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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MXRA5	25878	broad.mit.edu	37	X	3228915	3228915	+	Silent	SNP	G	A	A	rs41310268		TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chrX:3228915G>A	uc004crg.4	-	6	7486	c.7329C>T	c.(7327-7329)aaC>aaT	p.N2443N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2443	Ig-like C2-type 9.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGGGTTACCGTTGATCTTGG	0.587000														5			17		0	0	1.64113e-05	0	0
UNC45A	55898	broad.mit.edu	37	15	91485678	91485679	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr15:91485678_91485679CC>AA	uc002bqg.3	+	6	1039_1040	c.699_700CC>AA	c.(697-702)accctg>acAAtg	p.L234M	UNC45A_uc002bqd.3_Missense_Mutation_p.L219M|UNC45A_uc010uqo.1_Missense_Mutation_p.L226M|UNC45A_uc010uqp.1_Non-coding_Transcript|UNC45A_uc010uqq.1_Missense_Mutation_p.L234M	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	234					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAGTGGCAACCCTGAGCATACT	0.564000														428			9		0	0	6.4e-05	0	0
BROX	148362	broad.mit.edu	37	1	222903487	222903488	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr1:222903487_222903488CC>AA	uc001hnq.1	+	10	1352_1353	c.957_958CC>AA	c.(955-960)acccta>acAAta	p.L320I	BROX_uc010put.1_Missense_Mutation_p.L288I|BROX_uc010puu.1_Missense_Mutation_p.L320I|BROX_uc010puv.1_Missense_Mutation_p.L288I|AK094916_uc001hnr.1_Splice_Site|AK025140_uc001hns.1_5'Flank	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Homo sapiens BRO1 domain and CAAX motif containing (BROX), mRNA.	320	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TGAAGAACACCCTAGAAAAATG	0.307000														237			9		0	0	6.4e-05	0	0
DIO3	1735	broad.mit.edu	37	14	102028063	102028063	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr14:102028063G>T	uc021sdx.1	+	0	376	c.230G>T	c.(229-231)cGg>cTg	p.R77L	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	51					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CGCCGCCGCCGGGGGCAGCCC	0.657000														49			16		4.7546e-09	3.27194e-07	3.45872e-05	1	0
SLITRK3	22865	broad.mit.edu	37	3	164907292	164907292	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr3:164907292G>A	uc003fej.4	-	1	1771	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	SLITRK3_uc003fek.3_Missense_Mutation_p.R443C|SLITRK3_uc021xgy.1_Missense_Mutation_p.R443C	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	443						integral to membrane		p.R443S(2)		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						TAGGAAATACGATTGTTCCCC	0.408000										HNSCC(40;0.11)				5			22		0	0	4.16121e-05	0	0
LYG1	129530	broad.mit.edu	37	2	99909082	99909082	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr2:99909082C>A	uc010yvo.2	-	4	395	c.65G>T	c.(64-66)tGg>tTg	p.W22L	MRPL30_uc002szl.1_Intron|LYG1_uc002szy.3_Missense_Mutation_p.W22L	NM_174898	NP_777558	Q8N1E2	LYG1_HUMAN	Homo sapiens lysozyme G-like 1 (LYG1), mRNA.	22					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						ATAGCATCCCCAGTTGCTGCT	0.448000														25			24		1.10923e-09	7.95814e-08	4.16121e-05	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					46			32		0	0	7.24521e-05	0	0
FCHSD2	9873	broad.mit.edu	37	11	72553733	72553734	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr11:72553733_72553734GG>TT	uc009ytl.3	-	16	2079_2080	c.1858_1859CC>AA	c.(1858-1860)cca>AAa	p.P620K	FCHSD2_uc010rrg.2_Missense_Mutation_p.P484K|FCHSD2_uc001oth.4_Missense_Mutation_p.P564K|ATG16L2_uc009ytj.2_3'UTR	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	620	SH3 2.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TAGCACCGATGGGAAAACTCCA	0.441000														633			10		0	0	6.4e-05	0	0
