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
LRRC47	57470	broad.mit.edu	37	1	3699235	3699235	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:3699235T>C	uc001akx.1	-	4	1431	c.1403A>G	c.(1402-1404)gAg>gGg	p.E468G		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.	468					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTTTGTCTTCTCACTGTTGGT	0.483												
PRAMEF12	390999	broad.mit.edu	37	1	12837263	12837263	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:12837263G>C	uc001aui.3	+	2	1000	c.973G>C	c.(973-975)Gac>Cac	p.D325H		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	325										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAAGAGCTAGACCTGAGGGG	0.577												
FHL3	2275	broad.mit.edu	37	1	38464646	38464646	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:38464646C>T	uc001cck.3	-	3	510	c.331_splice	c.e3+1	p.G111_splice	FHL3_uc001ccm.3_Splice_Site_p.G3_splice|FHL3_uc009vvl.2_Splice_Site_p.G111_splice	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	111	LIM zinc-binding 2.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GAACACATACCAGGCATGACA	0.527												
CDCP2	200008	broad.mit.edu	37	1	54605733	54605733	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:54605733G>A	uc001cwv.1	-	3	1658	c.810C>T	c.(808-810)agC>agT	p.S270S		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	270	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GGTACTGTGGGCTGGAGAAGT	0.617												
RPF1	80135	broad.mit.edu	37	1	84962001	84962001	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:84962001T>C	uc001djv.4	+	7	1001	c.956T>C	c.(955-957)cTt>cCt	p.L319P		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	Homo sapiens ribosome production factor 1 homolog (S. cerevisiae) (RPF1), mRNA.	319	Brix.|RNA-binding (By similarity).				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TTAAGGTCTCTTCAGAAAGGA	0.323												
FLG	2312	broad.mit.edu	37	1	152282534	152282534	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:152282534G>A	uc001ezu.1	-	2	4864	c.4828C>T	c.(4828-4830)Cgg>Tgg	p.R1610W		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1610	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCAGACCGCCTCTCAGAG	0.572									Ichthyosis			
NCSTN	23385	broad.mit.edu	37	1	160318815	160318815	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:160318815A>G	uc001fvx.3	+	2	341	c.217A>G	c.(217-219)Atc>Gtc	p.I73V	NCSTN_uc009wtk.1_Non-coding_Transcript|NCSTN_uc001fvy.3_Missense_Mutation_p.I53V|NCSTN_uc010pjf.2_Missense_Mutation_p.I73V|NCSTN_uc010pjg.2_5'Flank	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	73					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	p.I73N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAGGGGTTATCCACGTAGT	0.468												
RYR2	6262	broad.mit.edu	37	1	237780610	237780610	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:237780610T>C	uc001hyl.1	+	37	5860	c.5740T>C	c.(5740-5742)Tgt>Cgt	p.C1914R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1914	4 X approximate repeats.				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)			TCAGTACCTCTGTGACTGCCA	0.398												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
RET	5979	broad.mit.edu	37	10	43597850	43597850	+	Missense_Mutation	SNP	G	G	A	rs138265837		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr10:43597850G>A	uc001jal.3	+	2	588	c.398G>A	c.(397-399)cGt>cAt	p.R133H	RET_uc001jak.1_Missense_Mutation_p.R133H|RET_uc010qez.1_5'Flank	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	133					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)	ACATCCCTTCGTGAGGGCGAG	0.617		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			
FAM13C	220965	broad.mit.edu	37	10	61022289	61022289	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr10:61022289G>C	uc010qif.1	-	9	1273	c.1207C>G	c.(1207-1209)Ccg>Gcg	p.P403A	FAM13C_uc010qid.2_Missense_Mutation_p.P298A|FAM13C_uc001jkn.3_Missense_Mutation_p.P381A|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Missense_Mutation_p.P298A|FAM13C_uc001jkp.3_Missense_Mutation_p.P298A	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	381										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTGGCTCCGGGCCCGCAGCT	0.547												
