398204.4	+	7	896	c.573A>C	c.(571-573)agA>agC	p.R191S	ADAM22_ENST00000315984.7_Missense_Mutation_p.R191S|ADAM22_ENST00000398209.3_Missense_Mutation_p.R191S|ADAM22_ENST00000398201.4_Missense_Mutation_p.R191S|ADAM22_ENST00000439864.1_Missense_Mutation_p.R191S|ADAM22_ENST00000265727.7_Missense_Mutation_p.R191S	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	191					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACAAATCCAGACTGTTTGAAT	0.343000													5	19					0	0	0.001168	0	0
GABRB1	2560	broad.mit.edu	37	4	47033973	47033973	+	Silent	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:47033973G>T	ENST00000295454.3	+	2	415	c.123G>T	c.(121-123)gtG>gtT	p.V41V	GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_5'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	41					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGAGACAGTGGACAGATTGC	0.448000													56	166					9.53978e-28	1.26119e-27	0.003610	1	0
FRY	10129	broad.mit.edu	37	13	32749689	32749689	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr13:32749689G>A	ENST00000380250.3	+	20	2837	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	781					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACAGGATGACGACAGGCCGAT	0.453000													22	38					0	0	0.002780	0	0
NOVA1	4857	broad.mit.edu	37	14	26949326	26949326	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:26949326T>A	ENST00000539517.2	-	3	621	c.304A>T	c.(304-306)Atc>Ttc	p.I102F	NOVA1_ENST00000574031.1_Missense_Mutation_p.I102F|NOVA1_ENST00000344429.5_Missense_Mutation_p.I102F|NOVA1_ENST00000547619.1_Missense_Mutation_p.I102F|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000465357.2_Missense_Mutation_p.I102F	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	105	KH 1.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GTTCCCTGGATCAAGCACACT	0.378000													21	24					0	0	0.010504	0	0
LRIG2	9860	broad.mit.edu	37	1	113638582	113638582	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:113638582A>G	ENST00000361127.4	+	7	1088	c.890A>G	c.(889-891)aAt>aGt	p.N297S		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	297						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GTGAGCCAGAATGCTATTGAA	0.448000													5	35					0	0	0.000602	0	0
CAPN10	11132	broad.mit.edu	37	2	241528798	241528798	+	Silent	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:241528798A>T	ENST00000391984.2	+	2	376	c.180A>T	c.(178-180)ccA>ccT	p.P60P	CAPN10_ENST00000404753.3_Silent_p.P60P|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Silent_p.P60P|CAPN10_ENST00000270364.7_Silent_p.P60P|CAPN10_ENST00000354082.4_Silent_p.P60P	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	60	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CAGATGACCCACGGGAAGGGC	0.587000													17	159					0	0	0.006122	0	0
MSN	4478	broad.mit.edu	37	X	64955189	64955189	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:64955189G>T	ENST00000360270.5	+	8	1028	c.856G>T	c.(856-858)Ggg>Tgg	p.G286W		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	286	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CTTGTGCATGGGGAACCATGA	0.537000			T	ALK	ALCL								12	4					2.61681e-11	3.11961e-11	0.002450	1	0
SUPT6H	6830	broad.mit.edu	37	17	27000441	27000441	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:27000441G>A	ENST00000314616.6	+	2	305	c.22G>A	c.(22-24)Gag>Aag	p.E8K	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E8K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	8	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGTGGAAAGCGAGGCTGAGGA	0.468000													11	29					0	0	0.010729	0	0
DSP	1832	broad.mit.edu	37	6	7581116	7581116	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:7581116G>C	ENST00000379802.3	+	23	5034	c.4693G>C	c.(4693-4695)Gag>Cag	p.E1565Q	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1565	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTCTCTGAAAGAGCTGCAGCT	0.542000													16	44					0	0	0.004007	0	0
CPEB4	80315	broad.mit.edu	37	5	173359497	173359497	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:173359497A>G	ENST00000265085.5	+	3	2706	c.1252A>G	c.(1252-1254)Att>Gtt	p.I418V	CPEB4_ENST00000517880.1_Intron|CPEB4_ENST00000522336.1_Missense_Mutation_p.I36V|CPEB4_ENST00000334035.5_Intron|CPEB4_ENST00000519467.1_Intron|CPEB4_ENST00000520867.1_Intron|CPEB4_ENST00000519835.1_Intron	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	418							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTCTCTGCTTATTAATGGTAA	0.358000													21	16					0	0	0.003330	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374865	8374865	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr12:8374865G>A	ENST00000538603.1	-	7	1506	c.948C>T	c.(946-948)ccC>ccT	p.P316P	FAM90A1_ENST00000307435.6_Silent_p.P316P	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	316							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGGCGCTTTCGGGGATCTGGA	0.627000													13	61					0	0	0.001368	0	0
DGKG	1608	broad.mit.edu	37	3	186015891	186015891	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:186015891G>A	ENST00000265022.3	-	4	811	c.272C>T	c.(271-273)cCg>cTg	p.P91L	DGKG_ENST00000382164.4_Missense_Mutation_p.P91L|DGKG_ENST00000344484.4_Missense_Mutation_p.P91L|DGKG_ENST00000544847.1_Missense_Mutation_p.P91L	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	91					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCCCTCCGTCGGGTGGTCAGA	0.612000													34	89					0	0	0.002836	0	0
GAN	8139	broad.mit.edu	37	16	81348805	81348805	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr16:81348805C>G	ENST00000248272.3	+	1	249	c.87C>G	c.(85-87)ttC>ttG	p.F29L		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	29					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AGTCTCGCTTCTGCGACGCGC	0.701000													3	5					0	0	0.004672	0	0
IFI16	3428	broad.mit.edu	37	1	158984538	158984538	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:158984538G>A	ENST00000295809.7	+	2	323	c.68G>A	c.(67-69)aGa>aAa	p.R23K	IFI16_ENST00000368132.3_Missense_Mutation_p.R23K|IFI16_ENST00000368131.4_Missense_Mutation_p.R23K|IFI16_ENST00000340979.6_Missense_Mutation_p.R23K|IFI16_ENST00000430894.2_Missense_Mutation_p.R27K|IFI16_ENST00000448393.2_Missense_Mutation_p.R23K|IFI16_ENST00000359709.3_Missense_Mutation_p.R23K			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	23	DAPIN.|Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TATCATTTTAGAATGGTTAAG	0.308000													6	54					0	0	0.001168	0	0
CACTIN	58509	broad.mit.edu	37	19	3623983	3623983	+	Silent	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:3623983T>C	ENST00000429344.2	-	2	397	c.345A>G	c.(343-345)gcA>gcG	p.A115A	CACTIN_ENST00000221899.3_Silent_p.A47A|CACTIN_ENST00000248420.5_Silent_p.A115A	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		CGGAGCTGGATGCTGAGGAGC	0.726000													8	10					0	0	0.003080	0	0
PGD	5226	broad.mit.edu	37	1	10468178	10468178	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:10468178G>C	ENST00000538557.1	+	6	705	c.461G>C	c.(460-462)gGa>gCa	p.G154A	PGD_ENST00000270776.8_Missense_Mutation_p.G167A|PGD_ENST00000541529.1_Missense_Mutation_p.G145A			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	167					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GTGGGAACTGGAGAACCCTGC	0.502000													23	113					0	0	0.002780	0	0
GCC1	79571	broad.mit.edu	37	7	127224822	127224822	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:127224822C>T	ENST00000321407.2	-	1	839	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	139						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGCTAACGCCACTCTCGGAC	0.562000													15	87					0	0	0.002450	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576009	20576009	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr16:20576009G>T	ENST00000329697.6	-	2	327	c.159C>A	c.(157-159)caC>caA	p.H53Q	ACSM2B_ENST00000565232.1_Missense_Mutation_p.H53Q|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000414188.2_Missense_Mutation_p.H53Q|ACSM2B_ENST00000567001.1_Missense_Mutation_p.H53Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	53					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGTCAGCCCAGTGATCCAACA	0.438000													18	9					2.39556e-15	2.97945e-15	0.002780	1	0
ZNF676	163223	broad.mit.edu	37	19	22362910	22362910	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:22362910C>G	ENST00000397121.2	-	3	1926	c.1609G>C	c.(1609-1611)Gaa>Caa	p.E537Q		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.418000													14	43					0	0	0.003163	0	0
ZNF595	152687	broad.mit.edu	37	4	60018	60018	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:60018G>A	ENST00000509152.2	+	3	383	c.198G>A	c.(196-198)aaG>aaA	p.K66K	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.K66K					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GCAATTTGAAGATACATGAGA	0.453000													7	132					0	0	0.008291	0	0
METTL13	51603	broad.mit.edu	37	1	171753468	171753468	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:171753468G>T	ENST00000361735.3	+	2	1008	c.742G>T	c.(742-744)Gag>Tag	p.E248*	METTL13_ENST00000367737.5_Intron|METTL13_ENST00000362019.3_Nonsense_Mutation_p.E162*|METTL13_ENST00000458517.1_Nonsense_Mutation_p.E247*	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	248							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGCGGTGCAGGAGCGACAGCA	0.667000													18	45					1.02788e-11	1.23891e-11	0.004990	1	0
XRCC6	2547	broad.mit.edu	37	22	42054269	42054269	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr22:42054269G>C	ENST00000359308.4	+	10	2090	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	XRCC6_ENST00000402580.3_Missense_Mutation_p.E438Q|XRCC6_ENST00000405506.1_Missense_Mutation_p.E429Q|XRCC6_ENST00000360079.3_Missense_Mutation_p.E479Q|XRCC6_ENST00000428575.2_Missense_Mutation_p.E346Q|XRCC6_ENST00000405878.1_Missense_Mutation_p.E479Q			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	479					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TGACAGCTTTGAGAACCCCGT	0.428000								Non-homologous end-joining					8	83					0	0	0.006214	0	0
BCL2L1	598	broad.mit.edu	37	20	30309796	30309796	+	Missense_Mutation	SNP	C	C	G	rs138364013		TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr20:30309796C>G	ENST00000307677.4	-	2	636	c.226G>C	c.(226-228)Gat>Cat	p.D76H	BCL2L1_ENST00000376062.2_Missense_Mutation_p.D76H|BCL2L1_ENST00000420653.1_Missense_Mutation_p.D76H|BCL2L1_ENST00000376055.4_Missense_Mutation_p.D76H	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	76					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TCCCGGGCATCCAAACTGCTG	0.622000													20	67					0	0	0.007413	0	0
FAM135B	51059	broad.mit.edu	37	8	139164596	139164596	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr8:139164596G>C	ENST00000395297.1	-	13	2292	c.2122C>G	c.(2122-2124)Ccc>Gcc	p.P708A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	708								p.P708T(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGATCACTGGGCAACTCCAGA	0.537000										HNSCC(54;0.14)			23	12					0	0	0.002299	0	0
HIST1H2AL	8332	broad.mit.edu	37	6	27833191	27833191	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:27833191C>G	ENST00000357320.2	+	1	158	c.59C>G	c.(58-60)tCt>tGt	p.S20C		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	20					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						ACCCGCTCTTCTCGTGCCGGT	0.647000													27	82					0	0	0.007291	0	0
TMCC1	23023	broad.mit.edu	37	3	129389241	129389241	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:129389241C>A	ENST00000393238.3	-	4	1783	c.1443G>T	c.(1441-1443)gaG>gaT	p.E481D	TMCC1_ENST00000329333.5_Missense_Mutation_p.E302D|TMCC1_ENST00000426664.2_Missense_Mutation_p.E367D|TMCC1_ENST00000432054.2_Missense_Mutation_p.E157D	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	481						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCTTGAGAGTCTCAAAGGATT	0.428000													44	63					2.47872e-24	3.23776e-24	0.010771	1	0
GBP4	115361	broad.mit.edu	37	1	89652196	89652196	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:89652196C>T	ENST00000355754.6	-	10	1624	c.1527G>A	c.(1525-1527)atG>atA	p.M509I		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	509						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CTGCTTCCTTCATGGCCCGCT	0.483000													12	31					0	0	0.001368	0	0
C1orf173	127254	broad.mit.edu	37	1	75107024	75107024	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:75107024C>T	ENST00000326665.5	-	5	653	c.435G>A	c.(433-435)ccG>ccA	p.P145P		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	145								p.P145P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCAGTGCTAACGGACTGGAAT	0.428000													23	38					0	0	0.006320	0	0
USP8	9101	broad.mit.edu	37	15	50773724	50773724	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr15:50773724G>C	ENST00000433963.1	+	12	1765	c.1265G>C	c.(1264-1266)aGa>aCa	p.R422T	USP8_ENST00000307179.4_Missense_Mutation_p.R422T|USP8_ENST00000425032.3_Missense_Mutation_p.R345T|USP8_ENST00000396444.3_Missense_Mutation_p.R422T	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	422					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GAAGAGCATAGAATAAAATCT	0.378000													9	26					0	0	0.004482	0	0
GALNT2	2590	broad.mit.edu	37	1	230372141	230372141	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:230372141C>G	ENST00000366672.4	+	5	588	c.516C>G	c.(514-516)atC>atG	p.I172M	GALNT2_ENST00000541865.1_Missense_Mutation_p.I82M|GALNT2_ENST00000543760.1_Missense_Mutation_p.I134M	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	172	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AAGAAATCATCTTGGTGGATG	0.433000													30	52					0	0	0.012213	0	0
SLC13A2	9058	broad.mit.edu	37	17	26823582	26823582	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:26823582G>A	ENST00000444914.3	+	11	2152	c.1732G>A	c.(1732-1734)Ggg>Agg	p.G578R	SLC13A2_ENST00000545060.1_Missense_Mutation_p.G486R|SLC13A2_ENST00000314669.5_Missense_Mutation_p.G529R|SLC13A2_ENST00000537681.1_Missense_Mutation_p.G458R	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	529						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTTCTCTTTCGGGGACCTCAA	0.567000													15	102					0	0	0.003163	0	0
MGAT4C	25834	broad.mit.edu	37	12	86374139	86374139	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr12:86374139G>A	ENST00000604798.1	-	8	1569	c.365C>T	c.(364-366)tCa>tTa	p.S122L	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Missense_Mutation_p.S122L|MGAT4C_ENST00000549405.2_Missense_Mutation_p.S122L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.S122L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.S122L|MGAT4C_ENST00000393205.2_Missense_Mutation_p.S151L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	122					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTCAAAAATTGACTTAATTGT	0.373000													14	33					0	0	0.002450	0	0
FBXO5	26271	broad.mit.edu	37	6	153296193	153296193	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:153296193T>G	ENST00000367241.3	-	2	909	c.529A>C	c.(529-531)Att>Ctt	p.I177L	FBXO5_ENST00000229758.3_Missense_Mutation_p.I223L	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	223	Interaction with EVI5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		CTGGCTATAATTTCCTTCAGC	0.373000													30	37					0	0	0.009535	0	0
PNPT1	87178	broad.mit.edu	37	2	55912132	55912132	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:55912132G>C	ENST00000447944.2	-	4	435	c.349C>G	c.(349-351)Ctg>Gtg	p.L117V		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	117					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCTCTTCTCAGATAGTTTGTG	0.353000													21	17					0	0	0.005443	0	0
MTRR	4552	broad.mit.edu	37	5	7870910	7870910	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:7870910G>T	ENST00000264668.2	+	2	114	c.84G>T	c.(82-84)atG>atT	p.M28I	MTRR_ENST00000341013.6_Start_Codon_SNP_p.M1I|MTRR_ENST00000440940.2_Start_Codon_SNP_p.M1I|MTRR_ENST00000502509.1_Intron	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	28					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	p.M28I(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TTGAAGTGATGAGGAGGTTTC	0.403000													19	24					3.99206e-14	4.88714e-14	0.007413	1	0
PDIA6	10130	broad.mit.edu	37	2	10932003	10932003	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:10932003C>T	ENST00000404371.2	-	8	995	c.658G>A	c.(658-660)Gac>Aac	p.D220N	PDIA6_ENST00000404824.2_Missense_Mutation_p.D216N|PDIA6_ENST00000540494.1_Missense_Mutation_p.D165N|PDIA6_ENST00000381611.4_Missense_Mutation_p.D173N|PDIA6_ENST00000272227.3_Missense_Mutation_p.D168N			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	168	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TCAAAGCTGTCGTCTGTCAGC	0.398000													8	39					0	0	0.003080	0	0
SERTM1	400120	broad.mit.edu	37	13	37269436	37269436	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr13:37269436C>T	ENST00000315190.3	+	2	667	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	74	Poly-Ser.					integral to membrane											TCCTCCAGTTCCTCCTACCCA	0.448000													26	106					0	0	0.003330	0	0
USP34	9736	broad.mit.edu	37	2	61416060	61416060	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:61416060C>G	ENST00000398571.2	-	79	10094	c.10018G>C	c.(10018-10020)Gaa>Caa	p.E3340Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3340					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTTTTTCTTTCTTTGGCTTCT	0.408000													8	55					0	0	0.008291	0	0