OR1J4	26219	broad.mit.edu	37	9	125281593	125281593	+	Silent	SNP	C	A	A			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr9:125281593C>A	uc011lyw.2	+	0	174	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TTCACACCCCCATGTTCTTCT	0.507000														106			46		1.32667e-27	9.94118e-26	0.000147903	1	0
SRRM2	23524	broad.mit.edu	37	16	2814690	2814691	+	Missense_Mutation	DNP	CC	AA	AA	rs78949014	byFrequency	TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr16:2814690_2814691CC>AA	uc002crk.3	+	10	4710_4711	c.4161_4162CC>AA	c.(4159-4164)tcccca>tcAAca	p.P1388T	SRRM2_uc002crj.1_Missense_Mutation_p.P1292T|SRRM2_uc002crl.1_Missense_Mutation_p.P1388T|SRRM2_uc010bsu.1_Missense_Mutation_p.P1292T	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1388	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding	p.P1388T(2)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTGAGTTATCCCCAGATGCAGT	0.450000														284			8		0	0	6.4e-05	0	0
FARS2	10667	broad.mit.edu	37	6	5771581	5771581	+	Silent	SNP	G	T	T			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr6:5771581G>T	uc010jnv.1	+	6	1611	c.1275G>T	c.(1273-1275)ctG>ctT	p.L425L	FARS2_uc003mwr.2_Silent_p.L425L	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	425	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AACGGACTCTGTCCCAGAGAG	0.582000														58			48		1.30409e-13	9.55955e-12	0.000147903	1	0
ECM2	1842	broad.mit.edu	37	9	95279998	95279998	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr9:95279998C>T	uc011lty.2	-	2	639	c.452G>A	c.(451-453)gGg>gAg	p.G151E	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.G151E|ECM2_uc004asg.3_Missense_Mutation_p.G151E|ECM2_uc011ltz.1_Missense_Mutation_p.G151E|ECM2_uc004asi.3_Missense_Mutation_p.G151E	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	151	VWFC.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GCAGCATTCCCCTTCAGGTAT	0.463000														88			101		0	0	0.000147903	0	0
MOCS1	4337	broad.mit.edu	37	6	39874786	39874786	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr6:39874786C>T	uc003opb.3	-	9	1396	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M	MOCS1_uc003opa.3_3'UTR|MOCS1_uc003opd.3_3'UTR|MOCS1_uc003ope.3_Missense_Mutation_p.V317M	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	420	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					AAAGTGGCCACCTGGCTGGAG	0.567000														73			19		0	0	0.000132079	0	0
KCNIP4	80333	broad.mit.edu	37	4	20736327	20736328	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr4:20736327_20736328CG>AT	uc021xmt.1	-	5	580_581	c.460_461CG>AT	c.(460-462)cgg>ATg	p.R154M	KCNIP4_uc003gqe.2_Missense_Mutation_p.R137M|KCNIP4_uc003gqf.1_Missense_Mutation_p.R133M|KCNIP4_uc003gqg.1_Missense_Mutation_p.R92M|KCNIP4_uc003gqh.1_Missense_Mutation_p.R129M|KCNIP4_uc003gqi.1_Missense_Mutation_p.R92M|KCNIP4_uc021xmu.1_Missense_Mutation_p.R120M|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.R117M	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	154	EF-hand 2.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TACTGTCCCCCGGAGCAAAATG	0.312000														227			6		0	0	6.4e-05	0	0
OCEL1	79629	broad.mit.edu	37	19	17337903	17337903	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr19:17337903T>C	uc002nfp.3	+	2	349	c.347T>C	c.(346-348)tTt>tCt	p.F116S		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	Homo sapiens occludin/ELL domain containing 1 (OCEL1), mRNA.	116										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AAGATTGTGTTTGAGGATGAG	0.642000														62			52		0	0	0.000147903	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548661	102548662	+	Missense_Mutation	DNP	CC	AA	AA	rs11547532		TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr14:102548661_102548662CC>AA	uc001yku.4	-	9	2065_2066	c.1875_1876GG>TT	c.(1873-1878)atgggt>atTTgt	p.625_626MG>IC	HSP90AA1_uc001ykv.4_Missense_Mutation_p.747_748MG>IC	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	625					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GCCATGTAACCCATTGTTGAGT	0.446000														247			7		0	0	6.4e-05	0	0