RNH1	6050	broad.mit.edu	37	11	494709	494709	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:494709G>A	uc001lpk.1	-	8	2776	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	RNH1_uc001lpl.1_Silent_p.S456S|RNH1_uc001lpm.1_Silent_p.S456S|RNH1_uc001lpn.1_Silent_p.S456S|RNH1_uc001lpo.1_Silent_p.S456S|RNH1_uc001lpp.2_Silent_p.S456S|RNH1_uc001lpq.2_Silent_p.S456S|RNH1_uc001lpr.2_Silent_p.S456S|RNH1_uc001lps.2_Silent_p.S456S	NM_203389	NP_976323	P13489	RINI_HUMAN	Homo sapiens ribonuclease/angiogenin inhibitor 1 (RNH1), transcript variant 8, mRNA.	456					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACCCTCAGGGATGGCTTGT	0.647												
CD59	966	broad.mit.edu	37	11	33731856	33731856	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:33731856T>C	uc001mus.4	-	2	485	c.203A>G	c.(202-204)gAg>gGg	p.E68G	CD59_uc009yjx.3_Missense_Mutation_p.E68G|CD59_uc009yjy.3_Missense_Mutation_p.E68G|CD59_uc009yjz.3_Missense_Mutation_p.E68G|CD59_uc001mut.4_Missense_Mutation_p.E68G|CD59_uc009yka.3_Missense_Mutation_p.E68G|CD59_uc001muu.4_Missense_Mutation_p.E68G|CD59_uc001muv.4_Missense_Mutation_p.E68G	NM_001127223	NP_976076	P13987	CD59_HUMAN	Homo sapiens CD59 molecule, complement regulatory protein (CD59), transcript variant 5, mRNA.	68	UPAR/Ly6.				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						ATTGCAATGCTCAAACTTCCA	0.433												
OR5AK2	390181	broad.mit.edu	37	11	56756567	56756567	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:56756567A>G	uc010rjp.2	+	0	179	c.179A>G	c.(178-180)tAc>tGc	p.Y60C		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T59T(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ACACTCACGTACTTTTTTCTA	0.358												
PC	5091	broad.mit.edu	37	11	66618277	66618277	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:66618277C>A	uc001ojn.1	-	15	2390	c.2341G>T	c.(2341-2343)Gca>Tca	p.A781S	PC_uc001ojo.1_Missense_Mutation_p.A781S|PC_uc001ojp.1_Missense_Mutation_p.A781S	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	781	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGCATGGCTGCCACGCCTGCC	0.657												
SLC38A4	55089	broad.mit.edu	37	12	47163207	47163207	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr12:47163207C>T	uc001rpi.2	-	14	1703	c.1304G>A	c.(1303-1305)cGt>cAt	p.R435H	SLC38A4_uc001rpj.2_Missense_Mutation_p.R435H	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	435					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CACTGATGTACGAATCTTAAA	0.353												
TFCP2	7024	broad.mit.edu	37	12	51501060	51501060	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr12:51501060C>T	uc001rxw.3	-	6	1508	c.787G>A	c.(787-789)Gag>Aag	p.E263K	TFCP2_uc001rxv.2_Missense_Mutation_p.E263K|TFCP2_uc009zlx.2_Missense_Mutation_p.E212K|TFCP2_uc009zly.1_Missense_Mutation_p.E165K	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	263	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TGATATTTCTCCTTTTCATGA	0.323												
SLC9A7P1	121456	broad.mit.edu	37	12	98850560	98850560	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr12:98850560C>T	uc009ztm.2	-	0	364	c.175G>A	c.(175-177)Gtt>Att	p.V59I						Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1 (SLC9A7P1), non-coding RNA.																		ATCACCCCAACGATGAGCCCA	0.552												
PCDH9	5101	broad.mit.edu	37	13	67802278	67802279	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr13:67802278_67802279delCA	uc001vik.3	-	1	986_987	c.294_295delTG	c.(292-297)tgtgctfs	p.C98fs	PCDH9_uc001vil.3_Frame_Shift_Del_p.C98fs|PCDH9_uc010thl.2_Frame_Shift_Del_p.C98fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.C98fs	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	98	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAGGCGCCAGCACAGAGTTTTT	0.436												
FARP1	10160	broad.mit.edu	37	13	99061722	99061722	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr13:99061722G>A	uc001vnh.3	+	13	1784	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	FARP1_uc001vnj.3_Silent_p.P515P	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	515					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGATCAGCCCGCTGCTGAATG	0.652												
RNASE2	6036	broad.mit.edu	37	14	21424331	21424331	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr14:21424331A>T	uc021ros.1	+	0	401	c.401A>T	c.(400-402)tAt>tTt	p.Y134F	RNASE2_uc010aif.2_Missense_Mutation_p.Y134F|RNASE2_uc001vyl.1_Missense_Mutation_p.Y134F	NM_002934	NP_002925	P10153	RNAS2_HUMAN	Homo sapiens ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) (RNASE2), mRNA.	134					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		AACATGTTCTATATAGTTGCA	0.463												
