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
TENM1	10178	broad.mit.edu	37	X	123654532	123654532	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:123654532G>T	ENST00000422452.2	-	18	3199	c.3136C>A	c.(3136-3138)Cat>Aat	p.H1046N	TENM1_ENST00000371130.3_Missense_Mutation_p.H1046N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATCGTTGAATGTGTCAGAAGG	0.498000													22	135					9.95505e-16	1.35918e-15	0.002299	1	0
ASTN2	23245	broad.mit.edu	37	9	119977009	119977009	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr9:119977009C>T	ENST00000313400.4	-	3	743	c.643G>A	c.(643-645)Gcg>Acg	p.A215T	ASTN2_ENST00000373996.3_Missense_Mutation_p.A215T|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.A215T			O75129	ASTN2_HUMAN	astrotactin 2	215						integral to membrane		p.A215P(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGCAGCAGCGCGATGAGGCCA	0.612000													10	31					0	0	0.001368	0	0
PCF11	51585	broad.mit.edu	37	11	82868592	82868592	+	Silent	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:82868592C>T	ENST00000298281.4	+	1	563	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	37	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AGCCGCACATCAATATGCTGA	0.597000													6	127					0	0	0.001984	0	0
TTC5	91875	broad.mit.edu	37	14	20766966	20766966	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:20766966T>C	ENST00000258821.3	-	5	685	c.629A>G	c.(628-630)tAt>tGt	p.Y210C		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	210					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TGCTTGGGCATAGGCACTGAG	0.453000													6	45					0	0	0.001984	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245321	137245321	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr6:137245321C>A	ENST00000331858.4	+	2	903	c.738C>A	c.(736-738)tgC>tgA	p.C246*		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	246					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CGCTGCACTGCACCTACATCA	0.627000													5	39					0.00198382	0.00226547	0.001984	1	0
ATP12A	479	broad.mit.edu	37	13	25281307	25281307	+	Silent	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr13:25281307C>T	ENST00000218548.6	+	16	2667	c.2334C>T	c.(2332-2334)tcC>tcT	p.S778S	ATP12A_ENST00000381946.3_Silent_p.S772S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	772					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ACTTCGCATCCATCGTCACAG	0.542000													6	42					0	0	0.001168	0	0
C3AR1	719	broad.mit.edu	37	12	8212099	8212099	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:8212099A>G	ENST00000307637.4	-	2	886	c.683T>C	c.(682-684)gTc>gCc	p.V228A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	228					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGTTGGAAGACAGTGGGGAC	0.408000													9	104					0	0	0.004482	0	0
ASNS	440	broad.mit.edu	37	7	97483918	97483918	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:97483918G>A	ENST00000175506.4	-	11	1740	c.1212C>T	c.(1210-1212)cgC>cgT	p.R404R	ASNS_ENST00000455086.1_Silent_p.R321R|ASNS_ENST00000394308.3_Silent_p.R404R|ASNS_ENST00000394309.3_Silent_p.R404R|ASNS_ENST00000444334.1_Silent_p.R383R|ASNS_ENST00000437628.1_Silent_p.R321R|ASNS_ENST00000422745.1_Silent_p.R383R	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	404	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTCGATCTGCGCGGAGAACAT	0.388000													9	66					0	0	0.008291	0	0
FRMPD2	143162	broad.mit.edu	37	10	49450294	49450294	+	Silent	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr10:49450294C>T	ENST00000374201.3	-	5	779	c.477G>A	c.(475-477)cgG>cgA	p.R159R	FRMPD2_ENST00000305531.3_Silent_p.R135R|FRMPD2_ENST00000407470.4_Silent_p.R128R	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	159	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTCATGAACCCGACAAGCTT	0.572000													10	114					0	0	0.006214	0	0
NAV3	89795	broad.mit.edu	37	12	78513397	78513397	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:78513397C>A	ENST00000397909.2	+	15	3594	c.3421C>A	c.(3421-3423)Cct>Act	p.P1141T	NAV3_ENST00000536525.2_Missense_Mutation_p.P1141T|NAV3_ENST00000228327.6_Missense_Mutation_p.P1141T|NAV3_ENST00000266692.7_Missense_Mutation_p.P1141T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1141	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTTGCCCCGCCCTTCAAAATC	0.527000										HNSCC(70;0.22)			8	72					0.000673444	0.000781111	0.008291	1	0
PAGE4	9506	broad.mit.edu	37	X	49597217	49597217	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:49597217C>G	ENST00000218068.6	+	4	335	c.256C>G	c.(256-258)Cca>Gca	p.P86A	PAGE4_ENST00000376141.1_Missense_Mutation_p.P86A	NM_007003.2	NP_008934.1	O60829	GAGC1_HUMAN	P antigen family, member 4 (prostate associated)	86												Ovarian(276;0.236)					AGAGAAGACTCCACCTAATCC	0.383000													7	61					0	0	0.004482	0	0