HOXB8	3218	broad.mit.edu	37	17	46691978	46691978	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:46691978T>G	ENST00000239144.4	-	1	323	c.89A>C	c.(88-90)cAg>cCg	p.Q30P	HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.Q30P	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A29_D31delAQD(1)		large_intestine(1)|lung(8)|urinary_tract(2)	11						GCCCAGGTCCTGGGCGAAGCC	0.572000													8	7					0	0	0.003080	0	0
SLX4	84464	broad.mit.edu	37	16	3634838	3634838	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr16:3634838T>G	ENST00000294008.3	-	13	5311	c.4671A>C	c.(4669-4671)aaA>aaC	p.K1557N		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1557	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTATGGGCACTTTGGGGGGCA	0.502000								Direct reversal of damage					101	82					0	0	0.003610	0	0
RRBP1	6238	broad.mit.edu	37	20	17622538	17622538	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr20:17622538C>T	ENST00000377813.1	-	5	2391	c.2088G>A	c.(2086-2088)gcG>gcA	p.A696A	RRBP1_ENST00000377807.2_Silent_p.A263A|RRBP1_ENST00000455029.2_Silent_p.A37A|RRBP1_ENST00000360807.4_Silent_p.A263A|RRBP1_ENST00000246043.4_Silent_p.A696A			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	696					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GTTTCAGAATCGCCACAGGGT	0.547000													46	62					0	0	0.003610	0	0
SPEG	10290	broad.mit.edu	37	2	220315959	220315959	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:220315959G>A	ENST00000312358.7	+	5	2347	c.2215G>A	c.(2215-2217)Gtg>Atg	p.V739M	SPEG_ENST00000396698.1_Missense_Mutation_p.V635M|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	739	Ig-like 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGGGGCAGATGTGCTGCTCAA	0.617000													6	106					0	0	0.001168	0	0
RFTN1	23180	broad.mit.edu	37	3	16411594	16411594	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:16411594C>G	ENST00000334133.4	-	6	1291	c.1019G>C	c.(1018-1020)gGa>gCa	p.G340A	RFTN1_ENST00000432519.1_Missense_Mutation_p.G304A|RFTN1_ENST00000483671.1_5'UTR	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	340						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ATTCACTATTCCAAGGTAGAA	0.493000													13	55					0	0	0.001368	0	0
NAT10	55226	broad.mit.edu	37	11	34139952	34139952	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:34139952C>G	ENST00000257829.3	+	8	888	c.682C>G	c.(682-684)Ctt>Gtt	p.L228V	NAT10_ENST00000531159.2_Missense_Mutation_p.L156V|NAT10_ENST00000527971.1_Missense_Mutation_p.L228V	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	228						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGATGAGAGTCTTGGTCCTTC	0.552000													4	23					0	0	0.009096	0	0
ZNF573	126231	broad.mit.edu	37	19	38229543	38229543	+	Silent	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:38229543C>A	ENST00000339503.4	-	8	2175	c.1674G>T	c.(1672-1674)ggG>ggT	p.G558G	ZNF573_ENST00000590414.2_Silent_p.G616G|ZNF573_ENST00000357309.3_Silent_p.G528G|ZNF573_ENST00000392138.1_Silent_p.G529G|ZNF573_ENST00000536220.1_Silent_p.G528G	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGAAGGCCTTCCCACATTCTT	0.393000													77	31					1.07363e-35	1.45099e-35	0.003610	1	0
PFKP	5214	broad.mit.edu	37	10	3143132	3143132	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:3143132G>T	ENST00000381075.2	+	5	404	c.180G>T	c.(178-180)tgG>tgT	p.W60C	PFKP_ENST00000381125.4_Intron	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	0					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GGGGTGACTGGAGGGAGAAGC	0.547000													13	54					2.32078e-09	2.70758e-09	0.003163	1	0
PCNT	5116	broad.mit.edu	37	21	47836669	47836669	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr21:47836669C>T	ENST00000359568.5	+	30	6944	c.6837C>T	c.(6835-6837)tcC>tcT	p.S2279S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2279					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGCTTTGTTCCCCAGGCGTGT	0.687000													22	36					0	0	0.002299	0	0
RYR2	6262	broad.mit.edu	37	1	237580399	237580399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:237580399G>A	ENST00000366574.2	+	11	1141	c.824G>A	c.(823-825)tGg>tAg	p.W275*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.W273*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.W259*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	275	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGTTCCCTTTGGAGACTAGAG	0.428000													13	43					0	0	0.002450	0	0
ART5	116969	broad.mit.edu	37	11	3661095	3661095	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:3661095C>G	ENST00000397068.3	-	2	956	c.564G>C	c.(562-564)aaG>aaC	p.K188N	ART5_ENST00000397067.3_Missense_Mutation_p.K188N|ART5_ENST00000359918.4_Missense_Mutation_p.K188N	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	188						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGCCACTGCCTTATCCAGGG	0.582000													25	44					0	0	0.004656	0	0
BRWD3	254065	broad.mit.edu	37	X	79932289	79932289	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:79932289C>T	ENST00000373275.4	-	41	5444	c.5228G>A	c.(5227-5229)aGa>aAa	p.R1743K		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1743										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCGAGGCAGTCTACTGAAACG	0.423000													8	17					0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9077470	9077470	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:9077470C>T	ENST00000397910.4	-	3	10179	c.9976G>A	c.(9976-9978)Ggg>Agg	p.G3326R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3327	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACCAGTCCCTGTGATGCTT	0.517000													49	37					0	0	0.003610	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230279	140230279	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:140230279G>A	ENST00000378122.3	+	1	2923	c.2199G>A	c.(2197-2199)gcG>gcA	p.A733A	PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.A733A|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGTGCGCGCCTGGCAAGC	0.637000													37	35					0	0	0.004878	0	0
ASZ1	136991	broad.mit.edu	37	7	117021089	117021089	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:117021089G>A	ENST00000284629.2	-	9	983	c.921C>T	c.(919-921)acC>acT	p.T307T		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	307	SAM.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTTCCCTCATGGTCAAAAGAT	0.313000													17	88					0	0	0.007413	0	0
EZR	7430	broad.mit.edu	37	6	159188057	159188057	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:159188057A>T	ENST00000367075.3	-	14	1818	c.1650T>A	c.(1648-1650)aaT>aaA	p.N550K	EZR_ENST00000392177.4_Missense_Mutation_p.N518K|EZR_ENST00000337147.7_Missense_Mutation_p.N550K	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	550	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GGATGATGTCATTGTGGGTCC	0.562000			T	ROS1	NSCLC								73	98					0	0	0.003610	0	0
UVSSA	57654	broad.mit.edu	37	4	1343515	1343515	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:1343515C>T	ENST00000389851.4	+	3	749	c.302C>T	c.(301-303)cCc>cTc	p.P101L	UVSSA_ENST00000511216.1_Missense_Mutation_p.P101L|UVSSA_ENST00000507531.1_Missense_Mutation_p.P101L	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	101																	CCTCTGCCGCCCCCCAGGGAG	0.637000													19	35					0	0	0.008871	0	0
TAF1L	138474	broad.mit.edu	37	9	32633792	32633792	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:32633792G>T	ENST00000242310.4	-	1	1875	c.1786C>A	c.(1786-1788)Caa>Aaa	p.Q596K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	596					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGACCCTGTTGCTTGGGGAAA	0.483000													66	692					3.30712e-30	4.41488e-30	0.003610	1	0
ABCA8	10351	broad.mit.edu	37	17	66902184	66902184	+	Splice_Site	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:66902184C>A	ENST00000269080.2	-	17	2416		c.e17+1		ABCA8_ENST00000586539.1_Splice_Site|ABCA8_ENST00000430352.2_Splice_Site	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8							integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATTTTATTTACCCGATTCATT	0.333000													14	73					1.49906e-05	1.62398e-05	0.002450	1	0
MPDZ	8777	broad.mit.edu	37	9	13119517	13119517	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:13119517A>C	ENST00000319217.7	-	39	5610	c.5363T>G	c.(5362-5364)gTt>gGt	p.V1788G	MPDZ_ENST00000541093.1_Missense_Mutation_p.V22G|MPDZ_ENST00000541718.1_Missense_Mutation_p.V1788G|MPDZ_ENST00000381022.2_Missense_Mutation_p.V1788G|MPDZ_ENST00000546205.1_Missense_Mutation_p.V1802G|MPDZ_ENST00000536827.1_Missense_Mutation_p.V1755G|MPDZ_ENST00000538841.1_Missense_Mutation_p.V647G|MPDZ_ENST00000381015.4_Missense_Mutation_p.V1788G|MPDZ_ENST00000447879.1_Missense_Mutation_p.V1755G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1788	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAAAGCGGCAACCGCTTCTTG	0.393000													11	34					0	0	0.008291	0	0
NDC80	10403	broad.mit.edu	37	18	2610858	2610858	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr18:2610858G>A	ENST00000261597.4	+	16	1971	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	597	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TGGGTCTGTAGAGGTAAGTAT	0.348000													28	71					0	0	0.005443	0	0
RAD50	10111	broad.mit.edu	37	5	131973867	131973867	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:131973867G>A	ENST00000378823.3	+	23	3971	c.3153G>A	c.(3151-3153)aaG>aaA	p.K1051K	AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000457489.1_RNA|AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000417516.1_RNA|RAD50_ENST00000265335.6_Silent_p.K1190K	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1190					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGATGCTGAAGGGAGACACAG	0.453000								Homologous recombination					7	13					0	0	0.003080	0	0
FAM83B	222584	broad.mit.edu	37	6	54806260	54806260	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:54806260A>G	ENST00000306858.7	+	5	2607	c.2491A>G	c.(2491-2493)Aag>Gag	p.K831E		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	831										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCCTAGAAGAAAGCATTCTTC	0.378000													9	26					0	0	0.004482	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526212	176526212	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:176526212G>C	ENST00000367662.3	+	2	1918	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E252Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	252					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCGAGAAGCAGAGACCTTTAA	0.547000													18	61					0	0	0.006122	0	0
GALNT13	114805	broad.mit.edu	37	2	155098581	155098581	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:155098581C>T	ENST00000392825.3	+	5	917	c.350C>T	c.(349-351)aCa>aTa	p.T117I	GALNT13_ENST00000409237.1_Missense_Mutation_p.T117I	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	117	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CTTCCAAACACAAGTGTAGTC	0.353000													13	18					0	0	0.001855	0	0
PLK1	5347	broad.mit.edu	37	16	23690396	23690396	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr16:23690396G>A	ENST00000300093.4	+	1	254	c.143G>A	c.(142-144)cGc>cAc	p.R48H	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GTGGACCCACGCAGCCGGCGG	0.697000													11	11					0	0	0.001368	0	0
C6orf118	168090	broad.mit.edu	37	6	165713854	165713854	+	Splice_Site	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:165713854T>A	ENST00000543069.1	-	3	1144	c.564_splice	c.e3+1	p.K188_splice	C6orf118_ENST00000230301.8_Splice_Site_p.K292_splice			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	292										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GTTTCTTACCTTAACTTTTTT	0.393000													10	87					0	0	0.010729	0	0
RBAK	57786	broad.mit.edu	37	7	5104216	5104216	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:5104216G>A	ENST00000396912.1	+	5	1648	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.E377K	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	377					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TCCATGTAACGAATGTGGGAA	0.468000													24	127					0	0	0.003954	0	0
ACSS2	55902	broad.mit.edu	37	20	33500968	33500968	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr20:33500968C>T	ENST00000360596.2	+	3	655	c.444C>T	c.(442-444)ttC>ttT	p.F148F	ACSS2_ENST00000253382.5_Silent_p.F148F|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Silent_p.F98F	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	148					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTGTCAGTTCAGCAATGTTC	0.532000													14	81					0	0	0.001855	0	0
PLA2R1	22925	broad.mit.edu	37	2	160898542	160898542	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:160898542C>A	ENST00000283243.7	-	3	867	c.661G>T	c.(661-663)Gat>Tat	p.D221Y	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D221Y	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	221	Fibronectin type-II.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTACTGGGATCAGGGCAAAAT	0.393000													53	42					2.01871e-26	2.65594e-26	0.003610	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140773984	140773984	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:140773984G>T	ENST00000398604.2	+	1	1604	c.1604G>T	c.(1603-1605)aGc>aTc	p.S535I	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAACAGCCAGCGACAGCGGG	0.587000													21	91					3.8784e-16	4.84579e-16	0.012319	1	0
CCDC54	84692	broad.mit.edu	37	3	107096565	107096565	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:107096565G>A	ENST00000261058.1	+	1	378	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	44										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GATTCAACTGGATATCCCACT	0.398000													27	53					0	0	0.008361	0	0
NALCN	259232	broad.mit.edu	37	13	101763510	101763510	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr13:101763510G>A	ENST00000251127.6	-	19	2341	c.2260C>T	c.(2260-2262)Ctc>Ttc	p.L754F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	754						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGCACGCTGAGGATTGACCTC	0.512000													33	147					0	0	0.004878	0	0
OTOGL	283310	broad.mit.edu	37	12	80750290	80750290	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr12:80750290G>C	ENST00000458043.2	+	47	5880	c.5874G>C	c.(5872-5874)caG>caC	p.Q1958H	OTOGL_ENST00000546620.1_5'UTR|OTOGL_ENST00000547103.1_Missense_Mutation_p.Q1946H	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCTGTCCACAGTACAAATGTG	0.353000													20	39					0	0	0.010504	0	0
TENM1	10178	broad.mit.edu	37	X	123517897	123517897	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:123517897C>T	ENST00000422452.2	-	30	6947	c.6884G>A	c.(6883-6885)aGc>aAc	p.S2295N	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.S2288N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AATCTCCGAGCTTGTGTGGTT	0.443000													49	32					0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995288	140995288	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:140995288G>A	ENST00000285879.4	+	4	2384	c.2098G>A	c.(2098-2100)Gag>Aag	p.E700K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	700							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCCTCTTGAGGGAGAGGA	0.562000										HNSCC(15;0.026)			27	66					0	0	0.004656	0	0
HOXA5	3202	broad.mit.edu	37	7	27181551	27181551	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:27181551A>G	ENST00000222726.3	-	2	776	c.716T>C	c.(715-717)aTt>aCt	p.I239T	HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000467897.2_Intron	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	239					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CCAGATTTTAATTTGTCTCTC	0.498000											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	94					0	0	0.003610	0	0
MUC3A	4584	broad.mit.edu	37	7	100552254	100552254	+	Silent	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:100552254C>A	ENST00000319509.7	+	1	1005	c.1005C>A	c.(1003-1005)ccC>ccA	p.P335P						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTGCCTCTCCCACTGATCCAT	0.483000													40	357					6.99958e-10	8.23657e-10	0.006999	1	0
ATOH1	474	broad.mit.edu	37	4	94750827	94750827	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:94750827C>A	ENST00000306011.3	+	1	786	c.750C>A	c.(748-750)aaC>aaA	p.N250K		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	250					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GCGCGGGCAACGCGACCGCAG	0.726000													15	12					0.000219431	0.000231293	0.002450	1	0
DCDC1	341019	broad.mit.edu	37	11	30946861	30946861	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:30946861C>A	ENST00000597505.1	-	21	2991	c.2992G>T	c.(2992-2994)Gaa>Taa	p.E998*	DCDC1_ENST00000339794.5_Nonsense_Mutation_p.E77*|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	233					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTTACCAGTTCATCTCTTTGC	0.348000													36	72					1.07637e-12	1.30599e-12	0.004878	1	0
GLDC	2731	broad.mit.edu	37	9	6602126	6602126	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:6602126T>A	ENST00000321612.6	-	8	1288	c.1138A>T	c.(1138-1140)Aac>Tac	p.N380Y		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	380					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GTACAGATGTTGCTGGTAGCC	0.438000													8	21					0	0	0.004482	0	0
CRLF1	9244	broad.mit.edu	37	19	18710483	18710483	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:18710483C>A	ENST00000392386.3	-	2	482	c.289G>T	c.(289-291)Gct>Tct	p.A97S		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	97	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGGGCCAGAGCCAAGGTGGAG	0.692000													7	7					0.00198382	0.00205534	0.001984	1	0