AJUBA	84962	broad.mit.edu	37	14	23444297	23444297	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr14:23444297C>T	uc001whz.3	-	4	1629	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	AJUBA_uc001why.3_Missense_Mutation_p.G2E	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA.	419	LIM zinc-binding 2.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										ATAGGACTTCCCCATTGCTTG	0.502												
KCNH5	27133	broad.mit.edu	37	14	63316419	63316419	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr14:63316419A>T	uc001xfx.3	-	7	1572	c.1521T>A	c.(1519-1521)gaT>gaA	p.D507E	KCNH5_uc001xfy.3_Missense_Mutation_p.D507E|KCNH5_uc001xfz.1_Missense_Mutation_p.D449E	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	507					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGACAATATAATCCATGACTC	0.378												
ADAMTS7	11173	broad.mit.edu	37	15	79059849	79059849	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr15:79059849C>T	uc002bej.4	-	17	2942	c.2731G>A	c.(2731-2733)Gtg>Atg	p.V911M	ADAMTS7_uc010und.1_Intron	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	911	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V911M(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCAGCCCCACGCTGCGGATG	0.706												
ADAMTS17	170691	broad.mit.edu	37	15	100591784	100591784	+	Silent	SNP	G	G	A	rs146325180	by1000genomes	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr15:100591784G>A	uc002bvv.1	-	16	2527	c.2448C>T	c.(2446-2448)tgC>tgT	p.C816C		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	816	TSP type-1 2.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C816C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CACCTCCGCCGCACTGCACAC	0.567												
IL4R	3566	broad.mit.edu	37	16	27374437	27374437	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr16:27374437G>A	uc002don.3	+	10	2006	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	IL4R_uc002dop.4_Silent_p.Q573Q|IL4R_uc010bxy.3_Silent_p.Q588Q|IL4R_uc002doo.3_Silent_p.Q428Q	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	588	Required for IL4-induced gene expression.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GTGGCACCCAGGCCAGTGCGG	0.637												
YWHAE	7531	broad.mit.edu	37	17	1303395	1303395	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:1303395G>A	uc002fsj.3	-	0	162	c.10C>T	c.(10-12)Cga>Tga	p.R4*	YWHAE_uc002fsk.3_5'UTR|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Non-coding_Transcript	NM_006761	NP_006752	P62258	1433E_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.	4					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		AGATCCTCTCGATCATCCATA	0.657			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome					
YBX2	51087	broad.mit.edu	37	17	7194458	7194458	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:7194458A>G	uc002gfq.2	-	3	470	c.413T>C	c.(412-414)gTt>gCt	p.V138A		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	138	CSD.|Required for cytoplasmic retention (By similarity).				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CCCATCTCCAACGCTGCGCAG	0.502												
TP53	7157	broad.mit.edu	37	17	7577609	7577609	+	Splice_Site	SNP	C	C	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:7577609C>G	uc002gim.2	-	7	867	c.673_splice	c.e7-1	p.V225_splice	TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.3_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	225	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in a sporadic cancer; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in a sporadic cancer; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		CAGAGCCAACCTAGGAGATAA	0.527		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)		
WDR16	146845	broad.mit.edu	37	17	9546402	9546402	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:9546402G>T	uc010coc.3	+	14	2009	c.1780G>T	c.(1780-1782)Gtg>Ttg	p.V594L	USP43_uc002gma.4_5'Flank|USP43_uc010cod.3_5'Flank|USP43_uc010vva.2_5'Flank|WDR16_uc002gly.3_Missense_Mutation_p.V584L|WDR16_uc002glz.3_Missense_Mutation_p.V516L			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	584						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCACGTTGGGGTGGGACACAG	0.443												