PSD2	84249	broad.mit.edu	37	5	139219689	139219689	+	Silent	SNP	C	T	T			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr5:139219689C>T	uc003leu.1	+	13	2251	c.2046C>T	c.(2044-2046)gtC>gtT	p.V682V		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	682					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACCCAGTCGAGAGGGGCA	0.567000														50			21		0	0	2.27731e-05	0	0
MARCH9	92979	broad.mit.edu	37	12	58151945	58151945	+	Silent	SNP	C	T	T			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr12:58151945C>T	uc001spx.2	+	2	999	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	MARCH9_uc001spy.3_Silent_p.L77L	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	190						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TGCCATAGTTCTGGGCTCGCT	0.567000														38			17		0	0	5.01169e-05	0	0
RRBP1	6238	broad.mit.edu	37	20	17595518	17595518	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr20:17595518A>T	uc002wpw.1	-	23	3036	c.2759T>A	c.(2758-2760)cTa>cAa	p.L920Q	RRBP1_uc010zrp.1_Missense_Mutation_p.L93Q|RRBP1_uc002wpt.1_Missense_Mutation_p.L290Q|RRBP1_uc002wpu.3_Missense_Mutation_p.L694Q|RRBP1_uc010gcl.1_Missense_Mutation_p.L694Q|RRBP1_uc002wpv.1_Missense_Mutation_p.L920Q	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	1353					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						CTCTTTTTCTAGTCTCTCCTG	0.612000														77			18		0	0	4.16121e-05	0	0
NCAPD2	9918	broad.mit.edu	37	12	6619925	6619925	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr12:6619925T>G	uc001qoo.2	+	4	439	c.393T>G	c.(391-393)ttT>ttG	p.F131L	NCAPD2_uc009zen.1_Intron|NCAPD2_uc010sfd.1_Missense_Mutation_p.F86L	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	131	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TGGAATCCTTTGAGACCATGG	0.478000														119			39		0	0	0.000147903	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15116176	15116176	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr3:15116176G>A	uc003bzm.1	-	13	2082	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	ZFYVE20_uc010hek.1_Missense_Mutation_p.R490W	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	490	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGCAGCTGCCGCAGGTTCTCC	0.622000														125			56		0	0	0.000147903	0	0
FAT3	120114	broad.mit.edu	37	11	92086378	92086379	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr11:92086378_92086379CC>AA	uc001pdj.4	+	0	1117_1118	c.1100_1101CC>AA	c.(1099-1101)ccc>cAA	p.P367Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	367	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTGGCAACCCCACAAGAGACA	0.421000										TCGA Ovarian(4;0.039)				505			13		0	0	6.4e-05	0	0
BLM	641	broad.mit.edu	37	15	91308573	91308574	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr15:91308573_91308574GG>TT	uc002bpr.3	+	8	2219_2220	c.2122_2123GG>TT	c.(2122-2124)ggg>TTg	p.G708L	BLM_uc010uqh.2_Missense_Mutation_p.G708L|BLM_uc010uqi.2_Missense_Mutation_p.G333L|BLM_uc010bnx.3_Missense_Mutation_p.G708L	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	708	Helicase ATP-binding.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGTTTCTCCTGGGGTCACTGTT	0.401000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					611			9		0	0	6.4e-05	0	0
BPIFA3	128861	broad.mit.edu	37	20	31811717	31811717	+	Silent	SNP	G	T	T			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr20:31811717G>T	uc002wyr.3	+	1	436	c.228G>T	c.(226-228)ctG>ctT	p.L76L	BPIFA3_uc002wys.3_Silent_p.L76L	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.	76						extracellular region	lipid binding										CCCCAGGGCTGGTGGGCTGGC	0.537000														59			17		1.15088e-07	7.76152e-06	3.45872e-05	1	0