C10orf12	26148	broad.mit.edu	37	10	98743574	98743574	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:98743574G>A	ENST00000286067.2	+	1	2534	c.2427G>A	c.(2425-2427)atG>atA	p.M809I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	809										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCCAGTACATGAAAGTTCAGA	0.453000													9	20					0	0	0.006214	0	0
ZNF707	286075	broad.mit.edu	37	8	144776287	144776287	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr8:144776287G>A	ENST00000532205.1	+	8	1602	c.703G>A	c.(703-705)Gag>Aag	p.E235K	ZNF707_ENST00000454097.1_Missense_Mutation_p.E235K|ZNF707_ENST00000358656.4_Missense_Mutation_p.E235K|ZNF707_ENST00000418203.2_Missense_Mutation_p.E235K|ZNF707_ENST00000532158.1_Missense_Mutation_p.E235K			Q96C28	ZN707_HUMAN	zinc finger protein 707	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTTCTGCTGCGAGGCCTGCGG	0.662000													4	12					0	0	0.009096	0	0
FAM154A	158297	broad.mit.edu	37	9	18928121	18928121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:18928121G>A	ENST00000380534.4	-	4	1633	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Nonsense_Mutation_p.Q260*	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	452										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTGCTCTGCTGAGAGCCTGCC	0.453000													19	32					0	0	0.006122	0	0
MYLK	4638	broad.mit.edu	37	3	123357040	123357040	+	Splice_Site	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:123357040C>T	ENST00000360772.3	-	30	5217	c.4837_splice	c.e30-1	p.E1613_splice	MYLK_ENST00000475616.1_Splice_Site_p.E1613_splice|MYLK_ENST00000360304.3_Splice_Site_p.E1613_splice|MYLK_ENST00000359169.1_Splice_Site_p.E1613_splice|MYLK_ENST00000354792.5_Splice_Site_p.E413_splice|MYLK_ENST00000346322.5_Splice_Site_p.E1544_splice|MYLK-AS1_ENST00000485162.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1613	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACCCCGCATTCTCTGAAACCA	0.552000													8	42					0	0	0.003080	0	0
OMD	4958	broad.mit.edu	37	9	95179237	95179237	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:95179237G>A	ENST00000375550.4	-	2	879	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	202					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TCTTTTAGCAGAGAATCATGA	0.378000			T	USP6	aneurysmal bone cysts								19	47					0	0	0.006122	0	0
KLHDC2	23588	broad.mit.edu	37	14	50245146	50245146	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:50245146A>T	ENST00000298307.5	+	6	1428	c.567A>T	c.(565-567)agA>agT	p.R189S	KLHDC2_ENST00000557247.1_Missense_Mutation_p.R189S|KLHDC2_ENST00000554589.1_Missense_Mutation_p.R189S	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	189						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GTCATCCAAGAGGATGGAATG	0.318000													14	18					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9082874	9082874	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:9082874C>A	ENST00000397910.4	-	1	9144	c.8941G>T	c.(8941-8943)Gga>Tga	p.G2981*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2982	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCCCTGTTCCTGAAGTGGGG	0.498000													47	53					6.81593e-30	9.05474e-30	0.003610	1	0
GJA8	2703	broad.mit.edu	37	1	147380719	147380719	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:147380719G>T	ENST00000240986.4	+	2	690	c.637G>T	c.(637-639)Gcc>Tcc	p.A213S	GJA8_ENST00000369235.1_Missense_Mutation_p.A213S	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	213					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GTTGTCTGTGGCCTCTGTGTC	0.607000													31	55					1.61788e-16	2.02606e-16	0.012213	1	0
RUNX1T1	862	broad.mit.edu	37	8	93088214	93088214	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr8:93088214C>T	ENST00000523629.1	-	2	521	c.67G>A	c.(67-69)Ggg>Agg	p.G23R	RUNX1T1_ENST00000518844.1_5'UTR|RUNX1T1_ENST00000436581.2_Intron|RUNX1T1_ENST00000360348.2_Intron|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.G23R|RUNX1T1_ENST00000522163.1_5'UTR|RUNX1T1_ENST00000520724.1_Intron	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	23					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCAAAGTTCCCTTTTTTCCGG	0.343000													35	31					0	0	0.003755	0	0
VPS13D	55187	broad.mit.edu	37	1	12383832	12383832	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:12383832G>C	ENST00000358136.3	+	35	8115	c.7985G>C	c.(7984-7986)tGt>tCt	p.C2662S	VPS13D_ENST00000356315.4_Missense_Mutation_p.C2662S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2662	UBA.				protein localization					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)		CTTTTGGCGTGTCAAGGTAAT	0.423000													19	47					0	0	0.010504	0	0
SYNE2	23224	broad.mit.edu	37	14	64494420	64494420	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:64494420A>T	ENST00000358025.3	+	43	6853	c.6623A>T	c.(6622-6624)tAc>tTc	p.Y2208F	SYNE2_ENST00000554584.1_Missense_Mutation_p.Y2208F|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.Y2208F	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2208					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGGGAAACTACCTCTTGGAG	0.418000													15	20					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179605651	179605651	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:179605651C>G	ENST00000589042.1	-	48	12533	c.12309G>C	c.(12307-12309)ttG>ttC	p.L4103F	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L3786F|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.L3865F|TTN_ENST00000342175.6_Missense_Mutation_p.L3932F|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L3740F|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3786							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGACTGCTCAATTCATTGG	0.398000													21	91					0	0	0.008871	0	0
RAB40AL	282808	broad.mit.edu	37	X	102192642	102192642	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:102192642C>T	ENST00000218249.5	+	1	443	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	132					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						ATCTGGCATTCAAGAGGCAGG	0.552000													15	22					0	0	0.010504	0	0
ST18	9705	broad.mit.edu	37	8	53084928	53084928	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr8:53084928C>G	ENST00000276480.7	-	10	1176	c.493G>C	c.(493-495)Gac>Cac	p.D165H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	165						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AAGCACTCGTCTGCTTCATCG	0.398000													7	52					0	0	0.003080	0	0
HEXIM1	10614	broad.mit.edu	37	17	43226847	43226847	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:43226847C>T	ENST00000332499.2	+	1	2164	c.290C>T	c.(289-291)tCg>tTg	p.S97L		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	97					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGGACGACTCGTCCGCTGGC	0.652000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	22					0	0	0.001984	0	0
IL7R	3575	broad.mit.edu	37	5	35867450	35867450	+	Silent	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:35867450A>G	ENST00000303115.3	+	3	393	c.264A>G	c.(262-264)ctA>ctG	p.L88L	IL7R_ENST00000506850.1_Silent_p.L88L|IL7R_ENST00000511982.1_Silent_p.L88L|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000343305.4_Silent_p.L88L	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	88					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCAGGAAACTACAAGAGATAT	0.398000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						7	34					0	0	0.001984	0	0
NEK10	152110	broad.mit.edu	37	3	27243978	27243978	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:27243978G>T	ENST00000429845.2	-	25	2523	c.2161C>A	c.(2161-2163)Cag>Aag	p.Q721K	NEK10_ENST00000383770.3_Missense_Mutation_p.Q33K|NEK10_ENST00000383771.4_Missense_Mutation_p.Q33K|NEK10_ENST00000295720.6_Missense_Mutation_p.Q33K|NEK10_ENST00000357467.2_Missense_Mutation_p.Q118K			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	721							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTCGCCATCTGATAAAGGATG	0.493000													6	35					0.00198382	0.00205534	0.001984	1	0
MGAT4B	11282	broad.mit.edu	37	5	179225515	179225515	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:179225515C>T	ENST00000337755.5	-	11	2351	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N	MGAT4B_ENST00000292591.7_Missense_Mutation_p.D474N	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	474					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAACTTACGTCGAAGGGCAGC	0.607000													6	26					0	0	0.001984	0	0
NOP14	8602	broad.mit.edu	37	4	2945798	2945798	+	Splice_Site	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:2945798A>T	ENST00000416614.2	-	13	1957		c.e13+1		NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000314262.6_Splice_Site|NOP14_ENST00000398071.4_Splice_Site|NOP14_ENST00000502735.1_Splice_Site|NOP14-AS1_ENST00000505731.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						AAATCAACTCACCTTGGCTTG	0.353000													15	29					0	0	0.002450	0	0
ICOSLG	23308	broad.mit.edu	37	21	45651216	45651216	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr21:45651216G>A	ENST00000407780.3	-	5	936	c.809C>T	c.(808-810)gCg>gTg	p.A270V	ICOSLG_ENST00000400377.3_Missense_Mutation_p.A153V|ICOSLG_ENST00000400379.3_Missense_Mutation_p.A270V|ICOSLG_ENST00000344330.4_Missense_Mutation_p.A270V			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	270					B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TATGGCCACCGCCACGACCAC	0.572000													24	52					0	0	0.003330	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554444	140554444	+	Silent	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:140554444G>T	ENST00000231137.3	+	1	2202	c.2028G>T	c.(2026-2028)gcG>gcT	p.A676A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		676					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCGGAGGCGGCCCCGGACC	0.692000													40	99					9.84934e-19	1.25355e-18	0.010771	1	0
AIM2	9447	broad.mit.edu	37	1	159036039	159036039	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:159036039C>T	ENST00000368130.4	-	4	765	c.477G>A	c.(475-477)ctG>ctA	p.L159L	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	159	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TCTTTGCTTTCAGTACCATAA	0.443000													10	96					0	0	0.006214	0	0
ZIC1	7545	broad.mit.edu	37	3	147128441	147128441	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:147128441T>A	ENST00000282928.4	+	1	1271	c.542T>A	c.(541-543)gTg>gAg	p.V181E		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	181					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TACGGCCAGGTGACCAGCCCG	0.687000													6	28					0	0	0.001984	0	0
LTF	4057	broad.mit.edu	37	3	46496868	46496868	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:46496868C>T	ENST00000231751.4	-	5	859	c.564G>A	c.(562-564)ctG>ctA	p.L188L	LTF_ENST00000426532.2_Silent_p.L144L|LTF_ENST00000417439.1_Silent_p.L188L	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	188	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ACAGGCGACACAGGTTGGGGA	0.552000													12	28					0	0	0.010729	0	0
ZIM3	114026	broad.mit.edu	37	19	57646645	57646645	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:57646645C>A	ENST00000269834.1	-	5	1445	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAATTTTCTCATGATCGATG	0.383000													73	46					7.59065e-32	1.0183e-31	0.003610	1	0
APBB1IP	54518	broad.mit.edu	37	10	26849724	26849724	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:26849724G>T	ENST00000376236.4	+	13	1775	c.1320G>T	c.(1318-1320)tgG>tgT	p.W440C		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	440					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CCTCTCGGTGGACAAACTTGG	0.498000													8	56					0.000442599	0.000462949	0.006214	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769504	31769504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:31769504G>A	ENST00000240587.4	-	2	1522	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	399					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGAGCTCCTGCAGGGTGTCA	0.572000													118	75					0	0	0.003610	0	0
KLHL32	114792	broad.mit.edu	37	6	97562061	97562061	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:97562061A>G	ENST00000369261.4	+	7	1393	c.1030A>G	c.(1030-1032)Atg>Gtg	p.M344V	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.M308V|KLHL32_ENST00000539200.1_Missense_Mutation_p.M275V	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	344										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGTGGCAGTCATGGGGGACTT	0.572000													6	68					0	0	0.001168	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188961	140188961	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:140188961G>C	ENST00000530339.1	+	1	2189	c.2189G>C	c.(2188-2190)gGc>gCc	p.G730A	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G730A|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G730A|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1												p.G730D(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACCGAGGGCGCGTGCGCT	0.662000													26	35					0	0	0.004656	0	0
CTTN	2017	broad.mit.edu	37	11	70279327	70279327	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:70279327G>C	ENST00000346329.3	+	15	1584	c.1276G>C	c.(1276-1278)Gcc>Ccc	p.A426P	CTTN_ENST00000376561.3_Missense_Mutation_p.A426P|CTTN_ENST00000301843.8_Missense_Mutation_p.A463P|CTTN_ENST00000538675.1_Missense_Mutation_p.A147P	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	463						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	p.A463T(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GCAGGGCCTGGCCTATGCCAC	0.682000													11	32					0	0	0.008291	0	0
OR10S1	219873	broad.mit.edu	37	11	123847664	123847664	+	Silent	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:123847664G>T	ENST00000531945.1	-	1	824	c.735C>A	c.(733-735)gcC>gcA	p.A245A		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCCGGCCCTGGGCTGTGCGGA	0.607000													34	68					6.05902e-23	7.89552e-23	0.003755	1	0
LTBP2	4053	broad.mit.edu	37	14	74970292	74970292	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:74970292C>T	ENST00000261978.4	-	32	4986	c.4600G>A	c.(4600-4602)Gac>Aac	p.D1534N	LTBP2_ENST00000556690.1_Missense_Mutation_p.D1490N	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1534	EGF-like 18; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGGCCAGGTCCTGGCACTCA	0.622000													6	7					0	0	0.001168	0	0
TTC8	123016	broad.mit.edu	37	14	89291101	89291101	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:89291101G>T	ENST00000338104.6	+	1	102	c.50G>T	c.(49-51)cGc>cTc	p.R17L	TTC8_ENST00000346301.4_Missense_Mutation_p.R17L|TTC8_ENST00000345383.5_Missense_Mutation_p.R17L|TTC8_ENST00000380656.2_Missense_Mutation_p.R17L|TTC8_ENST00000354441.6_Missense_Mutation_p.R17L|TTC8_ENST00000536576.1_5'UTR			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	17					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TATTTTAGGCGCAGGAAGTTC	0.642000													5	10					3.59834e-05	3.8675e-05	0.001168	1	0
KNG1	3827	broad.mit.edu	37	3	186459574	186459574	+	Silent	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:186459574T>C	ENST00000265023.4	+	10	1601	c.1389T>C	c.(1387-1389)caT>caC	p.H463H	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	463	His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GCCTTGGCCATGGACACGAAC	0.478000													8	20					0	0	0.006214	0	0
SAFB	6294	broad.mit.edu	37	19	5654150	5654150	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:5654150G>C	ENST00000292123.5	+	12	1712	c.1605G>C	c.(1603-1605)aaG>aaC	p.K535N	SAFB_ENST00000538656.1_Missense_Mutation_p.K378N|SAFB_ENST00000433404.1_Missense_Mutation_p.K365N|SAFB_ENST00000454510.1_Missense_Mutation_p.K466N|SAFB_ENST00000592224.1_Missense_Mutation_p.K535N|SAFB_ENST00000588852.1_Missense_Mutation_p.K535N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	535	Interaction with POLR2A.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GTGGAGAAAAGAGTAAGGACC	0.458000													14	15					0	0	0.002450	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766341	77766341	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr8:77766341C>A	ENST00000521891.2	+	10	7632	c.7184C>A	c.(7183-7185)cCc>cAc	p.P2395H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2350H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2350H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2369H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2350	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTCCATCACCCAAACCAGAA	0.547000										HNSCC(33;0.089)			29	53					5.61819e-17	7.06804e-17	0.005443	1	0
AMPH	273	broad.mit.edu	37	7	38433708	38433708	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:38433708C>A	ENST00000356264.2	-	18	1720	c.1505G>T	c.(1504-1506)gGg>gTg	p.G502V	AMPH_ENST00000428293.2_Missense_Mutation_p.G460V|AMPH_ENST00000325590.5_Missense_Mutation_p.G460V|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	502					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TACTCCTTCCCCGGCAGGGAC	0.582000													76	116					7.31121e-38	9.93015e-38	0.003610	1	0
RREB1	6239	broad.mit.edu	37	6	7229349	7229349	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:7229349G>A	ENST00000379938.2	+	10	1554	c.1017G>A	c.(1015-1017)gtG>gtA	p.V339V	RREB1_ENST00000334984.6_Silent_p.V339V|RREB1_ENST00000349384.6_Silent_p.V339V|RREB1_ENST00000379933.3_Silent_p.V339V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	339					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGACCCATGTGGCGGCAGACC	0.627000													6	29					0	0	0.001984	0	0