IL7	3574	broad.mit.edu	37	8	79652271	79652271	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr8:79652271T>A	ENST00000263851.4	-	3	794	c.194A>T	c.(193-195)aAc>aTc	p.N65I	IL7_ENST00000541183.1_Missense_Mutation_p.N14I|IL7_ENST00000520269.1_Missense_Mutation_p.N65I|IL7_ENST00000519833.1_5'UTR	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	65					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						TTTAAAAAAGTTAAATTCATT	0.269000													4	40					0	0	0.001168	0	0
DNAJB13	374407	broad.mit.edu	37	11	73669405	73669405	+	Missense_Mutation	SNP	G	G	A	rs145187500	byFrequency	TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:73669405G>A	ENST00000339764.1	+	2	863	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	38	J.				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					GAAGTCAAATGAGCCGTCTTC	0.527000													5	66					0	0	0.001984	0	0
TSR2	90121	broad.mit.edu	37	X	54469901	54469901	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:54469901G>T	ENST00000375151.4	+	3	262	c.241G>T	c.(241-243)Gtg>Ttg	p.V81L		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	81					rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						TGATACAGTTGTGGAAGACGG	0.522000													9	73					1.33987e-11	1.81594e-11	0.008291	1	0
OR9Q2	219957	broad.mit.edu	37	11	57958327	57958327	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:57958327G>A	ENST00000311591.3	+	1	422	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GCCTATGACCGCTACACGGCC	0.567000													10	123					0	0	0.008291	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854400	12854400	+	Silent	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:12854400A>G	ENST00000332296.7	+	3	727	c.624A>G	c.(622-624)caA>caG	p.Q208Q		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	208										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGTATTCAAGAGCTGGAAA	0.398000													11	331					0	0	0.008291	0	0
MMS22L	253714	broad.mit.edu	37	6	97616094	97616094	+	Silent	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr6:97616094T>C	ENST00000275053.4	-	20	3127	c.2862A>G	c.(2860-2862)gcA>gcG	p.A954A	MMS22L_ENST00000369251.2_Silent_p.A914A	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	954					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAAAGATTTGTGCCCATGATT	0.368000													12	67					0	0	0.000978	0	0
DAPK2	23604	broad.mit.edu	37	15	64263687	64263687	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr15:64263687T>C	ENST00000261891.3	-	3	393	c.388A>G	c.(388-390)Att>Gtt	p.I130V	DAPK2_ENST00000457488.1_Missense_Mutation_p.I130V|DAPK2_ENST00000558069.1_Missense_Mutation_p.I130V|DAPK2_ENST00000558482.1_5'UTR			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	130	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		ATCTGCTTAATGAAGCTGGTG	0.498000													8	114					0	0	0.008291	0	0
TNKS2	80351	broad.mit.edu	37	10	93586895	93586895	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr10:93586895T>C	ENST00000371627.4	+	8	1296	c.917T>C	c.(916-918)cTc>cCc	p.L306P		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	306					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CCAACACTGCTCAATTGTCAC	0.393000													4	76					0	0	0.000248	0	0
ASNS	440	broad.mit.edu	37	7	97481672	97481672	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:97481672G>A	ENST00000175506.4	-	14	2113	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W	ASNS_ENST00000455086.1_Missense_Mutation_p.R446W|ASNS_ENST00000394308.3_Missense_Mutation_p.R529W|ASNS_ENST00000394309.3_Missense_Mutation_p.R529W|ASNS_ENST00000444334.1_Missense_Mutation_p.R508W|ASNS_ENST00000437628.1_Missense_Mutation_p.R446W|ASNS_ENST00000422745.1_Missense_Mutation_p.R508W	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	529	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGTCAGCCCGGCCTGGGTAA	0.498000													6	127					0	0	0.001168	0	0
CALCR	799	broad.mit.edu	37	7	93072950	93072950	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:93072950C>A	ENST00000359558.2	-	11	1169	c.870G>T	c.(868-870)aaG>aaT	p.K290N	CALCR_ENST00000394441.1_Missense_Mutation_p.K256N|CALCR_ENST00000360249.4_Missense_Mutation_p.K272N|CALCR_ENST00000426151.1_Missense_Mutation_p.K256N|CALCR_ENST00000421592.1_Missense_Mutation_p.K272N	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	272					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCAAGCGTTGCTTCTCAGTAA	0.433000													6	92					3.59834e-05	4.33676e-05	0.001168	1	0
RPN1	6184	broad.mit.edu	37	3	128345617	128345617	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:128345617T>C	ENST00000296255.3	-	6	1143	c.1095A>G	c.(1093-1095)atA>atG	p.I365M	RPN1_ENST00000497289.1_Missense_Mutation_p.I193M|RPN1_ENST00000490166.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	365					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TCAGAGAATCTATCACTTGTT	0.463000			T	EVI1	AML								22	84					0	0	0.003330	0	0