BRCA1	672	broad.mit.edu	37	17	41245683	41245683	+	Missense_Mutation	SNP	G	G	A	rs56039126		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:41245683G>A	uc002icq.3	-	9	2097	c.1865C>T	c.(1864-1866)gCg>gTg	p.A622V	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.A551V|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.A575V|BRCA1_uc002ict.3_Missense_Mutation_p.A622V|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.A622V|BRCA1_uc002ide.1_Missense_Mutation_p.A453V|BRCA1_uc010cyy.1_Missense_Mutation_p.A622V|BRCA1_uc010whs.1_Missense_Mutation_p.A622V|BRCA1_uc010cyz.2_Missense_Mutation_p.A575V|BRCA1_uc010cza.2_Missense_Mutation_p.A596V|BRCA1_uc010wht.1_Missense_Mutation_p.A326V	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	622					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAGTTCAAGCGCATGAATATG	0.358			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)		
CSH2	1443	broad.mit.edu	37	17	61950623	61950623	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:61950623G>A	uc002jch.3	-	1	202	c.87C>T	c.(85-87)acC>acT	p.T29T	CSH2_uc002jci.3_Silent_p.T29T|CSH2_uc002jcg.3_Silent_p.T29T	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	29					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	p.T29T(3)|p.T29N(1)		endometrium(2)|large_intestine(1)|lung(3)	6						ATAACGGAACGGTTTGGACGG	0.597												
BPTF	2186	broad.mit.edu	37	17	65888098	65888098	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:65888098A>T	uc002jgf.3	+	4	2064	c.2003A>T	c.(2002-2004)cAg>cTg	p.Q668L	BPTF_uc002jge.3_Missense_Mutation_p.Q794L|BPTF_uc010wqm.1_Missense_Mutation_p.Q731L	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	794	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGAGCCAGCAGGTGGCAGCC	0.433												
ABCA6	23460	broad.mit.edu	37	17	67077247	67077247	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:67077247G>A	uc002jhw.1	-	36	4831	c.4656C>T	c.(4654-4656)gaC>gaT	p.D1552D		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1552					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GAGGGTAAACGTCTGCCACGG	0.373												
SERPINB3	6317	broad.mit.edu	37	18	61323102	61323102	+	Missense_Mutation	SNP	C	C	T	rs140650845	by1000genomes	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr18:61323102C>T	uc002lji.3	-	7	1106	c.962G>A	c.(961-963)cGc>cAc	p.R321H	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.R269H	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	321					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CACGAGACCGCGGCTCCCGGT	0.542												
VAV1	7409	broad.mit.edu	37	19	6828653	6828653	+	Silent	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:6828653C>T	uc002mfu.1	+	11	1210	c.1113C>T	c.(1111-1113)aaC>aaT	p.N371N	VAV1_uc010xjh.1_Silent_p.N339N|VAV1_uc010dva.1_Silent_p.N371N|VAV1_uc002mfv.1_Silent_p.N316N	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	371	DH.				apoptosis|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|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGTGCGTGAACGAGGTCAAGC	0.637												
TMEM205	374882	broad.mit.edu	37	19	11453778	11453778	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:11453778T>G	uc002mra.2	-	3	590	c.283A>C	c.(283-285)Agc>Cgc	p.S95R	TMEM205_uc002mrb.2_Missense_Mutation_p.S95R|TMEM205_uc002mqz.2_Missense_Mutation_p.S95R	NM_033408	NP_940938	Q6UW68	TM205_HUMAN	Homo sapiens transmembrane protein 205 (TMEM205), transcript variant 2, mRNA.	95						integral to membrane				endometrium(1)|lung(1)	2						AGCGTAAGGCTCAGGAACAGC	0.642												
MLL2	9757	broad.mit.edu	37	19	36210728	36210728	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:36210728C>A	uc021usv.1	+	2	479	c.479C>A	c.(478-480)cCc>cAc	p.P160H	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1855					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AAGACGACCCCCCTTCCTCCT	0.612			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
LILRA4	23547	broad.mit.edu	37	19	54848149	54848149	+	Silent	SNP	C	C	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:54848149C>G	uc002qfj.3	-	5	1275	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	LILRA4_uc002qfi.3_Silent_p.L340L	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	406	Ig-like C2-type 4.					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)		TGGGGTGAGACAGCAGGTAGG	0.592												
ZIM3	114026	broad.mit.edu	37	19	57646590	57646590	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:57646590A>T	uc002qnz.1	-	4	1501	c.1115T>A	c.(1114-1116)tTt>tAt	p.F372Y		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	372					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)		CTTCTGGATAAAGGTATTTCC	0.378												
ASXL2	55252	broad.mit.edu	37	2	25966927	25966927	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:25966927G>T	uc002rgs.2	-	11	2500	c.2279C>A	c.(2278-2280)cCa>cAa	p.P760Q	ASXL2_uc002rgt.1_Missense_Mutation_p.P500Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCTGGCTTGGGGTGGTCTT	0.587												