LRP6	4040	broad.mit.edu	37	12	12303861	12303862	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr12:12303861_12303862CG>AT	uc001rah.4	-	12	3044_3045	c.2902_2903CG>AT	c.(2902-2904)cgg>ATg	p.R968M	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R968M	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	968	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity	p.R968L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTCAATGGCCCGGACATTCCGA	0.490000														621			13		0	0	6.4e-05	0	0
CRHBP	1393	broad.mit.edu	37	5	76254687	76254688	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr5:76254687_76254688GG>TT	uc003ker.3	+	4	946_947	c.666_667GG>TT	c.(664-669)ctggga>ctTTga	p.G223*	CRHBP_uc010izx.3_Nonsense_Mutation_p.G223*	NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	223					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		ATCTTACCCTGGGACACGTAAA	0.416000														445			11		0	0	6.4e-05	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825823	146825823	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr7:146825823C>G	uc003weu.2	+	6	1494	c.978C>G	c.(976-978)agC>agG	p.S326R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	326	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCAAGCCCAGCTCCAGCAGTA	0.398000										HNSCC(39;0.1)				125			26		0	0	7.16444e-05	0	0
OR4N5	390437	broad.mit.edu	37	14	20612115	20612115	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr14:20612115C>T	uc010tla.2	+	0	221	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCATCCTACTCCTTCATTGTG	0.458000														146			109		0	0	0.000147903	0	0
HPS5	11234	broad.mit.edu	37	11	18332943	18332943	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr11:18332943A>G	uc001mod.1	-	3	553	c.275T>C	c.(274-276)gTa>gCa	p.V92A	HPS5_uc001moe.1_5'UTR|HPS5_uc001mof.1_5'UTR	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	92						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTGGTAGCTACAGCAACATA	0.353000									Hermansky-Pudlak syndrome					48			11		0	0	6.40141e-05	0	0
UBA3	9039	broad.mit.edu	37	3	69126959	69126959	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr3:69126959G>A	uc003dno.3	-	2	193	c.173C>T	c.(172-174)cCg>cTg	p.P58L	UBA3_uc003dnq.3_Missense_Mutation_p.P44L|UBA3_uc011bfy.2_5'UTR|UBA3_uc011bfz.2_5'UTR	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	58	Interaction with UBE2M N-terminus.				protein neddylation|proteolysis	nucleus	ATP binding|acid-amino acid ligase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TTCAGTGCTCGGTTCGAAATC	0.413000														455			19		0	0	2.27731e-05	0	0
CCNE2	9134	broad.mit.edu	37	8	95893938	95893939	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr8:95893938_95893939CC>AA	uc003yhc.3	-	11	1240_1241	c.1136_1137GG>TT	c.(1135-1137)ggg>gTT	p.G379V		NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	379					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					ACAACTGTCCCCCTTTTCTGAA	0.401000														681			13		0	0	6.4e-05	0	0
BLK	640	broad.mit.edu	37	8	11400840	11400840	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr8:11400840C>T	uc003wty.3	+	1	688	c.107C>T	c.(106-108)cCg>cTg	p.P36L		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	36					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AAGGACGCCCCGCCACTGCCG	0.532000														24			14		0	0	3.45872e-05	0	0
DSCAML1	57453	broad.mit.edu	37	11	117329513	117329513	+	Silent	SNP	G	A	A			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr11:117329513G>A	uc001prh.1	-	18	3707	c.3705C>T	c.(3703-3705)gaC>gaT	p.D1235D		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1175	Fibronectin type-III 4.				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)		TGCGTACGCCGTCCCCAGCCT	0.642000														13			7		0	0	8.12818e-05	0	0