SEC23A	10484	broad.mit.edu	37	14	39561791	39561791	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:39561791G>T	ENST00000536508.1	-	0	142				SEC23A_ENST00000545328.2_Intron|SEC23A_ENST00000307712.6_Missense_Mutation_p.P107H			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AAGTTCAGCAGGCTGATTCAG	0.274000													3	51					0.004672	0.0052383	0.004672	1	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs114234640	byFrequency	TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr6:32725567C>T	ENST00000435145.2	-	4	801	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552000													4	40					0	0	0.000248	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818792	159818792	+	RNA	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:159818792A>G	ENST00000497452.1	-	0	517																											TTCGAAGACAAAAACGATCAT	0.488000													8	158					0	0	0.003080	0	0
AKAP5	9495	broad.mit.edu	37	14	64935446	64935446	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:64935446G>A	ENST00000320636.5	+	1	1622	c.334G>A	c.(334-336)Gag>Aag	p.E112K	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.E112K			P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	112	Essential to the intracellular anchoring function (By similarity).				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		AATAAATGCTGAGGATGCTGA	0.413000													9	144					0	0	0.008291	0	0
GLUD2	2747	broad.mit.edu	37	X	120181571	120181571	+	Silent	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:120181571G>T	ENST00000328078.1	+	1	110	c.33G>T	c.(31-33)ccG>ccT	p.P11P		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	11					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	CGCTGCTGCCGTCCCGGGCCG	0.766000													18	58					1.10513e-12	1.50331e-12	0.002299	1	0
NYNRIN	57523	broad.mit.edu	37	14	24886453	24886453	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:24886453T>G	ENST00000382554.3	+	9	5816	c.5498T>G	c.(5497-5499)cTt>cGt	p.L1833R		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1833					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GACCAGGTCCTTTTGCTGTCC	0.582000													5	42					0	0	0.000602	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84605839	84605839	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr9:84605839G>A	ENST00000344803.2	+	4	501	c.454G>A	c.(454-456)Gct>Act	p.A152T		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCTGAAAGATGCTGCTCCCTC	0.552000													5	48					0	0	0.001168	0	0
SPTA1	6708	broad.mit.edu	37	1	158615301	158615301	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:158615301A>T	ENST00000368148.3	-	28	4160	c.3980T>A	c.(3979-3981)tTg>tAg	p.L1327*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.L1327*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1327					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTCTCCAGCAAGATCTCTAT	0.438000													8	157					0	0	0.004482	0	0
ZNF521	25925	broad.mit.edu	37	18	22805026	22805026	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr18:22805026G>A	ENST00000361524.3	-	4	3004	c.2856C>T	c.(2854-2856)caC>caT	p.H952H	ZNF521_ENST00000584787.1_Silent_p.H732H|ZNF521_ENST00000538137.2_Silent_p.H952H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	952					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGGGCCTAGGTGGGTCTGCA	0.468000			T	PAX5	ALL								4	88					0	0	0.000248	0	0
VWC2	375567	broad.mit.edu	37	7	49842409	49842409	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:49842409G>T	ENST00000340652.3	+	3	1355	c.799G>T	c.(799-801)Gat>Tat	p.D267Y		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	267	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GTACGAGCCTGATCAGTGCTG	0.572000													6	65					3.59834e-05	4.33676e-05	0.001168	1	0
MTUS2	23281	broad.mit.edu	37	13	30077257	30077257	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr13:30077257A>T	ENST00000431530.3	+	14	4112	c.4054A>T	c.(4054-4056)Att>Ttt	p.I1352F	MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000542829.1_Missense_Mutation_p.I231F|MTUS2_ENST00000380808.2_Missense_Mutation_p.I321F	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1342						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GACCAGTCCGATTAAACTCTC	0.572000													9	41					0	0	0.000978	0	0
ITGB6	3694	broad.mit.edu	37	2	161056565	161056565	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:161056565C>T	ENST00000283249.2	-	1	247	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	ITGB6_ENST00000409872.1_Missense_Mutation_p.E4K|ITGB6_ENST00000485635.1_Intron|ITGB6_ENST00000409967.2_Missense_Mutation_p.E4K|ITGB6_ENST00000428609.2_5'UTR			P18564	ITB6_HUMAN	integrin, beta 6	4					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CAAAGCAGTTCAATCCCCATT	0.388000													12	85					0	0	0.003163	0	0