TMEM214	54867	broad.mit.edu	37	2	27263616	27263616	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:27263616A>T	uc002ria.4	+	16	2091	c.1981A>T	c.(1981-1983)Agt>Tgt	p.S661C	TMEM214_uc002rib.4_Missense_Mutation_p.S616C	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	661						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GACACAGCTCAGTGAGGCTGT	0.532												
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612												
THSD7B	80731	broad.mit.edu	37	2	138421119	138421119	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:138421119G>T	uc002tva.1	+	24	4535	c.4535G>T	c.(4534-4536)gGa>gTa	p.G1512V	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											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)		ATTTTTAAAGGATGGTCTCTT	0.368												
SCN3A	6328	broad.mit.edu	37	2	165996030	165996030	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:165996030T>C	uc002ucx.3	-	13	2600	c.2108A>G	c.(2107-2109)cAa>cGa	p.Q703R	SCN3A_uc002ucy.3_Missense_Mutation_p.Q654R|SCN3A_uc002ucz.3_Missense_Mutation_p.Q654R|SCN3A_uc002uda.1_Missense_Mutation_p.Q523R|SCN3A_uc002udb.1_Missense_Mutation_p.Q523R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	703						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CACGGCTCTTTGCCTTCCAGA	0.463												
TTN	7273	broad.mit.edu	37	2	179610349	179610349	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:179610349C>A	uc021vsy.1	-						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript|TTN_uc002unb.2_Missense_Mutation_p.G5593V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								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)			CTCAGCCATTCCTGATTTGTT	0.378												
DNAJC10	54431	broad.mit.edu	37	2	183597246	183597246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:183597246C>T	uc002uow.1	+	9	1241	c.826C>T	c.(826-828)Cga>Tga	p.R276*	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Nonsense_Mutation_p.R276*|DNAJC10_uc010fro.1_Intron	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	276					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCACAGACACGACTCAGGCT	0.348												
HSPE1-MOB4	25843	broad.mit.edu	37	2	198415097	198415097	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:198415097T>C	uc021vum.1	+	7	1081	c.641T>C	c.(640-642)tTt>tCt	p.F214S	HSPE1-MOB4_uc002uum.4_Missense_Mutation_p.F146S|HSPE1-MOB4_uc002uun.4_Missense_Mutation_p.F178S|HSPE1-MOB4_uc010fsn.3_Missense_Mutation_p.F157S|HSPE1-MOB4_uc010fso.3_Missense_Mutation_p.F79S|HSPE1-MOB4_uc010zgz.2_Missense_Mutation_p.F79S|HSPE1-MOB4_uc021vun.1_Missense_Mutation_p.F146S	NM_001202485	NP_001189414			Homo sapiens HSPE1-MOB4 readthrough (HSPE1-MOB4), mRNA.																		CGGCAGATATTTGATGAATAT	0.313												
PLCL1	5334	broad.mit.edu	37	2	198950332	198950332	+	Silent	SNP	G	G	A	rs147854527	by1000genomes	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:198950332G>A	uc010fsp.3	+	1	2489	c.2091G>A	c.(2089-2091)ccG>ccA	p.P697P	PLCL1_uc002uuv.4_Silent_p.P618P	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	697	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)	TTCTAAGGCCGTCTATAATGC	0.458												
ZDBF2	57683	broad.mit.edu	37	2	207174816	207174816	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:207174816T>G	uc002vbp.2	+	4	5814	c.5564T>G	c.(5563-5565)tTc>tGc	p.F1855C		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1855							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAAGGTCGTTTCCACTGTTAC	0.418												
SEMG2	6406	broad.mit.edu	37	20	43836974	43836974	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr20:43836974A>G	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.I346V|SEMG2_uc002xnj.2_Missense_Mutation_p.I286V	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GGCAAATAAAATATCATACCA	0.393												
UBASH3A	53347	broad.mit.edu	37	21	43846877	43846877	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr21:43846877G>A	uc002zbe.3	+	7	1202	c.1118G>A	c.(1117-1119)gGg>gAg	p.G373E	UBASH3A_uc002zbf.3_Missense_Mutation_p.G335E|UBASH3A_uc010gpe.3_Missense_Mutation_p.G335E|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	373						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AGATGCAGCGGGGAATTTCTT	0.473												
