Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DSCAML1	57453	broad.mit.edu	37	11	117329513	117329513	+	Silent	SNP	G	G	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	ENST00000321322.6	-	19	3706	c.3705C>T	c.(3703-3705)gaC>gaT	p.D1235D	DSCAML1_ENST00000527706.1_Silent_p.D965D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	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													7	13					0	0	8.12818e-05	0	0
BPIFA3	128861	broad.mit.edu	37	20	31811717	31811717	+	Silent	SNP	G	G	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	ENST00000375454.3	+	2	438	c.228G>T	c.(226-228)ctG>ctT	p.L76L	BPIFA3_ENST00000375452.3_Silent_p.L76L|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	76						extracellular region	lipid binding										CCCCAGGGCTGGTGGGCTGGC	0.537000													17	59					1.15088e-07	1.1193e-05	3.45872e-05	1	0
OR1J4	26219	broad.mit.edu	37	9	125281593	125281593	+	Silent	SNP	C	C	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	ENST00000340750.1	+	1	174	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	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													46	106					1.32667e-27	1.48002e-25	0.000147903	1	0
INTS8	55656	broad.mit.edu	37	8	95869153	95869153	+	Missense_Mutation	SNP	C	C	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.chr8:95869153C>A	ENST00000523731.1	+	15	2034	c.1901C>A	c.(1900-1902)cCg>cAg	p.P634Q	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.P634Q	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	634					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GGAGAGAGACCGCCATCCGAC	0.468000													11	871					6.40141e-05	0.00592209	6.40141e-05	1	0
PSD2	84249	broad.mit.edu	37	5	139219689	139219689	+	Silent	SNP	C	C	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	ENST00000274710.3	+	14	2251	c.2046C>T	c.(2044-2046)gtC>gtT	p.V682V		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	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													21	50					0	0	2.27731e-05	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15116176	15116176	+	Missense_Mutation	SNP	G	G	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	ENST00000253699.3	-	14	2081	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R490W	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	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													56	125					0	0	0.000147903	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	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.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	84					0	0	1.23904e-05	0	0
LYG1	129530	broad.mit.edu	37	2	99909082	99909082	+	Missense_Mutation	SNP	C	C	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	ENST00000409448.1	-	5	381	c.65G>T	c.(64-66)tGg>tTg	p.W22L	LYG1_ENST00000308528.4_Missense_Mutation_p.W22L			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	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													24	25					1.10923e-09	1.1687e-07	4.16121e-05	1	0
MXRA5	25878	broad.mit.edu	37	X	3228915	3228915	+	Silent	SNP	G	G	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	ENST00000217939.6	-	7	7483	c.7329C>T	c.(7327-7329)aaC>aaT	p.N2443N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	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													17	5					0	0	1.64113e-05	0	0
OR4N5	390437	broad.mit.edu	37	14	20612115	20612115	+	Missense_Mutation	SNP	C	C	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	ENST00000333629.1	+	1	221	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	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													109	146					0	0	0.000147903	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	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.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													5	44					0	0	8.12818e-05	0	0
SLC35B2	347734	broad.mit.edu	37	6	44224482	44224482	+	Missense_Mutation	SNP	A	A	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	ENST00000393812.3	-	2	288	c.145T>G	c.(145-147)Ttt>Gtt	p.F49V	SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_Silent_p.A7A|SLC35B2_ENST00000393810.1_Missense_Mutation_p.F49V|SLC35B2_ENST00000537814.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	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													73	97					0	0	0.000147903	0	0
CDR1	1038	broad.mit.edu	37	X	139866322	139866322	+	Silent	SNP	C	C	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	ENST00000370532.2	-	1	401	c.210G>A	c.(208-210)tcG>tcA	p.S70S		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	70	23 X 6 AA approximate repeats.							p.S70S(1)		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													62	13					0	0	0.000147903	0	0
BEX2	84707	broad.mit.edu	37	X	102564760	102564760	+	Missense_Mutation	SNP	G	G	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	ENST00000536889.1	-	3	598	c.241C>T	c.(241-243)Cct>Tct	p.P81S	BEX2_ENST00000372677.3_Missense_Mutation_p.P49S|BEX2_ENST00000372674.1_Missense_Mutation_p.P49S	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	49					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						TTTCCTCTAGGCACACAGTAT	0.473000													13	38					0	0	0.00010058	0	0
NCAPD2	9918	broad.mit.edu	37	12	6619925	6619925	+	Missense_Mutation	SNP	T	T	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	ENST00000315579.5	+	5	1192	c.393T>G	c.(391-393)ttT>ttG	p.F131L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.F86L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	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													39	119					0	0	0.000147903	0	0