ZNF536	9745	broad.mit.edu	37	19	31040325	31040325	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr19:31040325G>A	ENST00000355537.3	+	4	3946	c.3799G>A	c.(3799-3801)Gtc>Atc	p.V1267I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CATGCTGTCGGTCCTCAGGGC	0.582000													3	21					0	0	0.004672	0	0
APOL4	80832	broad.mit.edu	37	22	36587493	36587493	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr22:36587493A>G	ENST00000332987.1	-	7	1096	c.674T>C	c.(673-675)gTg>gCg	p.V225A	APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.V228A|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000479929.1_5'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	229					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						AAAAGAAAGCACATTGGGTGT	0.468000													4	57					0	0	0.000602	0	0
OR4M2	390538	broad.mit.edu	37	15	22369372	22369372	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr15:22369372C>G	ENST00000332663.2	+	1	895	c.797C>G	c.(796-798)tCg>tGg	p.S266W	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCATTTGACTCGTTTTCCCTA	0.418000													6	82					0	0	0.003080	0	0
TRPC4	7223	broad.mit.edu	37	13	38266233	38266233	+	Silent	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr13:38266233C>T	ENST00000379705.3	-	4	1994	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L	TRPC4_ENST00000379673.2_Silent_p.L379L|TRPC4_ENST00000379681.3_Silent_p.L379L|TRPC4_ENST00000447043.1_Silent_p.L379L|TRPC4_ENST00000338947.5_Silent_p.L206L|TRPC4_ENST00000379679.1_Silent_p.L206L|TRPC4_ENST00000426868.2_Silent_p.L379L|TRPC4_ENST00000355779.2_Silent_p.L379L|TRPC4_ENST00000358477.2_Silent_p.L379L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	379	Poly-Leu.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAAGCAGCAGCAGGAACAAAA	0.498000													6	58					0	0	0.001168	0	0
SEL1L2	80343	broad.mit.edu	37	20	13850153	13850153	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr20:13850153G>C	ENST00000284951.5	-	14	1325	c.1251C>G	c.(1249-1251)taC>taG	p.Y417*	SEL1L2_ENST00000378072.5_Nonsense_Mutation_p.Y417*|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	417						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ACTTACAGTAGTACATGAAGC	0.393000													9	48					0	0	0.008291	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70740431	70740431	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:70740431T>A	ENST00000370944.4	-	11	1679	c.1366A>T	c.(1366-1368)Agc>Tgc	p.S456C	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S421C	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	456					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AATTCCTGGCTCATGGCTATC	0.353000													8	134					0	0	0.004482	0	0
BBS2	583	broad.mit.edu	37	16	56535364	56535364	+	Missense_Mutation	SNP	T	T	C	rs62035990		TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr16:56535364T>C	ENST00000245157.5	-	10	1546	c.1126A>G	c.(1126-1128)Ata>Gta	p.I376V	BBS2_ENST00000568104.1_Missense_Mutation_p.I376V	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	376					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GCTGGGATTATGCCCCGATGC	0.507000									Bardet-Biedl syndrome				5	145					0	0	0.001168	0	0
SETD1A	9739	broad.mit.edu	37	16	30990966	30990966	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr16:30990966G>C	ENST00000262519.8	+	14	4545	c.3859G>C	c.(3859-3861)Gag>Cag	p.E1287Q		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGACGAGGCCGAGCGCCCTAG	0.726000													8	21					0	0	0.004482	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724577	38724577	+	Silent	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:38724577C>A	ENST00000342213.2	-	1	997	c.651G>T	c.(649-651)cgG>cgT	p.R217R		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	217						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGAGCTGTCCCCGGCAGAGCG	0.652000													27	188					1.16021e-09	1.52768e-09	0.007291	1	0
NUMA1	4926	broad.mit.edu	37	11	71715288	71715288	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:71715288G>A	ENST00000393695.3	-	25	6437	c.6106C>T	c.(6106-6108)Cca>Tca	p.P2036S	NUMA1_ENST00000358965.6_Missense_Mutation_p.P2022S|NUMA1_ENST00000351960.6_Missense_Mutation_p.P900S	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2036					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GTAGAAGCTGGAGCTGCTTTC	0.607000			T	RARA	APL								3	39					0	0	0.004672	0	0