MED1	5469	broad.mit.edu	37	17	37584015	37584015	+	Silent	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:37584015G>C	ENST00000300651.6	-	10	901	c.678C>G	c.(676-678)gtC>gtG	p.V226V	MED1_ENST00000394287.3_Silent_p.V226V	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	226	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CAGAAGGAGAGACATAGTACT	0.308000										HNSCC(31;0.082)			7	25					0	0	0.004482	0	0
IGLV5-37	28783	broad.mit.edu	37	22	22782134	22782134	+	RNA	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr22:22782134C>T	ENST00000390300.2	+	0	137																											GCACCTTGCCCAGTGACATCA	0.542000													37	93					0	0	0.006230	0	0
POLQ	10721	broad.mit.edu	37	3	121202241	121202241	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:121202241C>G	ENST00000264233.5	-	18	6090	c.5962G>C	c.(5962-5964)Gat>Cat	p.D1988H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1988					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACCTTAGGATCTTCATAACTT	0.299000								DNA polymerases (catalytic subunits)					4	22					0	0	0.009096	0	0
RAVER1	125950	broad.mit.edu	37	19	10431489	10431489	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:10431489G>C	ENST00000293677.6	-	9	1744	c.1663C>G	c.(1663-1665)Cca>Gca	p.P555A		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	553						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCCTCAGCTGGGCGGCGGCTT	0.697000													5	11					0	0	0.000602	0	0
TRAF2	7186	broad.mit.edu	37	9	139794921	139794921	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:139794921C>T	ENST00000359662.3	+	4	360	c.315C>T	c.(313-315)gcC>gcT	p.A105A	TRAF2_ENST00000247668.2_Silent_p.A105A|TRAF2_ENST00000536468.1_Silent_p.A105A			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	105					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GCCTGCCGGCCGTCTGTCCCA	0.597000													3	20					0	0	0.009096	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908564	164908564	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:164908564G>T	ENST00000475390.1	-	2	498	c.55C>A	c.(55-57)Ctt>Att	p.L19I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L19I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	19						integral to membrane		p.L19I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTGCTTAGAAGAATTATCCAC	0.418000										HNSCC(40;0.11)			10	25					4.68919e-08	5.33395e-08	0.008291	1	0
ABCB7	22	broad.mit.edu	37	X	74280087	74280087	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:74280087C>G	ENST00000253577.3	-	15	2041	c.2017G>C	c.(2017-2019)Gat>Cat	p.D673H	ABCB7_ENST00000373394.3_Missense_Mutation_p.D672H|ABCB7_ENST00000339447.4_Missense_Mutation_p.D632H	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	672	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TCATCTGCATCAACCACTGTT	0.348000													5	14					0	0	0.001168	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803303	185803303	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:185803303G>T	ENST00000302277.6	+	4	3774	c.3180G>T	c.(3178-3180)atG>atT	p.M1060I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1060						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGCCAAACATGCTGGCCAACA	0.468000													80	41					2.05912e-35	2.776e-35	0.003610	1	0
RBPJ	3516	broad.mit.edu	37	4	26432131	26432131	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:26432131G>C	ENST00000342320.4	+	10	1308	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q	RBPJ_ENST00000348160.4_Missense_Mutation_p.E379Q|RBPJ_ENST00000507561.1_Missense_Mutation_p.E357Q|RBPJ_ENST00000504907.1_Intron|RBPJ_ENST00000345843.3_Missense_Mutation_p.E377Q|RBPJ_ENST00000361572.6_Missense_Mutation_p.E392Q|RBPJ_ENST00000355476.3_Missense_Mutation_p.E378Q|RBPJ_ENST00000342295.1_Missense_Mutation_p.E392Q			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	392	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGTAGAAGCTGAAACTATGTA	0.428000													7	49					0	0	0.004482	0	0
EPHA3	2042	broad.mit.edu	37	3	89498443	89498443	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:89498443C>G	ENST00000336596.2	+	14	2640	c.2415C>G	c.(2413-2415)agC>agG	p.S805R	EPHA3_ENST00000494014.1_Missense_Mutation_p.S805R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	805	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGTCAGCCAGCGATGTATGGA	0.438000										TSP Lung(6;0.00050)			13	60					0	0	0.002450	0	0
ANKS1A	23294	broad.mit.edu	37	6	35053622	35053622	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:35053622C>T	ENST00000360359.3	+	22	3350	c.3212C>T	c.(3211-3213)tCc>tTc	p.S1071F	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	1071	PID.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCCCAGAAGTCCAGGGCGACG	0.592000													6	37					0	0	0.001168	0	0
CT47B1	643311	broad.mit.edu	37	X	120009314	120009314	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:120009314C>T	ENST00000371311.3	-	1	465	c.211G>A	c.(211-213)Ggc>Agc	p.G71S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	71										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCGGCCAGGCCTGCCGCCTGC	0.731000													25	15					0	0	0.004656	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725348	26725348	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:26725348A>T	ENST00000396005.3	-	5	981	c.672T>A	c.(670-672)caT>caA	p.H224Q	SLC5A12_ENST00000280467.6_Missense_Mutation_p.H224Q	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	224					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ACTCAAATATATGTAGTCGAG	0.358000													42	76					0	0	0.007835	0	0
MROH2B	133558	broad.mit.edu	37	5	41004621	41004621	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:41004621G>A	ENST00000399564.4	-	37	4471	c.4021C>T	c.(4021-4023)Cat>Tat	p.H1341Y	MROH2B_ENST00000506092.2_Missense_Mutation_p.H896Y	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AACTGCTTATGTTTCTTCACC	0.393000													10	22					0	0	0.006214	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268017	21268017	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:21268017G>C	ENST00000602326.1	-	12	2063	c.1480C>G	c.(1480-1482)Caa>Gaa	p.Q494E	EIF4G3_ENST00000264211.8_Missense_Mutation_p.Q488E|EIF4G3_ENST00000400422.1_Missense_Mutation_p.Q488E|EIF4G3_ENST00000374927.4_Missense_Mutation_p.Q488E|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000544689.1_5'UTR|EIF4G3_ENST00000374937.3_Missense_Mutation_p.Q494E|EIF4G3_ENST00000356916.3_Missense_Mutation_p.Q499E|EIF4G3_ENST00000536266.1_Missense_Mutation_p.Q92E	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	488					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.Q494E(1)|p.Q488E(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTTAAGTTTTGAGAATCCAAA	0.408000													21	112					0	0	0.008871	0	0
AP5M1	55745	broad.mit.edu	37	14	57741544	57741544	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:57741544C>T	ENST00000261558.3	+	2	1063	c.657C>T	c.(655-657)tcC>tcT	p.S219S	AP5M1_ENST00000431972.2_Silent_p.S233S	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	219	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											AGGTAAAATCCATGCAATATG	0.393000													20	29					0	0	0.012319	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591188	125591188	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:125591188T>C	ENST00000504087.1	-	4	4281	c.3244A>G	c.(3244-3246)Atg>Gtg	p.M1082V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.M903V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1082										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCAACACGCATAGCAGTGCGT	0.423000													11	44					0	0	0.008291	0	0
RIC3	79608	broad.mit.edu	37	11	8158962	8158962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:8158962C>A	ENST00000343202.4	-	4	549	c.484G>T	c.(484-486)Gaa>Taa	p.E162*	RIC3_ENST00000309737.6_Nonsense_Mutation_p.E162*|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000539720.1_Nonsense_Mutation_p.E113*	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	162						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATTAATTTTTCCATGGCTGCT	0.403000													14	96					9.31168e-06	1.01684e-05	0.001855	1	0
OR8D4	338662	broad.mit.edu	37	11	123777259	123777259	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:123777259G>T	ENST00000321355.2	+	1	151	c.121G>T	c.(121-123)Gga>Tga	p.G41*		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TACTGTGGTGGGAAACCTCAG	0.413000													25	100					1.42536e-11	1.71043e-11	0.004656	1	0
NAALAD2	10003	broad.mit.edu	37	11	89885504	89885504	+	Silent	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:89885504C>A	ENST00000534061.1	+	6	878	c.648C>A	c.(646-648)atC>atA	p.I216I	NAALAD2_ENST00000525171.1_Silent_p.I216I|NAALAD2_ENST00000375944.3_Silent_p.I216I|NAALAD2_ENST00000321955.4_Silent_p.I216I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	216					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TAGGAATCATCTTGTACTCAG	0.438000													16	40					1.99824e-07	2.25888e-07	0.004990	1	0
POGZ	23126	broad.mit.edu	37	1	151380974	151380974	+	Silent	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:151380974T>A	ENST00000271715.2	-	14	2459	c.2145A>T	c.(2143-2145)gcA>gcT	p.A715A	POGZ_ENST00000361398.3_Silent_p.A662A|POGZ_ENST00000531094.1_Silent_p.A653A|POGZ_ENST00000491586.1_Silent_p.A671A|POGZ_ENST00000409503.1_Silent_p.A706A|POGZ_ENST00000392723.1_Silent_p.A662A|POGZ_ENST00000540984.1_Silent_p.A77A|POGZ_ENST00000368863.2_Silent_p.A620A	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	715					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCAGCGGTGCTGCCTCCTGCA	0.567000													41	70					0	0	0.005524	0	0
DNAH10	196385	broad.mit.edu	37	12	124397651	124397651	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr12:124397651A>T	ENST00000409039.3	+	59	9812	c.9787A>T	c.(9787-9789)Agg>Tgg	p.R3263W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3263	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTAGGTGGCCAGGCTGGAGCG	0.498000													5	13					0	0	0.000602	0	0
THSD7B	80731	broad.mit.edu	37	2	137814327	137814327	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:137814327C>G	ENST00000409968.1	+	3	655	c.477C>G	c.(475-477)tgC>tgG	p.C159W	THSD7B_ENST00000272643.3_Missense_Mutation_p.C159W|THSD7B_ENST00000413152.2_Missense_Mutation_p.C128W|THSD7B_ENST00000543459.1_Missense_Mutation_p.C18W					thrombospondin, type I, domain containing 7B									p.C159C(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATGAAATATGCGAACACTTTG	0.522000													86	94					0	0	0.003610	0	0
EPRS	2058	broad.mit.edu	37	1	220156114	220156114	+	Splice_Site	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:220156114C>G	ENST00000366923.3	-	23	3642	c.3373_splice	c.e23+1	p.V1125_splice		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1125	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CTATTCTCACCTGTTTCACTA	0.413000													45	104					0	0	0.003610	0	0
LRRC16B	90668	broad.mit.edu	37	14	24528901	24528901	+	Translation_Start_Site	SNP	T	T	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:24528901T>G	ENST00000334420.7	+	0	1985				LRRC16B_ENST00000342740.5_Missense_Mutation_p.S610A			Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAACAATACATCTGCCCTGGG	0.597000													9	14					0	0	0.006214	0	0
CASKIN1	57524	broad.mit.edu	37	16	2233834	2233834	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr16:2233834C>T	ENST00000343516.6	-	15	1617	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	CASKIN1_ENST00000564289.1_Intron	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	509	SAM 1.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AAGCTCACCTCGGGAGTCATG	0.667000													12	54					0	0	0.010729	0	0
DDX60L	91351	broad.mit.edu	37	4	169362539	169362539	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:169362539G>C	ENST00000511577.1	-	10	1490	c.1243C>G	c.(1243-1245)Ctg>Gtg	p.L415V	DDX60L_ENST00000505890.1_Missense_Mutation_p.L415V|DDX60L_ENST00000260184.7_Missense_Mutation_p.L415V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	415							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTTGTTCTCAGAGGAAAAGAC	0.368000													22	48					0	0	0.012319	0	0
MUC5B	727897	broad.mit.edu	37	11	1265880	1265880	+	Silent	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:1265880C>G	ENST00000447027.1	+	31	7837	c.7779C>G	c.(7777-7779)acC>acG	p.T2593T	MUC5B_ENST00000529681.1_Silent_p.T2590T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2590	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGGGCCACCGGCTCTGTGG	0.647000													73	144					0	0	0.003610	0	0
MEIS2	4212	broad.mit.edu	37	15	37184626	37184626	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr15:37184626C>T	ENST00000338564.5	-	13	1607	c.1161G>A	c.(1159-1161)caG>caA	p.Q387Q	MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000382766.2_Silent_p.Q387Q|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000561208.1_Silent_p.Q394Q	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	394					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TAGGACCACCCTGAGAAACGT	0.458000													121	107					0	0	0.003610	0	0
SHPRH	257218	broad.mit.edu	37	6	146264414	146264414	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:146264414A>T	ENST00000367503.3	-	9	2501	c.2103T>A	c.(2101-2103)ttT>ttA	p.F701L	SHPRH_ENST00000438092.2_Missense_Mutation_p.F701L|SHPRH_ENST00000367505.2_Missense_Mutation_p.F701L|SHPRH_ENST00000275233.7_Missense_Mutation_p.F701L	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	701					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GGGGGCAGTAAAAAGGCTTGA	0.453000													15	24					0	0	0.002450	0	0
RET	5979	broad.mit.edu	37	10	43596171	43596171	+	Splice_Site	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:43596171G>T	ENST00000355710.3	+	2	569		c.e2+1		RET_ENST00000340058.5_Splice_Site	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene						homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGTGTCCGCAGTAAGGGAGCC	0.622000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				3	4					0.004672	0.00482214	0.004672	1	0
POLR2C	5432	broad.mit.edu	37	16	57503178	57503178	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr16:57503178C>T	ENST00000219252.5	+	5	698	c.360C>T	c.(358-360)ctC>ctT	p.L120L	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	120					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	p.L120L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CTCGAGACCTCATCTCCAACA	0.582000													9	95					0	0	0.004482	0	0
RXFP1	59350	broad.mit.edu	37	4	159568066	159568066	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:159568066C>G	ENST00000307765.5	+	16	1720	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	RXFP1_ENST00000470033.1_Missense_Mutation_p.S457C|RXFP1_ENST00000448688.2_Missense_Mutation_p.S385C|RXFP1_ENST00000343542.5_Missense_Mutation_p.S442C|RXFP1_ENST00000460056.2_Missense_Mutation_p.S409C	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	490						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTTGTAGGATCTTTGGCCATT	0.398000													8	28					0	0	0.003080	0	0
TMEM175	84286	broad.mit.edu	37	4	952199	952199	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:952199G>A	ENST00000264771.4	+	11	1615	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	TMEM175_ENST00000508204.1_Missense_Mutation_p.R395Q|TMEM175_ENST00000515740.1_Missense_Mutation_p.R361Q	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	477						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGGTCCTGCGGGGCCTCGCC	0.726000													13	25					0	0	0.001368	0	0
RAD18	56852	broad.mit.edu	37	3	8977576	8977576	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:8977576C>G	ENST00000264926.2	-	7	984	c.868G>C	c.(868-870)Gat>Cat	p.D290H		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	290					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGCAAAGCATCGCATTGGGCA	0.328000								Rad6 pathway					9	44					0	0	0.006214	0	0
THOP1	7064	broad.mit.edu	37	19	2790526	2790526	+	Missense_Mutation	SNP	G	G	A	rs142015327	byFrequency	TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:2790526G>A	ENST00000307741.6	+	2	327	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	42					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCTCATCGAGCAGACCAA	0.612000													11	44					0	0	0.008291	0	0
SLC5A9	200010	broad.mit.edu	37	1	48713175	48713175	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:48713175T>C	ENST00000236495.5	+	15	2131	c.2081T>C	c.(2080-2082)tTg>tCg	p.L694S	SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000438567.2_Missense_Mutation_p.L669S|SLC5A9_ENST00000533824.1_Missense_Mutation_p.L690S	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	669						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCTGTCCTTTTGCTGGCCATC	0.522000													20	30					0	0	0.002299	0	0
COL6A2	1292	broad.mit.edu	37	21	47533965	47533965	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr21:47533965C>A	ENST00000300527.4	+	5	883	c.779C>A	c.(778-780)cCc>cAc	p.P260H	COL6A2_ENST00000357838.4_Missense_Mutation_p.P260H|COL6A2_ENST00000409416.1_Missense_Mutation_p.P260H|COL6A2_ENST00000397763.1_Missense_Mutation_p.P260H|COL6A2_ENST00000310645.5_Missense_Mutation_p.P260H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	260	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCTCTGGCCCCAAGGGCTAC	0.567000													12	59					0.00316338	0.00327122	0.003163	1	0
AMY2B	280	broad.mit.edu	37	1	104116440	104116440	+	Silent	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:104116440G>T	ENST00000361355.4	+	6	1240	c.624G>T	c.(622-624)ggG>ggT	p.G208G	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	208					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTGTTGCAGGGTTCAGACTTG	0.433000													44	287					1.00776e-21	1.29772e-21	0.003610	1	0