UBA3	9039	broad.mit.edu	37	3	69126959	69126959	+	Missense_Mutation	SNP	G	G	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	ENST00000361055.4	-	3	227	c.173C>T	c.(172-174)cCg>cTg	p.P58L	UBA3_ENST00000349511.4_Missense_Mutation_p.P44L|UBA3_ENST00000540295.1_5'UTR|UBA3_ENST00000415609.2_Missense_Mutation_p.P44L	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	58	Interaction with UBE2M N-terminus.				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|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													19	455					0	0	2.27731e-05	0	0
ZNF219	51222	broad.mit.edu	37	14	21559287	21559287	+	Missense_Mutation	SNP	T	T	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	ENST00000360947.3	-	5	1988	c.1577A>G	c.(1576-1578)tAc>tGc	p.Y526C	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.Y526C|ZNF219_ENST00000451119.2_Missense_Mutation_p.Y526C	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	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													5	11					0	0	3.59834e-05	0	0
IBA57	200205	broad.mit.edu	37	1	228362441	228362441	+	Missense_Mutation	SNP	C	C	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	ENST00000366711.3	+	2	392	c.390C>A	c.(388-390)agC>agA	p.S130R	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_5'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	130					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	p.S130R(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						AGTGTGACAGCTCGGTGCAGG	0.662000													6	21					2.0095e-06	0.000190551	8.12818e-05	1	0
C17orf97	400566	broad.mit.edu	37	17	263666	263666	+	Silent	SNP	C	C	T	rs111388956		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.chr17:263666C>T	ENST00000360127.6	+	2	1048	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	374	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G344G(2)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCTCAAGGGCTTCCACCCCG	0.687000													5	54					0	0	8.12818e-05	0	0
ECM2	1842	broad.mit.edu	37	9	95279998	95279998	+	Missense_Mutation	SNP	C	C	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	ENST00000344604.5	-	3	601	c.452G>A	c.(451-453)gGg>gAg	p.G151E	ECM2_ENST00000444490.2_Missense_Mutation_p.G151E|ECM2_ENST00000375540.1_Missense_Mutation_p.G151E|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	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													101	88					0	0	0.000147903	0	0
FARS2	10667	broad.mit.edu	37	6	5771581	5771581	+	Silent	SNP	G	G	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	ENST00000324331.6	+	7	1611	c.1275G>T	c.(1273-1275)ctG>ctT	p.L425L	FARS2_ENST00000274680.4_Silent_p.L425L			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	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													48	58					1.30409e-13	1.41326e-11	0.000147903	1	0
RRBP1	6238	broad.mit.edu	37	20	17595518	17595518	+	Missense_Mutation	SNP	A	A	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	ENST00000377813.1	-	24	4361	c.4058T>A	c.(4057-4059)cTa>cAa	p.L1353Q	RRBP1_ENST00000246043.4_Missense_Mutation_p.L1353Q|RRBP1_ENST00000468428.1_5'UTR|RRBP1_ENST00000455029.2_Missense_Mutation_p.L694Q|RRBP1_ENST00000377807.2_Missense_Mutation_p.L920Q|RRBP1_ENST00000360807.4_Missense_Mutation_p.L920Q			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	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													18	77					0	0	4.16121e-05	0	0
HPS5	11234	broad.mit.edu	37	11	18332943	18332943	+	Missense_Mutation	SNP	A	A	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	ENST00000349215.3	-	4	552	c.275T>C	c.(274-276)gTa>gCa	p.V92A	HPS5_ENST00000438420.2_5'UTR|HPS5_ENST00000531848.1_5'UTR|HPS5_ENST00000396253.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	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				11	48					0	0	6.40141e-05	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907292	164907292	+	Missense_Mutation	SNP	G	G	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	ENST00000475390.1	-	2	1770	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R443C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	443						integral to membrane		p.R443S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TAGGAAATACGATTGTTCCCC	0.408000										HNSCC(40;0.11)			22	5					0	0	4.16121e-05	0	0
DPYD	1806	broad.mit.edu	37	1	98058935	98058935	+	Missense_Mutation	SNP	C	C	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	ENST00000370192.3	-	10	1067	c.967G>A	c.(967-969)Gcc>Acc	p.A323T		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	323					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.A323P(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													13	27					0	0	1.49906e-05	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	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	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													5	99					0	0	8.12818e-05	0	0
IL6	3569	broad.mit.edu	37	7	22766992	22766992	+	Silent	SNP	C	C	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.chr7:22766992C>T	ENST00000420258.2	+	1	174	c.111C>T	c.(109-111)ggC>ggT	p.G37G	IL6_ENST00000401630.3_Intron|IL6_ENST00000258743.5_Intron|IL6_ENST00000407492.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000401651.1_Intron|IL6_ENST00000404625.1_Intron|IL6_ENST00000406575.1_Intron			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	0					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	GGCTGGCGGGCGGCCAGCAGC	0.677000											OREG0017891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	13					0	0	8.12818e-05	0	0
LOC728323	728323	broad.mit.edu	37	2	243037115	243037115	+	RNA	SNP	A	A	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.chr2:243037115A>G	ENST00000456398.1	+	0	247																											GGCTGGAAGAATTGTGAATCT	0.398000													4	74					0	0	3.59834e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	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	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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				32	46					0	0	7.24521e-05	0	0