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.Y832Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.587000										HNSCC(3;0.000094)			4	186					0	0	0.000248	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13121	13121	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrM:13121G>A	ENST00000361567.2	+	1	785	c.785G>A	c.(784-786)cGc>cAc	p.R262H				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	262					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CTTACTCATCCGCTTCCACCC	0.527000													4	17					0	0	0.000248	0	0
POP1	10940	broad.mit.edu	37	8	99168473	99168473	+	Silent	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr8:99168473A>G	ENST00000401707.2	+	15	2334	c.2253A>G	c.(2251-2253)aaA>aaG	p.K751K	POP1_ENST00000349693.3_Silent_p.K751K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	751					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGCCTAAAAAAACTCATCAGC	0.512000													17	74					0	0	0.007413	0	0
CNDP1	84735	broad.mit.edu	37	18	72247453	72247453	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr18:72247453A>T	ENST00000582365.1	+	9	1192	c.1126A>T	c.(1126-1128)Att>Ttt	p.I376F	CNDP1_ENST00000358821.3_Missense_Mutation_p.I419F			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	419					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		ACACCCGTGGATTGCAAATAT	0.448000													4	43					0	0	0.000248	0	0
LIMD1	8994	broad.mit.edu	37	3	45715878	45715878	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:45715878A>G	ENST00000273317.4	+	7	1889	c.1868A>G	c.(1867-1869)tAc>tGc	p.Y623C		NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	623	LIM zinc-binding 3.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GACAGAGACTACCACGTGGAG	0.577000													8	43					0	0	0.000978	0	0
GPS2	2874	broad.mit.edu	37	17	7216947	7216947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr17:7216947G>A	ENST00000380728.2	-	7	874	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	GPS2_ENST00000391950.3_Nonsense_Mutation_p.Q192*|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Nonsense_Mutation_p.Q192*			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	192					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	p.Q192*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGTGGGGGCTGAGCAGTCCCA	0.577000											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	76					0	0	0.000978	0	0
DOCK11	139818	broad.mit.edu	37	X	117676931	117676931	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:117676931G>C	ENST00000276204.6	+	3	336	c.262G>C	c.(262-264)Gta>Cta	p.V88L	DOCK11_ENST00000276202.7_Missense_Mutation_p.V88L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	88	Interaction with activated CDC42 (By similarity).				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCAGTCTACTGTACCAGAAGA	0.378000													8	91					0	0	0.003080	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220818	118220818	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:118220818T>C	ENST00000402510.2	-	11	4374	c.4375A>G	c.(4375-4377)Aat>Gat	p.N1459D		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1459										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGGTTATTATTACCATCACCA	0.443000													6	65					0	0	0.001168	0	0
GALNT13	114805	broad.mit.edu	37	2	155252568	155252568	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:155252568A>G	ENST00000392825.3	+	10	1789	c.1222A>G	c.(1222-1224)Aag>Gag	p.K408E	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.K408E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	408						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCTGAAGTGTAAGCCCTTTTC	0.373000													5	30					0	0	0.001984	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458667	90458667	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:90458667C>A	ENST00000603238.1	+	2	343	c.343C>A	c.(343-345)Cct>Act	p.115_115insT																								TGACAGTACCCCTCCCACAGC	0.517000													7	600					1.58986e-06	1.96083e-06	0.008291	1	0
APPBP2	10513	broad.mit.edu	37	17	58577832	58577832	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr17:58577832C>T	ENST00000083182.3	-	2	442	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	52					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTGACATAAGCGTCCCTGTTG	0.254000													10	47					0	0	0.001368	0	0
MAP3K9	4293	broad.mit.edu	37	14	71209239	71209239	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:71209239G>A	ENST00000554752.2	-	6	1395	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R160W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R466W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R466W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R203W			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	466	Leucine-zipper 2.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCCCGACGCCGCAGCAGTTCC	0.612000													6	45					0	0	0.001984	0	0