ASIC2	40	broad.mit.edu	37	17	32483356	32483356	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:32483356A>G	ENST00000359872.6	-	1	957	c.196T>C	c.(196-198)Tac>Cac	p.Y66H		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	66					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GAGAAGTAGTAGGACACCCTC	0.592000													11	41					0	0	0.010729	0	0
HFM1	164045	broad.mit.edu	37	1	91850784	91850784	+	Silent	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:91850784T>C	ENST00000370425.3	-	6	860	c.762A>G	c.(760-762)acA>acG	p.T254T	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	254							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AACCATTTTCTGTTACCTCTG	0.264000													6	14					0	0	0.004482	0	0
ZGPAT	84619	broad.mit.edu	37	20	62366802	62366802	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr20:62366802G>T	ENST00000328969.5	+	6	1470	c.1343G>T	c.(1342-1344)aGc>aTc	p.S448I	ZGPAT_ENST00000448100.1_Missense_Mutation_p.S428I|ZGPAT_ENST00000369967.3_Missense_Mutation_p.S428I|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000357119.4_Missense_Mutation_p.S419I|ZGPAT_ENST00000355969.6_Missense_Mutation_p.S428I	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	448					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TACCATGCCAGCAAGAGTGCC	0.627000													9	15					7.48243e-07	8.40619e-07	0.006214	1	0
DISC1	27185	broad.mit.edu	37	1	231829759	231829759	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:231829759G>T	ENST00000439617.2	+	2	308	c.255G>T	c.(253-255)caG>caT	p.Q85H	DISC1_ENST00000366636.4_Missense_Mutation_p.Q85H|DISC1_ENST00000535983.1_Missense_Mutation_p.Q85H|DISC1_ENST00000317586.4_Missense_Mutation_p.Q85H|DISC1_ENST00000539444.1_Missense_Mutation_p.Q85H|DISC1_ENST00000537876.1_Missense_Mutation_p.Q85H|DISC1_ENST00000366633.3_Missense_Mutation_p.Q85H|DISC1_ENST00000602873.1_Intron|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.Q85H|DISC1_ENST00000366637.3_5'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	85	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGGCCAGACAGTGTGGCCTTG	0.627000													12	21					5.50884e-06	6.03981e-06	0.001368	1	0
HIAT1	64645	broad.mit.edu	37	1	100547675	100547675	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:100547675G>A	ENST00000370152.3	+	12	1519	c.1383G>A	c.(1381-1383)tgG>tgA	p.W461*	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	461					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CCAGCAGTTGGAGAAAGCACT	0.483000													5	37					0	0	0.000602	0	0
MAGOH	4116	broad.mit.edu	37	1	53699287	53699287	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:53699287C>G	ENST00000371470.3	-	3	346	c.185G>C	c.(184-186)aGa>aCa	p.R62T	MAGOH_ENST00000462941.1_5'UTR|MAGOH_ENST00000371466.4_Intron	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	62					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						GTCAATTATTCTCTTCAGTTC	0.418000													19	146					0	0	0.007413	0	0
FGA	2243	broad.mit.edu	37	4	155507040	155507040	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:155507040G>T	ENST00000302053.3	-	5	1619	c.1541C>A	c.(1540-1542)cCt>cAt	p.P514H	FGA_ENST00000403106.3_Missense_Mutation_p.P514H	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	514					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCTTCATCAGGGTGCCTATG	0.502000													22	61					2.21704e-12	2.6781e-12	0.002780	1	0
PROX2	283571	broad.mit.edu	37	14	75329988	75329988	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:75329988G>A	ENST00000556084.2	-	1	549	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	PROX2_ENST00000556489.2_Missense_Mutation_p.R184C|PROX2_ENST00000445876.1_Missense_Mutation_p.R184C	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	184					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		ACCCAGGGGCGAGGCCCACAG	0.617000													9	32					0	0	0.008291	0	0
COL22A1	169044	broad.mit.edu	37	8	139774680	139774680	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr8:139774680C>T	ENST00000303045.6	-	17	2279	c.1833G>A	c.(1831-1833)ggG>ggA	p.G611G	COL22A1_ENST00000435777.1_Silent_p.G611G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	611	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCCAGGCTTCCCAGGGAATC	0.567000										HNSCC(7;0.00092)			17	18					0	0	0.008871	0	0
IMPG2	50939	broad.mit.edu	37	3	100951668	100951668	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:100951668C>G	ENST00000193391.7	-	15	3377	c.3190G>C	c.(3190-3192)Gat>Cat	p.D1064H		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1064	EGF-like 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CACTTTCCATCATTCAAGCAG	0.458000													16	35					0	0	0.004007	0	0
C14orf28	122525	broad.mit.edu	37	14	45369754	45369754	+	Missense_Mutation	SNP	G	G	T	rs146051011	byFrequency	TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:45369754G>T	ENST00000325192.3	+	2	391	c.116G>T	c.(115-117)cGc>cTc	p.R39L	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.R39L	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	39										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						AAAGCTGGCCGCAAAGCAGTA	0.363000													16	20					2.31682e-05	2.49997e-05	0.003163	1	0
NEMF	9147	broad.mit.edu	37	14	50266231	50266231	+	Silent	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:50266231T>C	ENST00000298310.5	-	25	2876	c.2427A>G	c.(2425-2427)aaA>aaG	p.K809K	NEMF_ENST00000545773.1_Silent_p.K767K|NEMF_ENST00000546046.1_Silent_p.K788K|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	809						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GGCTCTGTGATTTACTGTCAC	0.299000													35	39					0	0	0.004878	0	0
NRP1	8829	broad.mit.edu	37	10	33481304	33481304	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:33481304G>C	ENST00000265371.4	-	14	2492	c.1967C>G	c.(1966-1968)tCt>tGt	p.S656C	NRP1_ENST00000395995.1_Missense_Mutation_p.S656C|NRP1_ENST00000374867.2_Missense_Mutation_p.S656C			O14786	NRP1_HUMAN	neuropilin 1	656	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGTCTTGTGAGAGCCCCAGCC	0.453000													107	191					0	0	0.003610	0	0
CD163	9332	broad.mit.edu	37	12	7632510	7632510	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr12:7632510C>A	ENST00000359156.4	-	16	3628	c.3426G>T	c.(3424-3426)aaG>aaT	p.K1142N	CD163_ENST00000396620.3_Splice_Site|CD163_ENST00000541972.1_Splice_Site|CD163_ENST00000432237.2_Splice_Site	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1142					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GAATGGCCTCCTTTTCCATTC	0.373000													14	38					3.27435e-08	3.73235e-08	0.002450	1	0
KLHDC2	23588	broad.mit.edu	37	14	50245145	50245145	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:50245145G>T	ENST00000298307.5	+	6	1427	c.566G>T	c.(565-567)aGa>aTa	p.R189I	KLHDC2_ENST00000557247.1_Missense_Mutation_p.R189I|KLHDC2_ENST00000554589.1_Missense_Mutation_p.R189I	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	189						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					AGTCATCCAAGAGGATGGAAT	0.323000													14	18					6.94344e-10	8.18816e-10	0.006122	1	0
TEKT5	146279	broad.mit.edu	37	16	10769983	10769983	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr16:10769983G>C	ENST00000283025.2	-	5	990	c.919C>G	c.(919-921)Cag>Gag	p.Q307E		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	307					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CGCATGTTCTGAGAGTGTTTG	0.552000													11	46					0	0	0.001855	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343813	38343813	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:38343813G>A	ENST00000374618.3	+	5	939	c.761G>A	c.(760-762)aGa>aAa	p.R254K	ZNF33A_ENST00000458705.2_Missense_Mutation_p.R253K|ZNF33A_ENST00000432900.2_Missense_Mutation_p.R260K|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.R253K	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	253						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GAATTTGGGAGAACTTTGTGT	0.378000													11	26					0	0	0.010729	0	0
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:7578457C>A	ENST00000420246.2	-	5	605	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000269305.4_Missense_Mutation_p.R158L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCATGGCGCGGACGCGGGT	0.627000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	29					2.89027e-11	3.4381e-11	0.002299	1	0
SHPRH	257218	broad.mit.edu	37	6	146268732	146268732	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:146268732A>C	ENST00000367503.3	-	6	1507	c.1109T>G	c.(1108-1110)aTt>aGt	p.I370S	SHPRH_ENST00000438092.2_Missense_Mutation_p.I370S|SHPRH_ENST00000367505.2_Missense_Mutation_p.I370S|SHPRH_ENST00000275233.7_Missense_Mutation_p.I370S	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	370	Helicase ATP-binding; first part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATCTGCTAAAATTCCACCAAG	0.423000													13	62					0	0	0.001368	0	0
WDR72	256764	broad.mit.edu	37	15	53992079	53992079	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr15:53992079C>T	ENST00000396328.1	-	13	1872	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	WDR72_ENST00000360509.5_Missense_Mutation_p.E545K|WDR72_ENST00000559418.1_Missense_Mutation_p.E555K|WDR72_ENST00000557913.1_Missense_Mutation_p.E542K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	545										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTCTTTCCCTCAAGGTGAAGG	0.453000													77	64					0	0	0.003610	0	0
HUS1B	135458	broad.mit.edu	37	6	656914	656914	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:656914C>T	ENST00000380907.2	-	1	49	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	11										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TCTAGACAGCCTTTGCCGGTG	0.652000													14	39					0	0	0.003163	0	0
SLC4A7	9497	broad.mit.edu	37	3	27473044	27473044	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:27473044T>C	ENST00000295736.5	-	7	938	c.868A>G	c.(868-870)Aga>Gga	p.R290G	SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000425128.2_Missense_Mutation_p.R282G|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R286G|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R286G|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R282G|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R299G|SLC4A7_ENST00000428386.1_Intron	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	290						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GTTCCAGCTCTTGAAGAAGGA	0.527000													14	45					0	0	0.003163	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55063138	55063138	+	RNA	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:55063138A>T	ENST00000526016.1	-	0	499					NR_038174.2																						TTCAGCTCTGATTGCTTCTAT	0.383000													3	6					0	0	0.004672	0	0
HOMER2	9455	broad.mit.edu	37	15	83561536	83561536	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr15:83561536C>T	ENST00000304231.8	-	2	255	c.63G>A	c.(61-63)aaG>aaA	p.K21K	HOMER2_ENST00000426485.1_Silent_p.K21K|HOMER2_ENST00000450735.2_Silent_p.K21K|HOMER2_ENST00000399166.2_Silent_p.K21K	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	21	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						TCCAGTTCTTCTTGGTGTTGG	0.522000													18	113					0	0	0.004990	0	0
SORCS1	114815	broad.mit.edu	37	10	108459107	108459107	+	Silent	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:108459107C>G	ENST00000263054.6	-	9	1285	c.1278G>C	c.(1276-1278)gcG>gcC	p.A426A	SORCS1_ENST00000369698.1_5'UTR|SORCS1_ENST00000344440.6_Silent_p.A426A	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	426						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATTCTTGGACCGCTGCGAACA	0.478000													25	15					0	0	0.008361	0	0
BIRC6	57448	broad.mit.edu	37	2	32774406	32774406	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:32774406C>T	ENST00000421745.2	+	65	13136	c.13002C>T	c.(13000-13002)gtC>gtT	p.V4334V		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4334					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TAAATCCCGTCAGTAGTGCGG	0.383000													6	86					0	0	0.001168	0	0
GAB2	9846	broad.mit.edu	37	11	77991716	77991716	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:77991716C>T	ENST00000361507.4	-	2	392	c.307G>A	c.(307-309)Gag>Aag	p.E103K	GAB2_ENST00000526030.1_5'UTR|GAB2_ENST00000340149.2_Missense_Mutation_p.E65K	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	103	PH.				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTCATGTCCTCTTCTGTCTCA	0.483000													34	258					0	0	0.003755	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37728853	37728853	+	Missense_Mutation	SNP	G	G	A	rs75558150	byFrequency	TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr8:37728853G>A	ENST00000330843.4	-	4	3479	c.3467C>T	c.(3466-3468)tCg>tTg	p.S1156L	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1156					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ATGTGTCTCCGAGGGTGAGAC	0.532000											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	52					0	0	0.001368	0	0
RAD9B	144715	broad.mit.edu	37	12	110944491	110944491	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr12:110944491C>T	ENST00000409246.1	+	4	490	c.165C>T	c.(163-165)taC>taT	p.Y55Y	RAD9B_ENST00000433301.1_3'UTR|RAD9B_ENST00000409425.1_Silent_p.Y55Y|RAD9B_ENST00000392672.4_Silent_p.Y127Y|RAD9B_ENST00000409778.3_Silent_p.Y127Y|RAD9B_ENST00000409300.1_Silent_p.Y127Y			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	124					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						AATTCTTCTACAGACATGGTA	0.299000													15	64					0	0	0.002450	0	0
PVRL3	25945	broad.mit.edu	37	3	110831156	110831156	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:110831156T>A	ENST00000485303.1	+	2	715	c.440T>A	c.(439-441)aTc>aAc	p.I147N	PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000493615.1_Missense_Mutation_p.I124N|PVRL3_ENST00000319792.3_Missense_Mutation_p.I147N	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	147	Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GGAAAATACATCTGCAAAGCT	0.373000													16	24					0	0	0.007413	0	0
FAM179B	23116	broad.mit.edu	37	14	45465012	45465012	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:45465012G>A	ENST00000361462.2	+	2	2293	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N	FAM179B_ENST00000361577.3_Missense_Mutation_p.D704N|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.D704N			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	704							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCCAGTCAATGATGATTTATG	0.318000													11	14					0	0	0.001855	0	0
CAPN6	827	broad.mit.edu	37	X	110497507	110497507	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:110497507C>A	ENST00000324068.1	-	3	457	c.290G>T	c.(289-291)tGg>tTg	p.W97L	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	97	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TACCTTTGTCCAATGAGACTC	0.438000													34	19					1.36161e-19	1.74108e-19	0.004289	1	0
GPRIN3	285513	broad.mit.edu	37	4	90170789	90170789	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:90170789G>A	ENST00000333209.3	-	2	991	c.473C>T	c.(472-474)tCa>tTa	p.S158L		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	158										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGTTCTCTGTGATCTCATCAG	0.517000													23	106					0	0	0.002780	0	0
DSP	1832	broad.mit.edu	37	6	7580467	7580467	+	Silent	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:7580467G>C	ENST00000379802.3	+	23	4385	c.4044G>C	c.(4042-4044)ctG>ctC	p.L1348L	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1348	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAATGAACTGAGTAAGGTAA	0.443000													6	39					0	0	0.001168	0	0
ZNF713	349075	broad.mit.edu	37	7	56006821	56006821	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:56006821C>A	ENST00000429591.2	+	4	453	c.415C>A	c.(415-417)Cat>Aat	p.H139N	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTTGATTACCATCCAGAGTT	0.398000													18	27					1.33834e-09	1.56809e-09	0.007413	1	0
CHPF	79586	broad.mit.edu	37	2	220404716	220404716	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:220404716G>A	ENST00000243776.6	-	4	1965	c.1717C>T	c.(1717-1719)Ctg>Ttg	p.L573L	CHPF_ENST00000535926.1_Silent_p.L411L	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	573						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CGCCGCTCCAGCTCTGCCACG	0.662000													42	25					0	0	0.003610	0	0
UBA52	7311	broad.mit.edu	37	19	18684139	18684139	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:18684139G>A	ENST00000442744.2	+	2	87	c.29G>A	c.(28-30)gGc>gAc	p.G10D	CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000599551.1_Missense_Mutation_p.G10D|UBA52_ENST00000599595.1_Missense_Mutation_p.G10D|UBA52_ENST00000597451.1_Missense_Mutation_p.G10D|UBA52_ENST00000596304.1_Missense_Mutation_p.G10D|UBA52_ENST00000596273.1_Missense_Mutation_p.G10D|UBA52_ENST00000598780.1_Missense_Mutation_p.G10D|UBA52_ENST00000430157.2_Missense_Mutation_p.G10D|UBA52_ENST00000595158.1_Missense_Mutation_p.G10D|UBA52_ENST00000595683.1_Missense_Mutation_p.G10D	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	10	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						ACCCTCACTGGCAAAACCATC	0.532000													3	31					0	0	0.004672	0	0