CIITA	4261	broad.mit.edu	37	16	11000359	11000359	+	Missense_Mutation	SNP	C	C	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	ENST00000324288.8	+	11	1143	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	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	activating transcription factor binding|ATP 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, """								12	21					0	0	0.000151284	0	0
MARCH9	92979	broad.mit.edu	37	12	58151945	58151945	+	Silent	SNP	C	C	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	ENST00000266643.5	+	3	999	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	MARCH9_ENST00000548358.1_Silent_p.L77L	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	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													17	38					0	0	5.01169e-05	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825823	146825823	+	Missense_Mutation	SNP	C	C	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	ENST00000361727.3	+	7	1494	c.978C>G	c.(976-978)agC>agG	p.S326R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	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)			26	125					0	0	7.16444e-05	0	0
C4BPA	722	broad.mit.edu	37	1	207304923	207304923	+	Missense_Mutation	SNP	G	G	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	ENST00000367070.3	+	8	1116	c.922G>A	c.(922-924)Gct>Act	p.A308T		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	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													22	27					0	0	0.000117367	0	0
BLK	640	broad.mit.edu	37	8	11400840	11400840	+	Missense_Mutation	SNP	C	C	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	ENST00000259089.4	+	2	699	c.107C>T	c.(106-108)cCg>cTg	p.P36L	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	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													14	24					0	0	3.45872e-05	0	0
DIO3	1735	broad.mit.edu	37	14	102028063	102028063	+	Missense_Mutation	SNP	G	G	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	ENST00000510508.4	+	1	376	c.230G>T	c.(229-231)cGg>cTg	p.R77L	DIO3_ENST00000359323.3_Missense_Mutation_p.R51L			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	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													16	49					4.7546e-09	4.74585e-07	3.45872e-05	1	0
BACE2	25825	broad.mit.edu	37	21	42540500	42540500	+	Missense_Mutation	SNP	A	A	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	ENST00000330333.6	+	1	773	c.310A>C	c.(310-312)Aag>Cag	p.K104Q	BACE2_ENST00000328735.6_Missense_Mutation_p.K104Q|BACE2_ENST00000347667.4_Missense_Mutation_p.K104Q	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	104					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|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													5	3					0	0	3.59834e-05	0	0
OCEL1	79629	broad.mit.edu	37	19	17337903	17337903	+	Missense_Mutation	SNP	T	T	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	ENST00000215061.4	+	3	391	c.347T>C	c.(346-348)tTt>tCt	p.F116S	OCEL1_ENST00000597836.1_Missense_Mutation_p.F60S|OCEL1_ENST00000601529.1_Missense_Mutation_p.F116S|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	116										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AAGATTGTGTTTGAGGATGAG	0.642000													52	62					0	0	0.000147903	0	0
VPS13D	55187	broad.mit.edu	37	1	12520332	12520332	+	Silent	SNP	C	C	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	ENST00000358136.3	+	67	12673	c.12543C>T	c.(12541-12543)ttC>ttT	p.F4181F	VPS13D_ENST00000356315.4_Silent_p.F4156F|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Silent_p.F179F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	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													46	9					0	0	0.000147903	0	0
MOCS1	4337	broad.mit.edu	37	6	39874786	39874786	+	Missense_Mutation	SNP	C	C	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	ENST00000308559.7	-	10	1343	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M	MOCS1_ENST00000340692.5_Missense_Mutation_p.V420M|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373195.3_Missense_Mutation_p.V317M|MOCS1_ENST00000425303.2_Missense_Mutation_p.V420M|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373175.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	420					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|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													19	73					0	0	0.000132079	0	0
ANKRD20A12P	100874392	broad.mit.edu	37	1	142716575	142716578	+	RNA	DEL	AAAC	AAAC	-			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.chr1:142716575_142716578delAAAC	ENST00000595144.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422													7	133	---	---	---	---					
MAMDC4	158056	broad.mit.edu	37	9	139751928	139751929	+	Frame_Shift_Ins	INS	-	-	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	ENST00000445819.1	+	20	2503_2504	c.2453_2454insA	c.(2452-2454)tgafs	p.*818fs	MAMDC4_ENST00000317446.2_Frame_Shift_Ins_p.*739fs|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	818	MAM 5.				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													11	52	---	---	---	---					
FBRS	64319	broad.mit.edu	37	16	30680211	30680212	+	Frame_Shift_Ins	INS	-	-	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	ENST00000356166.6	+	17	3365_3366	c.2277_2278insC	c.(2275-2280)cgccccfs	p.RP759fs	FBRS_ENST00000568722.1_Frame_Shift_Ins_p.RP151fs|FBRS_ENST00000287468.5_Frame_Shift_Ins_p.RP239fs|FBRS_ENST00000395073.2_Frame_Shift_Ins_p.RP151fs			Q9HAH7	FBRS_HUMAN	fibrosin	239										ovary(1)	1			Colorectal(24;0.103)			CCTGGGTCCGGCCCCCTGAGGC	0.693													10	8	---	---	---	---