GRAP2	9402	broad.mit.edu	37	22	40364194	40364194	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr22:40364194A>C	uc003ayh.2	+	5	871	c.608A>C	c.(607-609)cAg>cCg	p.Q203P	GRAP2_uc011aom.2_Missense_Mutation_p.Q177P|GRAP2_uc011aon.2_Missense_Mutation_p.Q137P|GRAP2_uc010gya.2_Missense_Mutation_p.Q203P|GRAP2_uc011aoo.2_Missense_Mutation_p.Q131P|GRAP2_uc011aop.2_Missense_Mutation_p.Q163P|GRAP2_uc011aoq.2_Missense_Mutation_p.Q90P|GRAP2_uc003ayj.2_Missense_Mutation_p.Q203P	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	203					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						caccagccacagcctccgcaa	0.617												
FBLN2	2199	broad.mit.edu	37	3	13679178	13679178	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:13679178G>A	uc011avc.2	+	17	3837	c.3455G>A	c.(3454-3456)cGc>cAc	p.R1152H	FBLN2_uc011auz.2_Missense_Mutation_p.R1131H|FBLN2_uc011avb.2_Missense_Mutation_p.R1105H|FBLN2_uc011ava.2_Missense_Mutation_p.R1152H	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1105	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATATCTTCCGCATTGGCCCC	0.617												
CASR	846	broad.mit.edu	37	3	121981197	121981197	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:121981197C>A	uc003eew.4	+	3	1753	c.1315C>A	c.(1315-1317)Cct>Act	p.P439T	CASR_uc003eev.4_Missense_Mutation_p.P439T	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	439					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TACCTGCTTACCTGGGAGAGG	0.453												
FETUB	26998	broad.mit.edu	37	3	186362631	186362631	+	Silent	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:186362631C>T	uc010hyq.3	+	4	777	c.516C>T	c.(514-516)acC>acT	p.T172T	FETUB_uc011brz.2_Silent_p.T24T|FETUB_uc003fqn.3_Silent_p.T172T|FETUB_uc010hyr.3_Silent_p.T135T|FETUB_uc010hys.3_Silent_p.T24T|FETUB_uc003fqp.4_Silent_p.T107T	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	172	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGGCTGCCACCGAGTCTCTTG	0.473												
RAB28	9364	broad.mit.edu	37	4	13383174	13383174	+	Missense_Mutation	SNP	G	G	C	rs139395840	byFrequency	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:13383174G>C	uc003gmu.2	-	4	651	c.436C>G	c.(436-438)Cgg>Ggg	p.R146G	RAB28_uc003gmv.2_Non-coding_Transcript|RAB28_uc003gmt.2_Missense_Mutation_p.R146G|RAB28_uc011bwz.1_Missense_Mutation_p.R146G	NM_001017979	NP_001017979	P51157	RAB28_HUMAN	Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript variant 1, mRNA.	146					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	p.R146W(2)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TGGCAAAACCGTAAGTGTTTT	0.328												
NCAPG	64151	broad.mit.edu	37	4	17819684	17819684	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:17819684C>T	uc003gpp.3	+	6	1267	c.1091C>T	c.(1090-1092)cCt>cTt	p.P364L	NCAPG_uc011bxj.2_5'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	364					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TTGCCAGAGCCTGTAGTATAT	0.368												
UGT2B10	7365	broad.mit.edu	37	4	69870669	69870669	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:69870669C>A	uc011cao.1	-	7	1486	c.1360G>T	c.(1360-1362)Gcc>Tcc	p.A454S	UGT2B10_uc011can.1_Missense_Mutation_p.A370S			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	498					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCCACACAGGCCAGCAGGAAC	0.448												
ENAM	10117	broad.mit.edu	37	4	71508380	71508380	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:71508380G>T	uc011caw.1	+	8	1518	c.1237G>T	c.(1237-1239)Gta>Tta	p.V413L		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	413					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAAACACCCTGTAGGAACTAC	0.468												
HEATR7B2	133558	broad.mit.edu	37	5	41009468	41009468	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:41009468C>G	uc003jmj.4	-	31	3824	c.3334G>C	c.(3334-3336)Gcc>Ccc	p.A1112P	HEATR7B2_uc003jmi.4_Missense_Mutation_p.A667P	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1112							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CCACTGGAGGCTGGCTTTTCA	0.498												
PCDHGC5	56112	broad.mit.edu	37	5	140724302	140724302	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:140724302T>G	uc003ljm.2	+	0	702	c.702T>G	c.(700-702)gaT>gaG	p.D234E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.D234E	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	234	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTCCTGGATGCAAATGACA	0.527												
PCDHGC5	8641	broad.mit.edu	37	5	140768648	140768648	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:140768648G>A	uc003lkc.2	+	0	1197	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	403	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGAAACACGTATAAATTAG	0.433												
RNF130	55819	broad.mit.edu	37	5	179390508	179390508	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:179390508T>G	uc003mll.1	-	7	1614	c.1207A>C	c.(1207-1209)Atg>Ctg	p.M403L	RNF130_uc003mlm.1_Intron	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	403					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGATGATCATGTAGCAGAGT	0.443												
TRIM7	81786	broad.mit.edu	37	5	180625194	180625194	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:180625194T>A	uc003mmz.1	-	5	1080	c.1013A>T	c.(1012-1014)aAa>aTa	p.K338I	TRIM7_uc003mmv.1_Missense_Mutation_p.K156I|TRIM7_uc003mmw.1_Missense_Mutation_p.K130I|TRIM7_uc003mmy.1_Missense_Mutation_p.K130I|TRIM7_uc003mmx.1_Missense_Mutation_p.K130I	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	338	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TTTCTCCTCTTTCTCCAGCTC	0.517												
LY6G6C	80740	broad.mit.edu	37	6	31687971	31687971	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:31687971C>A	uc003nwh.3	-	1	117	c.62G>T	c.(61-63)cGc>cTc	p.R21L	LY6G6C_uc010jtd.3_Non-coding_Transcript	NM_025261	NP_079537	O95867	LY66C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA.	21	UPAR/Ly6.					anchored to membrane|plasma membrane		p.R21C(1)		NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GGAGTGACAGCGAATGTCAGC	0.592												
DNAH8	1769	broad.mit.edu	37	6	38805720	38805720	+	Silent	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:38805720C>A	uc021yzh.1	+	32	4477	c.4368C>A	c.(4366-4368)gcC>gcA	p.A1456A	DNAH8_uc003ooe.2_Silent_p.A1239A	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTACAGGCCAGTTTCGATG	0.328												
TAAR1	134864	broad.mit.edu	37	6	132966395	132966395	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:132966395C>G	uc003qdm.1	-	0	748	c.748G>C	c.(748-750)Gtg>Ctg	p.V250L		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	250						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	AATGTCTTCACAGCTTTCCTT	0.393												
C6orf211	79624	broad.mit.edu	37	6	151789913	151789913	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:151789913A>C	uc003qok.1	+	4	1253	c.994A>C	c.(994-996)Aat>Cat	p.N332H	C6orf211_uc011ees.1_Missense_Mutation_p.N213H	NM_024573	NP_078849	Q9H993	CF211_HUMAN	Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.	332							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GGTTTACCACAATCATATATT	0.383												
MRPL32	64983	broad.mit.edu	37	7	42977023	42977023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:42977023C>T	uc003tia.3	+	2	462	c.415C>T	c.(415-417)Cga>Tga	p.R139*	MRPL32_uc003tib.3_Non-coding_Transcript	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.	139					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AGAAATCAGACGACAGATAGG	0.493												
MYO1G	64005	broad.mit.edu	37	7	45016575	45016575	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:45016575G>C	uc003tmh.2	-	1	335	c.191C>G	c.(190-192)gCc>gGc	p.A64G	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	64	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGGTACCTGGCGATGGCCTC	0.627												
FZD1	8321	broad.mit.edu	37	7	90895152	90895152	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:90895152G>A	uc003ula.3	+	0	1370	c.957G>A	c.(955-957)tcG>tcA	p.S319S		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	319					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGCGCTTCTCGCGCACCTGGA	0.617												
TAF6	6878	broad.mit.edu	37	7	99705016	99705016	+	Silent	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:99705016A>G	uc003uth.3	-	13	2195	c.2058T>C	c.(2056-2058)ccT>ccC	p.P686P	AP4M1_uc003utd.3_Intron|TAF6_uc003utg.3_Silent_p.P551P|TAF6_uc003utm.3_Silent_p.P629P|TAF6_uc003uti.3_Silent_p.P629P|TAF6_uc003utk.3_Silent_p.P629P|TAF6_uc011kji.2_Silent_p.P666P	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	629					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGCCGGGGGAGGAACTGGAG	0.647												
ZCWPW1	55063	broad.mit.edu	37	7	100017408	100017408	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:100017408C>A	uc003uut.3	-	3	375	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.G42W|ZCWPW1_uc003uuu.1_Missense_Mutation_p.G42W|ZCWPW1_uc011kjt.1_Missense_Mutation_p.G42W|ZCWPW1_uc011kju.1_Missense_Mutation_p.G42W	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	43							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAACTGATCCCCGGGGTCTCC	0.493												