DSC1	1823	broad.mit.edu	37	18	28710636	28710636	+	Silent	SNP	A	A	G	rs139389841		TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr18:28710636A>G	ENST00000257198.5	-	16	2787	c.2526T>C	c.(2524-2526)caT>caC	p.H842H	DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	842					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGTCTTCACAATGTTTATGCT	0.398000													26	29					0	0	0.006320	0	0
MED24	9862	broad.mit.edu	37	17	38186033	38186033	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:38186033G>A	ENST00000394126.1	-	12	1727	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	MED24_ENST00000356271.3_Missense_Mutation_p.R399W|MED24_ENST00000394128.2_Missense_Mutation_p.R412W|MED24_ENST00000501516.3_Missense_Mutation_p.R431W|MED24_ENST00000394127.2_Missense_Mutation_p.R399W			O75448	MED24_HUMAN	mediator complex subunit 24	412					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGCTCCGCCCGGAGGATCAGC	0.572000													25	42					0	0	0.008361	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163228	32163228	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:32163228C>T	ENST00000375023.3	-	30	6136	c.5998G>A	c.(5998-6000)Gag>Aag	p.E2000K	GPSM3_ENST00000375043.3_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	2000					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TTTTTACCCTCTCCTCCTTGG	0.507000													11	54					0	0	0.008291	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530072	5530072	+	Silent	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:5530072C>A	ENST00000311659.4	-	2	864	c.717G>T	c.(715-717)cgG>cgT	p.R239R	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	239										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACTGAGCACCCGGTCCTGGC	0.478000													18	86					1.67942e-08	1.94684e-08	0.006122	1	0
CUL1	8454	broad.mit.edu	37	7	148427226	148427226	+	Silent	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:148427226C>G	ENST00000325222.4	+	2	291	c.12C>G	c.(10-12)acC>acG	p.T4T	CUL1_ENST00000602748.1_Silent_p.T4T|CUL1_ENST00000409469.1_Silent_p.T4T	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	4					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGTCGTCAACCCGGAGCCAGA	0.517000													12	58					0	0	0.010729	0	0
EPHA3	2042	broad.mit.edu	37	3	89468424	89468424	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:89468424A>G	ENST00000336596.2	+	11	2183	c.1958A>G	c.(1957-1959)aAg>aGg	p.K653R	EPHA3_ENST00000494014.1_Missense_Mutation_p.K653R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	653	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTGGCCATTAAGACCCTGAAA	0.428000										TSP Lung(6;0.00050)			7	30					0	0	0.001984	0	0
GCM1	8521	broad.mit.edu	37	6	52993489	52993489	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:52993489T>C	ENST00000259803.7	-	6	1037	c.826A>G	c.(826-828)Agt>Ggt	p.S276G		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	276						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AGGTCTCCACTACTGTAGGTT	0.498000													11	38					0	0	0.001855	0	0
SH2B1	25970	broad.mit.edu	37	16	28878713	28878713	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr16:28878713C>A	ENST00000337120.5	+	2	4292	c.1001C>A	c.(1000-1002)gCc>gAc	p.A334D	SH2B1_ENST00000395532.4_Missense_Mutation_p.A334D|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.A334D|SH2B1_ENST00000545570.1_Missense_Mutation_p.A24D|SH2B1_ENST00000538342.1_5'UTR|SH2B1_ENST00000322610.8_Missense_Mutation_p.A334D	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	334	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ACAACCACAGCCCTGGAGATG	0.552000													116	146					1.19196e-58	1.6311e-58	0.003610	1	0
MEIS2	4212	broad.mit.edu	37	15	37376025	37376025	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr15:37376025C>A	ENST00000338564.5	-	8	1147	c.701G>T	c.(700-702)gGg>gTg	p.G234V	MEIS2_ENST00000397624.3_Missense_Mutation_p.G146V|MEIS2_ENST00000397620.2_Missense_Mutation_p.G146V|MEIS2_ENST00000559085.1_Missense_Mutation_p.G221V|MEIS2_ENST00000340545.5_Missense_Mutation_p.G221V|MEIS2_ENST00000219869.9_Missense_Mutation_p.G88V|MEIS2_ENST00000444725.1_Missense_Mutation_p.G234V|MEIS2_ENST00000382766.2_Missense_Mutation_p.G234V|MEIS2_ENST00000424352.2_Missense_Mutation_p.G234V|MEIS2_ENST00000557796.2_Missense_Mutation_p.G221V|MEIS2_ENST00000559561.1_Missense_Mutation_p.G234V|MEIS2_ENST00000561208.1_Missense_Mutation_p.G234V	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	234	Ser/Thr-rich.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		ACTGGAGGGCCCTGGGGTGCC	0.512000													36	46					1.15505e-17	1.45985e-17	0.009718	1	0
USP35	57558	broad.mit.edu	37	11	77919914	77919914	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:77919914T>G	ENST00000529308.1	+	9	1758	c.1497T>G	c.(1495-1497)atT>atG	p.I499M	USP35_ENST00000530267.1_Missense_Mutation_p.I67M|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.I230M|USP35_ENST00000441408.2_Missense_Mutation_p.I85M	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	499					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGCCTGCCATTTCCCCAGAGA	0.607000													172	131					0	0	0.003610	0	0
TACC2	10579	broad.mit.edu	37	10	123810054	123810054	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:123810054A>T	ENST00000369005.1	+	3	475	c.135A>T	c.(133-135)agA>agT	p.R45S	TACC2_ENST00000358010.1_Missense_Mutation_p.R45S|TACC2_ENST00000515273.1_Missense_Mutation_p.R45S|TACC2_ENST00000334433.3_Missense_Mutation_p.R45S|TACC2_ENST00000513429.1_Missense_Mutation_p.R45S|TACC2_ENST00000515603.1_Missense_Mutation_p.R45S|TACC2_ENST00000453444.2_Missense_Mutation_p.R45S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	45						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGACCACAGAGACGCGTCCA	0.582000													19	19					0	0	0.007413	0	0
ZNF234	10780	broad.mit.edu	37	19	44661636	44661636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:44661636C>A	ENST00000426739.2	+	6	1725	c.1467C>A	c.(1465-1467)tgC>tgA	p.C489*	ZNF234_ENST00000592437.1_Nonsense_Mutation_p.C489*	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GTGAAGAGTGCGGAAAGGGAT	0.453000													62	29					1.4709e-25	1.92593e-25	0.003610	1	0
SYCP1	6847	broad.mit.edu	37	1	115428757	115428757	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:115428757G>T	ENST00000369522.3	+	14	1257	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	SYCP1_ENST00000369518.1_Missense_Mutation_p.K339N	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	339					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCAAAAGGCTTTAGAGG	0.338000													5	29					3.59834e-05	3.8675e-05	0.001168	1	0
IGKV6D-21	28870	broad.mit.edu	37	2	90060893	90060893	+	RNA	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:90060893G>T	ENST00000436451.2	+	0	307																											TCCCCTCGAGGTTCAGTGGCA	0.498000													53	58					4.45325e-31	5.9595e-31	0.003610	1	0
REM1	28954	broad.mit.edu	37	20	30065683	30065683	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr20:30065683G>A	ENST00000201979.2	+	3	686	c.393G>A	c.(391-393)gtG>gtA	p.V131V		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	131					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCACACTGGTGGTCGTGGACA	0.567000													11	13					0	0	0.002450	0	0
CNTN5	53942	broad.mit.edu	37	11	100179184	100179184	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:100179184G>A	ENST00000524871.1	+	21	3004	c.2714G>A	c.(2713-2715)aGa>aAa	p.R905K	CNTN5_ENST00000279463.3_Missense_Mutation_p.R905K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.R905K|CNTN5_ENST00000418526.2_Missense_Mutation_p.R831K|CNTN5_ENST00000528682.1_Missense_Mutation_p.R905K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	905	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTCTAGGAAGACCACAGGGA	0.428000													4	29					0	0	0.009096	0	0
COL14A1	7373	broad.mit.edu	37	8	121354682	121354682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr8:121354682C>T	ENST00000297848.3	+	44	5155	c.4885C>T	c.(4885-4887)Cag>Tag	p.Q1629*	COL14A1_ENST00000247781.3_Nonsense_Mutation_p.Q1534*|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.Q1629*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1629					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACAGCTCATCCAGAGTAAGTA	0.458000													7	47					0	0	0.001984	0	0
OR6V1	346517	broad.mit.edu	37	7	142750304	142750304	+	Silent	SNP	C	C	A	rs4725609		TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:142750304C>A	ENST00000418316.1	+	1	888	c.867C>A	c.(865-867)acC>acA	p.T289T		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTATCCTTACCTTCTGCAATC	0.527000													11	31					3.86212e-05	4.13474e-05	0.008291	1	0
C14orf159	80017	broad.mit.edu	37	14	91633606	91633606	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:91633606C>T	ENST00000518868.1	+	7	831	c.141C>T	c.(139-141)tcC>tcT	p.S47S	C14orf159_ENST00000522322.1_Silent_p.S47S|C14orf159_ENST00000298858.4_Silent_p.S47S|C14orf159_ENST00000256324.10_Silent_p.S47S|C14orf159_ENST00000521077.2_Silent_p.S47S|C14orf159_ENST00000520328.1_Silent_p.S47S|C14orf159_ENST00000523816.1_Silent_p.S47S|C14orf159_ENST00000519019.1_Silent_p.S47S|C14orf159_ENST00000518665.2_Silent_p.S47S|C14orf159_ENST00000428926.2_Silent_p.S47S|C14orf159_ENST00000412671.2_Silent_p.S47S|C14orf159_ENST00000525393.2_Intron|C14orf159_ENST00000517877.1_Silent_p.S47S|C14orf159_ENST00000523771.1_Silent_p.S47S			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	47						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGCCCAGGTCCCTTGCTCCAG	0.557000													65	46					0	0	0.003610	0	0
ART1	417	broad.mit.edu	37	11	3681076	3681076	+	Silent	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:3681076C>G	ENST00000250693.1	+	3	428	c.327C>G	c.(325-327)ggC>ggG	p.G109G		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	109					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CACCCCTGGGCTTCCGCGATG	0.682000													22	15					0	0	0.002299	0	0
SYNPO2	171024	broad.mit.edu	37	4	119944633	119944633	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:119944633G>A	ENST00000307142.4	+	2	350	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	SYNPO2_ENST00000429713.2_Missense_Mutation_p.E52K|SYNPO2_ENST00000448416.2_Missense_Mutation_p.E52K|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E52K	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	52	PDZ.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGAGGGAGATGAAGTGGTTTC	0.423000													9	21					0	0	0.004482	0	0
OR10G4	390264	broad.mit.edu	37	11	123886650	123886650	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:123886650G>T	ENST00000320891.4	+	1	369	c.369G>T	c.(367-369)ttG>ttT	p.L123F		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ATCGCTACTTGGCCATCAGTT	0.562000													35	151					1.32136e-16	1.65853e-16	0.008740	1	0
JAKMIP2	9832	broad.mit.edu	37	5	146997527	146997527	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:146997527A>T	ENST00000265272.5	-	19	2760	c.2293T>A	c.(2293-2295)Tat>Aat	p.Y765N	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Y744N|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Y723N	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	765						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGTCATACTCTCTGCTC	0.463000													14	39					0	0	0.001855	0	0
RTTN	25914	broad.mit.edu	37	18	67688031	67688031	+	Silent	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr18:67688031T>A	ENST00000255674.6	-	45	6259	c.5973A>T	c.(5971-5973)tcA>tcT	p.S1991S	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1991							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GTCCACAACTTGACCAACAAA	0.438000													20	40					0	0	0.008871	0	0
SLC26A10	65012	broad.mit.edu	37	12	58015561	58015561	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr12:58015561T>A	ENST00000379218.2	+	4	955	c.644T>A	c.(643-645)gTc>gAc	p.V215D	SLC26A10_ENST00000320442.4_Missense_Mutation_p.V215D			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	215						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTCGTGCCGGTCAAGGAATTG	0.692000											OREG0021948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	17					0	0	0.006214	0	0
FCRL2	79368	broad.mit.edu	37	1	157740380	157740380	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:157740380G>T	ENST00000361516.3	-	3	177	c.129C>A	c.(127-129)aaC>aaA	p.N43K	FCRL2_ENST00000368181.4_Missense_Mutation_p.N43K|FCRL2_ENST00000392274.3_Missense_Mutation_p.N43K	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	43	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.N43N(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GAATTTTCCAGTTCTGTTCTC	0.433000													21	33					1.15919e-05	1.26079e-05	0.008871	1	0
NEK10	152110	broad.mit.edu	37	3	27243984	27243984	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:27243984G>A	ENST00000429845.2	-	25	2517	c.2155C>T	c.(2155-2157)Ctt>Ttt	p.L719F	NEK10_ENST00000383770.3_Missense_Mutation_p.L31F|NEK10_ENST00000383771.4_Missense_Mutation_p.L31F|NEK10_ENST00000295720.6_Missense_Mutation_p.L31F|NEK10_ENST00000357467.2_Missense_Mutation_p.L116F			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	719							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATCTGATAAAGGATGCAGCCT	0.493000													6	36					0	0	0.001984	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70524989	70524989	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:70524989G>A	ENST00000538820.1	+	10	1277	c.937G>A	c.(937-939)Gat>Aat	p.D313N	ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.D331N			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	331					muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CGATTCAGATGATGATCTGAG	0.507000													3	7					0	0	0.009096	0	0
FBN2	2201	broad.mit.edu	37	5	127714528	127714528	+	Silent	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:127714528A>G	ENST00000508053.1	-	18	2633	c.1659T>C	c.(1657-1659)ccT>ccC	p.P553P	FBN2_ENST00000262464.4_Silent_p.P553P|FBN2_ENST00000508989.1_Silent_p.P520P			P35556	FBN2_HUMAN	fibrillin 2	553	EGF-like 7; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AATAGGAACCAGGTGTGTTAA	0.398000													32	28					0	0	0.010818	0	0
BRINP2	57795	broad.mit.edu	37	1	177249638	177249638	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:177249638C>A	ENST00000361539.4	+	8	1638	c.1326C>A	c.(1324-1326)agC>agA	p.S442R	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		442						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AGAGCCACAGCTGCACCTGCC	0.602000													20	50					9.7654e-05	0.000103532	0.007413	1	0
MDN1	23195	broad.mit.edu	37	6	90421912	90421912	+	Silent	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:90421912C>G	ENST00000369393.3	-	49	7609	c.7494G>C	c.(7492-7494)ctG>ctC	p.L2498L	MDN1_ENST00000428876.1_Silent_p.L2498L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2498					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)		CATTGAATTTCAGGTTCTCAG	0.398000													50	74					0	0	0.003610	0	0
TTC17	55761	broad.mit.edu	37	11	43411234	43411234	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:43411234A>C	ENST00000039989.4	+	3	296	c.282A>C	c.(280-282)gaA>gaC	p.E94D	TTC17_ENST00000299240.6_Missense_Mutation_p.E94D	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	94							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTCACATAGAAGAGAATGAGG	0.383000													14	48					0	0	0.003163	0	0
PRR19	284338	broad.mit.edu	37	19	42814213	42814213	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:42814213G>A	ENST00000499536.2	+	1	1288	c.477G>A	c.(475-477)caG>caA	p.Q159Q	PRR19_ENST00000598490.1_Silent_p.Q159Q|PRR19_ENST00000341747.3_Silent_p.Q159Q			A6NJB7	PRR19_HUMAN	proline rich 19	159										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GTTTGCCACAGGCCTTCCCCC	0.632000													55	24					0	0	0.003610	0	0
USE1	55850	broad.mit.edu	37	19	17330079	17330079	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:17330079C>T	ENST00000445667.2	+	7	540	c.480C>T	c.(478-480)ctC>ctT	p.L160L	USE1_ENST00000596136.1_Intron|USE1_ENST00000379776.4_Intron|USE1_ENST00000263897.5_Silent_p.L160L			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	160					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						AGCTAGACCTCGTCCTGCAGC	0.592000													5	30					0	0	0.000602	0	0
PDPR	55066	broad.mit.edu	37	16	70190514	70190514	+	Missense_Mutation	SNP	G	G	T	rs117263218	by1000genomes	TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr16:70190514G>T	ENST00000288050.4	+	19	3329	c.2372G>T	c.(2371-2373)cGg>cTg	p.R791L	PDPR_ENST00000567046.1_Missense_Mutation_p.R149L|PDPR_ENST00000542659.1_Missense_Mutation_p.R136L|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000568530.1_Missense_Mutation_p.R791L|PDPR_ENST00000398122.3_Missense_Mutation_p.R691L|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	791					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CCCATTTACCGGAATGGGCAG	0.532000													47	151					7.77372e-23	1.01058e-22	0.003610	1	0
FAT3	120114	broad.mit.edu	37	11	92087809	92087809	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:92087809C>T	ENST00000298047.6	+	1	2548	c.2531C>T	c.(2530-2532)tCa>tTa	p.S844L	FAT3_ENST00000541502.1_Missense_Mutation_p.S844L|FAT3_ENST00000525166.1_Missense_Mutation_p.S694L|FAT3_ENST00000409404.2_Missense_Mutation_p.S844L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	844	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTGAAAGTTCAGGCATTGGT	0.398000										TCGA Ovarian(4;0.039)			21	43					0	0	0.010504	0	0