CDR1	1038	broad.mit.edu	37	X	139866322	139866322	+	Silent	SNP	C	T	T			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chrX:139866322C>T	uc004fbg.1	-	0	402	c.210G>A	c.(208-210)tcG>tcA	p.S70S	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	70	23 X 6 AA approximate repeats.							p.S70S(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCATAGCTTCCGAAAAATCCA	0.458000														13			62		0	0	0.000147903	0	0
SLC35B2	347734	broad.mit.edu	37	6	44224482	44224482	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr6:44224482A>C	uc003oxd.3	-	1	281	c.145T>G	c.(145-147)Ttt>Gtt	p.F49V	SLC35B2_uc011dvt.2_Silent_p.A3A|SLC35B2_uc011dvu.2_Intron|SLC35B2_uc021yzy.1_5'Flank	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Homo sapiens solute carrier family 35, member B2 (SLC35B2), mRNA.	49					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGTACCATAAAGCTGGCATAG	0.582000														97			73		0	0	0.000147903	0	0
BEX2	84707	broad.mit.edu	37	X	102564760	102564760	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chrX:102564760G>A	uc004eka.3	-	2	599	c.241C>T	c.(241-243)Cct>Tct	p.P81S	BEX2_uc022cbn.1_Missense_Mutation_p.P80S|BEX2_uc022cbo.1_Missense_Mutation_p.P49S|BEX2_uc004ekb.3_Missense_Mutation_p.P49S|BEX2_uc022cbp.1_Missense_Mutation_p.P49S	NM_001168399	NP_116010	Q9BXY8	BEX2_HUMAN	Homo sapiens brain expressed X-linked 2 (BEX2), transcript variant 1, mRNA.	49					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						TTTCCTCTAGGCACACAGTAT	0.473000														38			13		0	0	0.00010058	0	0
CIITA	4261	broad.mit.edu	37	16	11000359	11000359	+	Missense_Mutation	SNP	C	T	T	rs147670132		TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr16:11000359C>T	uc002daj.4	+	10	1146	c.1013C>T	c.(1012-1014)cCg>cTg	p.P338L	CIITA_uc002dai.4_Missense_Mutation_p.P337L|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.P337L|CIITA_uc002dah.2_Missense_Mutation_p.P289L|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	337					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TTTGCAGAGCCGGTGGAGCAG	0.642000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									21			12		0	0	0.000151284	0	0
VPS13D	55187	broad.mit.edu	37	1	12520332	12520332	+	Silent	SNP	C	T	T			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr1:12520332C>T	uc001atv.3	+	66	12684	c.12543C>T	c.(12541-12543)ttC>ttT	p.F4181F	VPS13D_uc001atw.3_Silent_p.F4156F|VPS13D_uc001atx.3_Silent_p.F3368F|VPS13D_uc009vnl.3_Non-coding_Transcript|VPS13D_uc010obd.2_Silent_p.F179F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	4180					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)		TCAGCGGTTTCATATCTGGCC	0.507000														9			46		0	0	0.000147903	0	0
ZNF219	51222	broad.mit.edu	37	14	21559287	21559287	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr14:21559287T>C	uc001vzr.2	-	4	1998	c.1577A>G	c.(1576-1578)tAc>tGc	p.Y526C	ZNF219_uc001vzs.2_Missense_Mutation_p.Y526C|ZNF219_uc010aik.1_Missense_Mutation_p.Y526C	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	Homo sapiens zinc finger protein 219 (ZNF219), transcript variant 1, mRNA.	526					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGGACACTTGTAGGGCCGCTC	0.657000														11			5		0	0	3.59834e-05	0	0
IBA57	200205	broad.mit.edu	37	1	228362441	228362441	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr1:228362441C>A	uc001hsl.4	+	1	479	c.390C>A	c.(388-390)agC>agA	p.S130R	IBA57_uc010pvw.2_5'UTR	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA.	130					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	p.S130R(4)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						AGTGTGACAGCTCGGTGCAGG	0.662000														21			6		2.0095e-06	0.000132863	8.12818e-05	1	0