KCNU1	157855	broad.mit.edu	37	8	36766969	36766969	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:36766969G>T	uc010lvw.3	+	20	2334	c.2247G>T	c.(2245-2247)aaG>aaT	p.K749N	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	749						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGGAGCTGAAGGACATAGTGT	0.458												
FGFR1	2260	broad.mit.edu	37	8	38282202	38282202	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:38282202C>A	uc022aua.1	-	6	1703	c.761G>T	c.(760-762)cGg>cTg	p.R254L	FGFR1_uc011lbu.2_Missense_Mutation_p.R285L|FGFR1_uc011lbv.2_Missense_Mutation_p.R252L|FGFR1_uc011lbw.2_Missense_Mutation_p.R165L|FGFR1_uc003xlp.3_Missense_Mutation_p.R254L|FGFR1_uc022aub.1_Missense_Mutation_p.R252L|FGFR1_uc022auc.1_Missense_Mutation_p.R165L|FGFR1_uc022aud.1_Missense_Mutation_p.R163L|FGFR1_uc010lwk.3_Missense_Mutation_p.R246L|FGFR1_uc011lbr.2_Non-coding_Transcript|FGFR1_uc011lbs.2_Missense_Mutation_p.R94L|FGFR1_uc011lbt.1_Missense_Mutation_p.R163L|FGFR1_uc011lbx.1_Missense_Mutation_p.R165L|FGFR1_uc003xlv.3_Missense_Mutation_p.R165L|FGFR1_uc003xlu.3_Missense_Mutation_p.R163L	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	254			R -> Q (in KAL2).		axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CAGGATGGGCCGGTGAGGGGA	0.612		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""					
FNTA	2339	broad.mit.edu	37	8	42927324	42927324	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:42927324G>C	uc003xps.3	+	5	555	c.507_splice	c.e5-1	p.W169_splice	FNTA_uc003xpt.3_Splice_Site_p.W78_splice|FNTA_uc003xpv.3_Splice_Site	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	169					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGGGCTTTAGGCATCATAGGC	0.368												
PXDNL	137902	broad.mit.edu	37	8	52339264	52339264	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:52339264T>G	uc003xqu.4	-	12	1681	c.1580A>C	c.(1579-1581)aAt>aCt	p.N527T		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	527	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATGTTTATATTCTTTCCAAC	0.338												
UBXN2B	137886	broad.mit.edu	37	8	59345800	59345800	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:59345800G>T	uc003xtl.3	+	3	543	c.421G>T	c.(421-423)Gat>Tat	p.D141Y		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	Homo sapiens UBX domain protein 2B (UBXN2B), mRNA.	141	SEP.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TCAGCTGCAAGATGTAGGTAC	0.284												
LRRCC1	85444	broad.mit.edu	37	8	86047170	86047170	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:86047170C>T	uc003ycw.3	+	12	2265	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	LRRCC1_uc022awx.1_Missense_Mutation_p.S593F|LRRCC1_uc010maa.2_Missense_Mutation_p.S387F|LRRCC1_uc003ycy.3_Missense_Mutation_p.S666F	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	686					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AATGAGTCTTCCTCTTTAATT	0.333												
GRHL2	79977	broad.mit.edu	37	8	102649132	102649132	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:102649132A>G	uc010mbu.3	+	11	1823	c.1493A>G	c.(1492-1494)tAc>tGc	p.Y498C		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	498						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CAGGTGTATTACAACACGGAT	0.408												
PLEC	5339	broad.mit.edu	37	8	144996426	144996426	+	Silent	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:144996426C>T	uc003zaf.1	-	31	8144	c.7974G>A	c.(7972-7974)caG>caA	p.Q2658Q	PLEC_uc003zab.1_Silent_p.Q2521Q|PLEC_uc003zac.1_Silent_p.Q2525Q|PLEC_uc003zad.2_Silent_p.Q2521Q|PLEC_uc003zae.1_Silent_p.Q2489Q|PLEC_uc003zag.1_Silent_p.Q2499Q|PLEC_uc003zah.2_Silent_p.Q2507Q|PLEC_uc003zaj.2_Silent_p.Q2548Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2658	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACCTCGTCCTGGAAGAGCT	0.642												
FOXD4L5	653427	broad.mit.edu	37	9	70177706	70177706	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr9:70177706G>A	uc010moc.3	-	0	1110	c.278C>T	c.(277-279)cCg>cTg	p.P93L		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	93					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P93P(1)		endometrium(5)|lung(2)	7						AGACCTTGGCGGTGCCCTGAA	0.682												
EIF2S3	1968	broad.mit.edu	37	X	24075581	24075581	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chrX:24075581A>T	uc004dbc.3	+	2	198	c.177A>T	c.(175-177)aaA>aaT	p.K59N		NM_001415	NP_001406	P41091	IF2G_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.	59						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						CAGTCGTCAAAGCTATTTCTG	0.328												