AKR1B1	231	broad.mit.edu	37	7	134143774	134143774	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:134143774G>C	ENST00000285930.4	-	1	120	c.41C>G	c.(40-42)cCc>cGc	p.P14R	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	14					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CCCCAGGATGGGCATCTTGGC	0.716000											OREG0018334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	12					0	0	0.009096	0	0
L1CAM	3897	broad.mit.edu	37	X	153130418	153130418	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:153130418G>A	ENST00000370060.1	-	23	3093	c.2904C>T	c.(2902-2904)ttC>ttT	p.F968F	L1CAM_ENST00000543994.1_Silent_p.F970F|L1CAM_ENST00000538883.1_Silent_p.F970F|L1CAM_ENST00000361981.3_Silent_p.F963F|L1CAM_ENST00000370055.1_Silent_p.F963F|L1CAM_ENST00000370057.3_Silent_p.F968F|L1CAM_ENST00000361699.4_Silent_p.F968F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	968	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGAAGGTTGAAGGACAGTT	0.657000													36	73					0	0	0.004289	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555914	155555914	+	Silent	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:155555914C>A	ENST00000295101.2	+	1	1104	c.627C>A	c.(625-627)ctC>ctA	p.L209L	KCNJ3_ENST00000544049.1_Silent_p.L209L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	209					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ACGGAAAACTCACGCTTATGT	0.592000													13	19					3.27435e-08	3.73235e-08	0.002450	1	0
CCDC129	223075	broad.mit.edu	37	7	31683324	31683324	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:31683324C>T	ENST00000319386.3	+	11	2889	c.1896C>T	c.(1894-1896)acC>acT	p.T632T	CCDC129_ENST00000409210.1_Silent_p.T688T|CCDC129_ENST00000451887.2_Silent_p.T806T|CCDC129_ENST00000407970.3_Silent_p.T780T			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	780										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGCCCCTCACCAAATCCGTCT	0.512000													25	71					0	0	0.006320	0	0
PEG3	5178	broad.mit.edu	37	19	57328382	57328382	+	Silent	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:57328382T>C	ENST00000326441.9	-	10	1791	c.1428A>G	c.(1426-1428)agA>agG	p.R476R	PEG3_ENST00000423103.2_Silent_p.R476R|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.R350R|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.R352R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	476					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGAGGTTCTCTCTAGTATGCA	0.438000													118	54					0	0	0.003610	0	0
BBS5	129880	broad.mit.edu	37	2	170356080	170356080	+	Missense_Mutation	SNP	G	G	C	rs142007921		TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:170356080G>C	ENST00000295240.3	+	9	1142	c.766G>C	c.(766-768)Gtc>Ctc	p.V256L	BBS5_ENST00000554017.1_Missense_Mutation_p.V256L|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.V256L|BBS5_ENST00000392663.2_Missense_Mutation_p.V235L	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5											endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ACTTCACAAAGTCTATTCTGC	0.333000									Bardet-Biedl syndrome				27	65					0	0	0.006320	0	0
FAM41C	284593	broad.mit.edu	37	1	809715	809715	+	RNA	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:809715G>A	ENST00000446136.1	-	0	978					NR_027055.1																						GTATGCTGAGGAGGAGGTGGC	0.483000													20	118					0	0	0.008871	0	0
HDAC9	9734	broad.mit.edu	37	7	18767237	18767237	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:18767237C>G	ENST00000406451.3	+	13	1907	c.1757C>G	c.(1756-1758)tCt>tGt	p.S586C	HDAC9_ENST00000401921.1_Missense_Mutation_p.S545C|HDAC9_ENST00000432645.2_Missense_Mutation_p.S586C|HDAC9_ENST00000441542.2_Missense_Mutation_p.S589C	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	586					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.S589F(2)		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)	CGTGCGCTCTCTGTGCGCCAA	0.542000													8	10					0	0	0.006214	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881270	228881270	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:228881270C>T	ENST00000392056.3	-	7	4346	c.4300G>A	c.(4300-4302)Gat>Aat	p.D1434N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1434N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1434						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCTCTGATCTGTTTCAATC	0.468000													38	29					0	0	0.003755	0	0
ZAN	7455	broad.mit.edu	37	7	100346018	100346018	+	RNA	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:100346018G>A	ENST00000542585.1	+	0	1322				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTCCGGGGATGGTGGACACTG	0.552000													7	29					0	0	0.003080	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506568	27506568	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr16:27506568T>C	ENST00000356183.4	-	15	2611	c.2596A>G	c.(2596-2598)Acc>Gcc	p.T866A	GTF3C1_ENST00000561623.1_Missense_Mutation_p.T866A	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	866						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCTCCCAGGTGACACCATCT	0.642000													35	48					0	0	0.003271	0	0
APCS	325	broad.mit.edu	37	1	159558225	159558225	+	Missense_Mutation	SNP	G	G	T	rs151221908		TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:159558225G>T	ENST00000255040.2	+	2	496	c.399G>T	c.(397-399)ttG>ttT	p.L133F		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	133	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.L133L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GGACACCTTTGGTGAAAAAGG	0.498000													13	40					7.93312e-07	8.87599e-07	0.002450	1	0
DGKD	8527	broad.mit.edu	37	2	234343033	234343033	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:234343033C>T	ENST00000264057.2	+	4	368	c.356C>T	c.(355-357)aCt>aTt	p.T119I	DGKD_ENST00000409813.3_Missense_Mutation_p.T75I	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	119	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TAGGTCATAACTCCATGCAGG	0.418000													7	131					0	0	0.003080	0	0
TTC14	151613	broad.mit.edu	37	3	180328193	180328193	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:180328193G>C	ENST00000296015.4	+	12	2308	c.2176G>C	c.(2176-2178)Gtt>Ctt	p.V726L	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	726							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CAAAACAGAGGTTCCAGAAGA	0.343000													12	65					0	0	0.001368	0	0
CYP2C18	1562	broad.mit.edu	37	10	96484212	96484212	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:96484212A>C	ENST00000285979.6	+	7	1270	c.1071A>C	c.(1069-1071)agA>agC	p.R357S	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.R298S	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		AGATCCAGAGATACATTGACC	0.498000													92	67					0	0	0.003610	0	0
CELSR3	1951	broad.mit.edu	37	3	48678894	48678894	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:48678894C>T	ENST00000544264.1	-	34	9183	c.8903G>A	c.(8902-8904)tGt>tAt	p.C2968Y	CELSR3_ENST00000164024.4_Missense_Mutation_p.C2963Y			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2963					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGCAGAGCACAGGGGGCTGC	0.622000													11	56					0	0	0.001855	0	0
ALX4	60529	broad.mit.edu	37	11	44286517	44286517	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:44286517G>T	ENST00000329255.3	-	4	1226	c.1123C>A	c.(1123-1125)Cca>Aca	p.P375T		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	375					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TTGAGGCCTGGGCTGAGGCTG	0.657000													14	49					3.27435e-08	3.73235e-08	0.002450	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37421180	37421180	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:37421180C>A	ENST00000374660.1	+	4	454	c.355C>A	c.(355-357)Cca>Aca	p.P119T	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P119T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P119T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	175						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAGCCTCACACCACTTTTACT	0.289000													12	28					2.31682e-05	2.49997e-05	0.003163	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156638369	156638369	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:156638369C>A	ENST00000296518.7	+	8	1840	c.1631C>A	c.(1630-1632)aCt>aAt	p.T544N	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.T544N|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.T544N|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.T544N|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.T544N|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.T544N|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.T286N			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	544	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAGAGTGATACTCATGCTGTT	0.433000													12	33					6.40141e-05	6.8132e-05	0.010729	1	0
HCN1	348980	broad.mit.edu	37	5	45396642	45396642	+	Silent	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:45396642G>C	ENST00000303230.4	-	4	1239	c.1182C>G	c.(1180-1182)acC>acG	p.T394T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	394						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGATTAAAGCGGTGGCATGGC	0.498000													11	32					0	0	0.001368	0	0
GSKIP	51527	broad.mit.edu	37	14	96848614	96848614	+	Silent	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:96848614A>T	ENST00000556095.1	+	3	1842	c.30A>T	c.(28-30)ctA>ctT	p.L10L	GSKIP_ENST00000438650.1_Silent_p.L10L|GSKIP_ENST00000555181.1_Silent_p.L10L|GSKIP_ENST00000554182.1_Silent_p.L10L	NM_001271904.1	NP_001258833.1			GSK3B interacting protein																		CCATGGAGCTAAGCAGTATGT	0.348000													19	20					0	0	0.006122	0	0
SELP	6403	broad.mit.edu	37	1	169580899	169580899	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:169580899G>T	ENST00000263686.6	-	7	1015	c.978C>A	c.(976-978)caC>caA	p.H326Q	SELP_ENST00000367788.2_Missense_Mutation_p.H264Q|SELP_ENST00000367786.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.H264Q|SELP_ENST00000458599.2_Intron|SELP_ENST00000367792.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	326	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGGCTTCCAGGTGCTGACACT	0.507000													29	73					6.07407e-21	7.8034e-21	0.007291	1	0
KIFAP3	22920	broad.mit.edu	37	1	169953793	169953793	+	Silent	SNP	A	A	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:169953793A>T	ENST00000367765.1	-	12	2704	c.1203T>A	c.(1201-1203)atT>atA	p.I401I	KIFAP3_ENST00000361580.2_Silent_p.I441I|KIFAP3_ENST00000540905.1_Silent_p.I143I|KIFAP3_ENST00000367767.1_Silent_p.I397I|KIFAP3_ENST00000538366.1_Silent_p.I363I	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	441					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTCCAAGTCAATTCGTTCAT	0.363000													13	28					0	0	0.002450	0	0
DKK2	27123	broad.mit.edu	37	4	107845337	107845337	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:107845337C>A	ENST00000285311.3	-	4	1259	c.554G>T	c.(553-555)cGa>cTa	p.R185L	DKK2_ENST00000513208.1_Missense_Mutation_p.R85L|DKK2_ENST00000510463.1_Missense_Mutation_p.R139L	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	185	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTCTGATGATCGTAGGCAGGG	0.453000													19	31					5.35267e-07	6.03834e-07	0.007413	1	0
ZNF835	90485	broad.mit.edu	37	19	57175427	57175427	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:57175427G>A	ENST00000537055.2	-	2	1371	c.1140C>T	c.(1138-1140)caC>caT	p.H380H		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCACGAGGCGGTGCTGGAGGA	0.672000													33	28					0	0	0.012213	0	0
INSR	3643	broad.mit.edu	37	19	7141783	7141783	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:7141783C>T	ENST00000341500.5	-	12	2590	c.2551G>A	c.(2551-2553)Gag>Aag	p.E851K	INSR_ENST00000302850.5_Missense_Mutation_p.E863K	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	863	Fibronectin type-III 3.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACGTTGTTCTCAAAGATTTCA	0.502000													10	56					0	0	0.008291	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748132	19748132	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr13:19748132G>A	ENST00000400113.3	-	5	1328	c.1224C>T	c.(1222-1224)taC>taT	p.Y408Y		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	408					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTTCTCCCACGTACCAGTGCA	0.602000													56	127					0	0	0.003610	0	0
RAB6B	51560	broad.mit.edu	37	3	133557009	133557009	+	Splice_Site	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:133557009C>A	ENST00000285208.4	-	6	845		c.e6+1		RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000486858.1_Splice_Site|RAB6B_ENST00000543906.1_Splice_Site	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family						protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						TGTGTCCTCACCTGCTTCACG	0.627000													45	88					2.77807e-22	3.59437e-22	0.013114	1	0
CDK5RAP2	55755	broad.mit.edu	37	9	123169402	123169402	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:123169402G>A	ENST00000349780.4	-	32	5030	c.4851C>T	c.(4849-4851)agC>agT	p.S1617S	CDK5RAP2_ENST00000359309.3_Silent_p.S1576S|CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000360822.3_Silent_p.S1585S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1617					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCTTGAGCCTGCTCTGCAGAG	0.602000													14	35					0	0	0.004007	0	0
XRCC2	7516	broad.mit.edu	37	7	152346361	152346361	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:152346361G>A	ENST00000359321.1	-	3	294	c.209C>T	c.(208-210)tCa>tTa	p.S70L	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	70					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCCACCTTCTGATTTGGGAAG	0.388000								Homologous recombination					8	38					0	0	0.006214	0	0
SETD2	29072	broad.mit.edu	37	3	47088029	47088029	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:47088029G>C	ENST00000409792.3	-	16	7088	c.7046C>G	c.(7045-7047)gCc>gGc	p.A2349G		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2349	Gln-rich.|Low charge region.				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)		CACTGCTGCGGCTGGCTGTAC	0.463000			"""N, F, S, Mis"""		clear cell renal carcinoma								9	36					0	0	0.006214	0	0
PRLH	51052	broad.mit.edu	37	2	238475665	238475665	+	Silent	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:238475665C>T	ENST00000165524.1	+	2	111	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	37						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		CCCCTGACATCAATCCTGCCT	0.677000													30	50					0	0	0.008361	0	0
ATP12A	479	broad.mit.edu	37	13	25262552	25262552	+	Silent	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr13:25262552C>G	ENST00000218548.6	+	4	657	c.324C>G	c.(322-324)ctC>ctG	p.L108L	ATP12A_ENST00000381946.3_Silent_p.L108L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	108					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCAAGTTCCTCAAGCAGATGG	0.607000													58	284					0	0	0.003610	0	0
SPG11	80208	broad.mit.edu	37	15	44955723	44955723	+	Silent	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr15:44955723G>C	ENST00000261866.7	-	1	139	c.123C>G	c.(121-123)ctC>ctG	p.L41L	SPG11_ENST00000535302.2_Silent_p.L41L|SPG11_ENST00000427534.2_Silent_p.L41L|SPG11_ENST00000558319.1_Silent_p.L41L|SPG11_ENST00000559193.1_Silent_p.L41L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	41					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCCGGGAGCCGAGCTGCCCCA	0.726000													5	11					0	0	0.000602	0	0
UBQLN4	56893	broad.mit.edu	37	1	156013886	156013886	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:156013886G>A	ENST00000368309.3	-	6	1121	c.1029C>T	c.(1027-1029)ccC>ccT	p.P343P	UBQLN4_ENST00000368307.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	343						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CACCGGACCCGGGGGCCTGGG	0.687000													6	27					0	0	0.001168	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417947	105417947	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr14:105417947C>T	ENST00000333244.5	-	7	3960	c.3841G>A	c.(3841-3843)Gag>Aag	p.E1281K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1281						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCGTCACCTCTGCCTTATGA	0.617000													104	84					0	0	0.003610	0	0
FRYL	285527	broad.mit.edu	37	4	48542798	48542798	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:48542798C>G	ENST00000537810.1	-	46	6471	c.5867G>C	c.(5866-5868)cGg>cCg	p.R1956P	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.R1956P|FRYL_ENST00000358350.4_Missense_Mutation_p.R1956P|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	1956					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGTGTTACTCCGCCGCCGGTC	0.418000													18	38					0	0	0.007413	0	0
RASAL2	9462	broad.mit.edu	37	1	178420782	178420782	+	Silent	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:178420782G>C	ENST00000448150.3	+	10	2468	c.1650G>C	c.(1648-1650)ctG>ctC	p.L550L	RASAL2_ENST00000462775.1_Silent_p.L420L|RASAL2_ENST00000367649.3_Silent_p.L568L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	420					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTAGTGAACTGATAGACCATC	0.418000													23	94					0	0	0.002299	0	0
USP26	83844	broad.mit.edu	37	X	132160639	132160639	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:132160639T>A	ENST00000511190.1	-	6	2079	c.1610A>T	c.(1609-1611)cAg>cTg	p.Q537L	USP26_ENST00000406273.1_Missense_Mutation_p.Q537L|USP26_ENST00000370832.1_Missense_Mutation_p.Q537L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	537					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GATGACTTCCTGGTCATTCTT	0.408000													51	32					0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10299898	10299898	+	Silent	SNP	C	C	G	rs146773971		TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:10299898C>G	ENST00000403437.2	-	32	4594	c.4500G>C	c.(4498-4500)acG>acC	p.T1500T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1500					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCTTCTTAGCGTTTCGAGTT	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				12	16					0	0	0.010729	0	0