C4BPA	722	broad.mit.edu	37	1	207304923	207304923	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr1:207304923G>A	uc001hfo.3	+	7	1116	c.922G>A	c.(922-924)Gct>Act	p.A308T		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	308	Sushi 5.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CATTCCACATGCTTCCTGGGA	0.428000														27			22		0	0	0.000117367	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2908679	2908680	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr17:2908679_2908680GG>TT	uc010ckd.3	+	14	1307_1308	c.1217_1218GG>TT	c.(1216-1218)cgg>cTT	p.R406L	RAP1GAP2_uc010cke.3_Missense_Mutation_p.R391L	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	406	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	p.R406>?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GTCACTGCGCGGGAAGATGTGC	0.594000														198			8		0	0	6.4e-05	0	0
DPYD	1806	broad.mit.edu	37	1	98058935	98058935	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr1:98058935C>T	uc001drv.3	-	9	1104	c.967G>A	c.(967-969)Gcc>Acc	p.A323T		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	323					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.A323P(2)|p.A323D(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GAGTGACAGGCGCACATTCCT	0.453000														27			13		0	0	1.49906e-05	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	C	C	rs143761036	by1000genomes	TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr20:29625875T>C	uc010ztl.1	+	1	61	c.29T>C	c.(28-30)aTc>aCc	p.I10T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I40T(4)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000														99			5		0	0	8.12818e-05	0	0
DLEC1	9940	broad.mit.edu	37	3	38127768	38127769	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr3:38127768_38127769GG>TT	uc003chp.1	+	8	1493_1494	c.1472_1473GG>TT	c.(1471-1473)ggg>gTT	p.G491V	DLEC1_uc003cho.1_Missense_Mutation_p.G491V|DLEC1_uc010hgv.1_Missense_Mutation_p.G491V|DLEC1_uc010hgw.1_Missense_Mutation_p.G132V|DLEC1_uc003chq.1_Intron	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	491					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGCCTCATTGGGGGAGTCAAGA	0.480000														379			11		0	0	6.4e-05	0	0
BACE2	25825	broad.mit.edu	37	21	42540500	42540500	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr21:42540500A>C	uc002yyw.3	+	0	773	c.310A>C	c.(310-312)Aag>Cag	p.K104Q	BACE2_uc002yyx.3_Missense_Mutation_p.K104Q|BACE2_uc002yyy.3_Missense_Mutation_p.K104Q	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	104					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CCCCCCGCAGAAGGTAGGGAC	0.697000														3			5		0	0	3.59834e-05	0	0
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	T	T			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr12:122812709C>T	uc001ucg.2	-	17	3189	c.3034_splice	c.e17-1	p.E1012_splice	CLIP1_uc001uch.1_Splice_Site_p.E1001_splice|CLIP1_uc001uci.1_Splice_Site_p.E966_splice|CLIP1_uc001ucj.1_Splice_Site_p.E587_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1012					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.E1001K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493000														80			16		0	0	3.10358e-05	0	0
MAMDC4	158056	broad.mit.edu	37	9	139751928	139751929	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr9:139751928_139751929insA	uc004cjs.3	+	17	2266_2267	c.2216_2217insA	c.(2215-2217)tcafs	p.S739fs	MAMDC4_uc011mej.2_Frame_Shift_Ins_p.S76fs	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	818	MAM 4.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TTTGAGGACTCAGACTGCGGCT	0.673													---	52	---	---	11	---					
FBRS	64319	broad.mit.edu	37	16	30680211	30680212	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EB-A24C-01A-11D-A197-08	TCGA-EB-A24C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a07df10-1d29-4cbf-8ea7-e07bf1ba2a03	1dad4c6e-95b8-41c8-ae4f-5a3bf31f1b99	g.chr16:30680211_30680212insC	uc002dzd.4	+	10	980_981	c.717_718insC	c.(715-720)cggcccfs	p.R239fs	FBRS_uc002dzc.4_Frame_Shift_Ins_p.R151fs	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	239										ovary(1)	1			Colorectal(24;0.103)			CCTGGGTCCGGCCCCCTGAGGC	0.693													---	8	---	---	10	---					