VAV2	7410	broad.mit.edu	37	9	136642532	136642532	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:136642532C>A	ENST00000371851.1	-	21	2239	c.1914G>T	c.(1912-1914)aaG>aaT	p.K638N	VAV2_ENST00000406606.3_Missense_Mutation_p.K638N|VAV2_ENST00000371850.3_Missense_Mutation_p.K648N			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	648	SH3 1.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	p.K638N(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CAGGGCAGGGCTTCACAGATG	0.597000													41	60					1.61863e-15	2.01774e-15	0.003610	1	0
EFEMP2	30008	broad.mit.edu	37	11	65635412	65635412	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:65635412G>C	ENST00000307998.6	-	10	1320	c.1090C>G	c.(1090-1092)Cag>Gag	p.Q364E	EFEMP2_ENST00000528176.1_Missense_Mutation_p.Q364E	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	364					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GAGGTCGCCTGGATCTGGAAC	0.577000													14	83					0	0	0.001855	0	0
GPR158	57512	broad.mit.edu	37	10	25465055	25465055	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:25465055C>A	ENST00000376351.3	+	1	1065	c.706C>A	c.(706-708)Cgc>Agc	p.R236S	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	236						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCACTTACACCGCCGCGGCCC	0.701000													3	6					2.56e-06	2.82947e-06	0.009096	1	0
REG3A	5068	broad.mit.edu	37	2	79384798	79384798	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:79384798C>G	ENST00000393878.1	-	4	614	c.360G>C	c.(358-360)tgG>tgC	p.W120C	REG3A_ENST00000409839.3_Missense_Mutation_p.W120C|REG3A_ENST00000305165.2_Missense_Mutation_p.W120C	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	120	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TACTCCACTCCCAACCTTCTC	0.552000													46	31					0	0	0.003610	0	0
SFR1	119392	broad.mit.edu	37	10	105883633	105883633	+	Silent	SNP	A	A	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:105883633A>G	ENST00000336358.5	+	2	1002	c.483A>G	c.(481-483)caA>caG	p.Q161Q	SFR1_ENST00000369727.3_Silent_p.Q99Q|SFR1_ENST00000369729.3_Silent_p.Q86Q			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	99					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										TGGAATTTCAAGAAAGTTTTA	0.328000													23	21					0	0	0.012319	0	0
ABCB9	23457	broad.mit.edu	37	12	123419844	123419844	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr12:123419844C>T	ENST00000542678.1	-	10	4716	c.1878G>A	c.(1876-1878)atG>atA	p.M626I	ABCB9_ENST00000346530.5_Missense_Mutation_p.M583I|ABCB9_ENST00000442833.2_Missense_Mutation_p.M626I|ABCB9_ENST00000344275.7_Missense_Mutation_p.M626I|ABCB9_ENST00000442028.2_Missense_Mutation_p.M626I|ABCB9_ENST00000392439.3_Missense_Mutation_p.M626I|ABCB9_ENST00000280560.8_Missense_Mutation_p.M626I|ABCB9_ENST00000540285.1_Missense_Mutation_p.M563I			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	626	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCTGGAGTTCCATGATGAAGC	0.617000													4	14					0	0	0.009096	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86522305	86522305	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:86522305C>T	ENST00000450689.2	-	20	2982	c.2797G>A	c.(2797-2799)Ggt>Agt	p.G933S	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G766S|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G693S|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G862S	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	933						integral to membrane		p.G693C(1)|p.G933C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GCTCCCACACCGGCTCCCACC	0.453000													42	63					0	0	0.006999	0	0
OR2A4	79541	broad.mit.edu	37	6	132021854	132021854	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:132021854T>C	ENST00000315453.2	-	1	781	c.688A>G	c.(688-690)Agg>Ggg	p.R230G	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		TGAACTTCCCTTGATTGGATC	0.488000													10	81					0	0	0.002450	0	0
B4GALT5	9334	broad.mit.edu	37	20	48260100	48260100	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr20:48260100C>T	ENST00000371711.4	-	4	639	c.452G>A	c.(451-453)gGt>gAt	p.G151D		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	151					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CTTCCAGTGACCTCCGAGCTT	0.493000													19	81					0	0	0.010504	0	0
SLC24A5	283652	broad.mit.edu	37	15	48413264	48413264	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr15:48413264C>T	ENST00000482911.2	+	1	64	c.23C>T	c.(22-24)aCa>aTa	p.T8I	SLC24A5_ENST00000341459.3_Missense_Mutation_p.T8I|SLC24A5_ENST00000449382.2_Missense_Mutation_p.T8I			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	8					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GGGGGCCAAACATGGGCGAGA	0.572000													4	16					0	0	0.009096	0	0
ADCY2	108	broad.mit.edu	37	5	7804778	7804778	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:7804778C>G	ENST00000338316.4	+	22	2945	c.2856C>G	c.(2854-2856)agC>agG	p.S952R	ADCY2_ENST00000537121.1_Missense_Mutation_p.S772R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	952					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CAGGTCTGAGCGCTGTGCCCA	0.527000													8	46					0	0	0.003080	0	0
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													5	75					1.23904e-05	1.34496e-05	0.000602	1	0
ABCG4	64137	broad.mit.edu	37	11	119029015	119029015	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:119029015G>A	ENST00000307417.3	+	10	1504	c.1140G>A	c.(1138-1140)agG>agA	p.R380R	ABCG4_ENST00000531739.1_Silent_p.R380R|ABCG4_ENST00000449422.2_Silent_p.R380R	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	380					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCTTCAAGAGGACCTTCCTGT	0.572000													119	239					0	0	0.003610	0	0
COL20A1	57642	broad.mit.edu	37	20	61937232	61937232	+	Splice_Site	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr20:61937232G>A	ENST00000422202.1	+	4	405		c.e4-1		COL20A1_ENST00000358894.6_Splice_Site|COL20A1_ENST00000435874.1_Splice_Site|COL20A1_ENST00000326996.6_Splice_Site			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1						cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TCTCCCTGCAGTTGAGGATCT	0.657000													10	43					0	0	0.008291	0	0
ZNF461	92283	broad.mit.edu	37	19	37130448	37130448	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr19:37130448G>A	ENST00000588268.1	-	6	1026	c.799C>T	c.(799-801)Cat>Tat	p.H267Y	ZNF461_ENST00000360357.4_Missense_Mutation_p.H244Y|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCACCATTATGAATTCTTAGA	0.353000													6	39					0	0	0.001168	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077650	32077650	+	RNA	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr16:32077650G>C	ENST00000354689.6	+	0	265				RP11-1166P10.6_ENST00000566806.1_RNA																							CCTGAGAGCCGAGGACACGGC	0.527000													45	556					0	0	0.003610	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350668	50350668	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:50350668C>A	ENST00000376020.2	-	6	3499	c.3474G>T	c.(3472-3474)gaG>gaT	p.E1158D	SHROOM4_ENST00000460112.3_Missense_Mutation_p.E1042D|SHROOM4_ENST00000289292.7_Missense_Mutation_p.E1158D	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1158	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGGGTGGCAGctcctcttcct	0.562000													9	6					0.000442599	0.000462949	0.006214	1	0
PCDH17	27253	broad.mit.edu	37	13	58208714	58208714	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr13:58208714G>C	ENST00000377918.3	+	1	2060	c.2034G>C	c.(2032-2034)aaG>aaC	p.K678N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	678	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGTGGCCAAGCTCATCATCC	0.652000													33	78					0	0	0.002836	0	0
UGT2B11	10720	broad.mit.edu	37	4	70074182	70074182	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:70074182G>C	ENST00000446444.1	-	3	897	c.889C>G	c.(889-891)Cag>Gag	p.Q297E	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	297					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CCAGAGCTCTGTACAAACTCC	0.403000													29	142					0	0	0.002836	0	0
CNBD2	140894	broad.mit.edu	37	20	34583046	34583046	+	Silent	SNP	T	T	C			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr20:34583046T>C	ENST00000373973.3	+	8	1115	c.942T>C	c.(940-942)gaT>gaC	p.D314D	CNBD2_ENST00000349339.1_Silent_p.D314D|CNBD2_ENST00000538900.1_Silent_p.D314D					cyclic nucleotide binding domain containing 2																		AGCTGATAGATGGCAGACCTC	0.597000											OREG0025897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	50					0	0	0.010504	0	0
PLCL1	5334	broad.mit.edu	37	2	198950263	198950263	+	Silent	SNP	G	G	A			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr2:198950263G>A	ENST00000428675.1	+	2	2420	c.2022G>A	c.(2020-2022)ccG>ccA	p.P674P	PLCL1_ENST00000437704.2_Silent_p.P576P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	674	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTCAGACTCCGGGTCCAATGA	0.443000													20	76					0	0	0.008871	0	0
DDR2	4921	broad.mit.edu	37	1	162731110	162731110	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr1:162731110delT	ENST00000367922.2	+	10	1403	c.965delT	c.(964-966)ctfs	p.L322fs	DDR2_ENST00000367921.3_Frame_Shift_Del_p.L322fs	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	322					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TCCTTCCCCCTTGTCCTGGAT	0.502													19	41	---	---	---	---					
HCLS1	3059	broad.mit.edu	37	3	121351394	121351394	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:121351394delG	ENST00000314583.3	-	12	1116	c.1025delC	c.(1024-1026)cafs	p.P342fs	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Frame_Shift_Del_p.P305fs	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	342					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GGGCAGAGCTGGGGGCTCCTC	0.597													12	85	---	---	---	---					
SLC9A9	285195	broad.mit.edu	37	3	143082332	143082336	+	Frame_Shift_Del	DEL	TCAAA	TCAAA	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:143082332_143082336delTCAAA	ENST00000316549.6	-	14	1802_1806	c.1594_1598delTTTGA	c.(1594-1599)cfs	p.FD532fs		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	532					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ATACTTGTGGTCAAAGCTATACCAC	0.415													7	84	---	---	---	---					
MUC20	200958	broad.mit.edu	37	3	195452664	195452664	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr3:195452664delC	ENST00000320736.6	+	3	803	c.677delC	c.(676-678)acfs	p.T226fs	MUC20_ENST00000447234.2_Frame_Shift_Del_p.T397fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.T362fs|MUC20_ENST00000436408.1_Frame_Shift_Del_p.T397fs	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	397	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCAGTCATCACCCCCTCATGG	0.587													4	6	---	---	---	---					
LIAS	11019	broad.mit.edu	37	4	39460773	39460773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr4:39460773delG	ENST00000261434.3	+	1	154	c.36delG	c.(34-36)ctfs	p.L12fs	LIAS_ENST00000513731.1_Frame_Shift_Del_p.L12fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.L12fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.L12fs|LIAS_ENST00000515061.1_3'UTR	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN	lipoic acid synthetase	12					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	CCCGCACCCTGGGGCCCCGGG	0.627													25	69	---	---	---	---					
CDHR2	54825	broad.mit.edu	37	5	176011962	176011962	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr5:176011962delG	ENST00000510636.1	+	19	2954	c.2680delG	c.(2680-2682)tgfs	p.V894fs	CDHR2_ENST00000506348.1_Frame_Shift_Del_p.V894fs|CDHR2_ENST00000261944.5_Frame_Shift_Del_p.V894fs	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	894	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CACGCTGGTTGTGCGGGCCTG	0.612													5	3	---	---	---	---					
ZFP57	346171	broad.mit.edu	37	6	29640858	29640858	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:29640858delG	ENST00000376883.1	-	6	1381	c.970delC	c.(970-972)agfs	p.Q324fs	ZFP57_ENST00000376881.3_Frame_Shift_Del_p.Q324fs|ZFP57_ENST00000488757.1_Frame_Shift_Del_p.Q344fs			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	260					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						ACAGATGCCTGGTTCTGGGCC	0.542													27	159	---	---	---	---					
ROS1	6098	broad.mit.edu	37	6	117677871	117677871	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr6:117677871delA	ENST00000368508.3	-	25	4260	c.4062delT	c.(4060-4062)ttfs	p.F1354fs	ROS1_ENST00000368507.3_Frame_Shift_Del_p.F1349fs|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1354					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTGCTTTGGCAAAGTATATCA	0.408			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								20	47	---	---	---	---					
VWC2	375567	broad.mit.edu	37	7	49842437	49842440	+	Splice_Site	DEL	GTAT	GTAT	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr7:49842437_49842440delGTAT	ENST00000340652.3	+	3	1382		c.e3+1			NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2						negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TGCAAAAATGGTATGTGAGATCCC	0.559													9	55	---	---	---	---					
TAF1L	138474	broad.mit.edu	37	9	32633583	32633584	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr9:32633583_32633584insT	ENST00000242310.4	-	1	2083_2084	c.1994_1995insA	c.(1993-1995)agcfs	p.S665fs	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	665					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.K665fs*4(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATCTTGGCCTTTTTTTTGAT	0.480													11	450	---	---	---	---					
MMRN2	79812	broad.mit.edu	37	10	88703746	88703746	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr10:88703746delG	ENST00000372027.4	-	6	868	c.795delC	c.(793-795)gafs	p.D265fs		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	265						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGGCCTCCACGTCAAGAGACA	0.572													29	36	---	---	---	---					
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gct>g	p.DA183del	PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													12	287	---	---	---	---					
PGR	5241	broad.mit.edu	37	11	100909932	100909932	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:100909932delG	ENST00000325455.5	-	8	4170	c.2717delC	c.(2716-2718)cafs	p.P906fs	PGR_ENST00000263463.5_Frame_Shift_Del_p.P804fs|PGR_ENST00000534013.1_Frame_Shift_Del_p.P312fs	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	906	Steroid-binding.				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)	CATCATTTCTGGAAATTCAAC	0.378													9	42	---	---	---	---					
OR10G4	390264	broad.mit.edu	37	11	123886543	123886543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr11:123886543delG	ENST00000320891.4	+	1	262	c.262delG	c.(262-264)gcfs	p.G88fs		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTCCCCAAGCGGCAGGGCTAT	0.532													10	57	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	G	-	rs78710112	by1000genomes	TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr20:29628226delG	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358													10	100	---	---	---	---					
TOX2	84969	broad.mit.edu	37	20	42635313	42635313	+	Frame_Shift_Del	DEL	G	G	-	rs139380167	byFrequency	TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr20:42635313delG	ENST00000358131.5	+	3	527	c.319delG	c.(319-321)gcfs	p.G107fs	TOX2_ENST00000423191.1_Frame_Shift_Del_p.G56fs|TOX2_ENST00000372999.1_Frame_Shift_Del_p.G56fs|TOX2_ENST00000341197.3_Frame_Shift_Del_p.G98fs	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	107	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCTGTGCCACGGCCTCACCCC	0.622													27	64	---	---	---	---					
CABLES2	81928	broad.mit.edu	37	20	60966081	60966081	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr20:60966081delA	ENST00000279101.5	-	10	1391	c.1383delT	c.(1381-1383)tafs	p.Y461fs		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	461					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TCTCGGGAAGATACAGGGCCA	0.567													32	47	---	---	---	---					
RPL3	6122	broad.mit.edu	37	22	39714471	39714472	+	Frame_Shift_Ins	INS	-	-	G	rs141020322		TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chr22:39714471_39714472insG	ENST00000216146.4	-	2	302_303	c.129_130insC	c.(127-132)ctcagcfs	p.S44fs	RPL3_ENST00000401609.1_5'UTR|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	44					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					AGGAAGGCTGTGAGGTGGACCG	0.584													32	64	---	---	---	---					
ENOX2	10495	broad.mit.edu	37	X	129771355	129771355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7150-01A-21D-2036-08	TCGA-78-7150-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68a9ab8-5042-437c-be61-a1cf0f9f9210	67131ca6-922d-4103-b302-ce1f13df83fa	g.chrX:129771355delC	ENST00000338144.3	-	12	1663	c.1246delG	c.(1246-1248)aafs	p.E417fs	ENOX2_ENST00000394363.1_Frame_Shift_Del_p.E388fs|ENOX2_ENST00000370935.1_Frame_Shift_Del_p.E388fs|ENOX2_ENST00000370927.1_Frame_Shift_Del_p.E417fs	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	417					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TCATTTTCTTCCTTCAGAGCT	0.408													39	31	---	---	---	---					