EFHC2	80258	broad.mit.edu	37	X	44109460	44109460	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:44109460G>A	ENST00000420999.1	-	5	921	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	280	DM10 2.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTACTCCTCCGGAGGAACATT	0.423000													5	37					0	0	0.001168	0	0
CHRNA6	8973	broad.mit.edu	37	8	42612091	42612091	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr8:42612091G>A	ENST00000276410.2	-	4	709	c.354C>T	c.(352-354)ccC>ccT	p.P118P	CHRNA6_ENST00000534622.1_Silent_p.P103P|CHRNA6_ENST00000530869.1_5'UTR	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	118						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GAACAATGTCGGGCTTCCAAA	0.423000													5	99					0	0	0.001168	0	0
SMARCA1	6594	broad.mit.edu	37	X	128599500	128599500	+	Silent	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:128599500G>T	ENST00000371122.4	-	23	3156	c.3027C>A	c.(3025-3027)gcC>gcA	p.A1009A	SMARCA1_ENST00000371121.3_Silent_p.A997A|SMARCA1_ENST00000371123.1_Silent_p.A997A	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	1009	SANT 2.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TACATACCATGGCAGTCCTAG	0.343000													11	161					0.000151284	0.000179408	0.001855	1	0
SAGE1	55511	broad.mit.edu	37	X	134989508	134989508	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:134989508T>C	ENST00000535938.1	+	9	1081	c.914T>C	c.(913-915)aTg>aCg	p.M305T	SAGE1_ENST00000324447.3_Missense_Mutation_p.M305T|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.M305T	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	305										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GAAGAGAAGATGGAAAATGAC	0.433000													20	104					0	0	0.002299	0	0
MOCS3	27304	broad.mit.edu	37	20	49575502	49575502	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr20:49575502A>T	ENST00000244051.1	+	1	140	c.123A>T	c.(121-123)gaA>gaT	p.E41D		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	41					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CGCAGCCAGAACGGCTGGTTC	0.617000													9	79					0	0	0.008291	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528786	77528786	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:77528786A>T	ENST00000373304.3	-	3	750	c.458T>A	c.(457-459)tTg>tAg	p.L153*		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	153					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AGAACTGGTCAAAATCACAAA	0.363000													3	26					0	0	0.000248	0	0
AKR1D1	6718	broad.mit.edu	37	7	137792186	137792186	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:137792186T>G	ENST00000242375.3	+	7	757	c.715T>G	c.(715-717)Tta>Gta	p.L239V	AKR1D1_ENST00000432161.1_Missense_Mutation_p.L239V|AKR1D1_ENST00000411726.2_Missense_Mutation_p.L198V|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	239					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCCACCTTTGTTAAAGGATGC	0.383000													7	109					0	0	0.006214	0	0
F8	2157	broad.mit.edu	37	X	154157498	154157498	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:154157498C>G	ENST00000360256.4	-	14	4767	c.4567G>C	c.(4567-4569)Gac>Cac	p.D1523H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1523	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGGAATAGGTCCTTCTGATAA	0.463000													8	133					0	0	0.000978	0	0
POTEE	445582	broad.mit.edu	37	2	132021858	132021858	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:132021858G>A	ENST00000356920.5	+	15	2924	c.2830G>A	c.(2830-2832)Gat>Aat	p.D944N	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	944	Actin-like.						ATP binding										CGAGCTGCCCGATGGCCAGGT	0.602000													4	148					0	0	0.000602	0	0
CSDE1	7812	broad.mit.edu	37	1	115266587	115266587	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:115266587T>A	ENST00000438362.2	-	16	2306	c.1928A>T	c.(1927-1929)tAc>tTc	p.Y643F	CSDE1_ENST00000339438.6_Missense_Mutation_p.Y566F|CSDE1_ENST00000358528.4_Missense_Mutation_p.Y597F|CSDE1_ENST00000261443.5_Missense_Mutation_p.Y566F|CSDE1_ENST00000369530.1_Missense_Mutation_p.Y612F|CSDE1_ENST00000530886.1_Missense_Mutation_p.Y467F|CSDE1_ENST00000534699.1_Missense_Mutation_p.Y597F	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	597	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGCCAGAGTAAATGGTGGG	0.413000													16	141					0	0	0.004990	0	0
C1orf74	148304	broad.mit.edu	37	1	209956173	209956173	+	Silent	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:209956173G>C	ENST00000294811.1	-	2	1063	c.807C>G	c.(805-807)ctC>ctG	p.L269L		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	269										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GTTAAAGTCAGAGGGCCACAG	0.468000													10	153					0	0	0.001368	0	0
RASA1	5921	broad.mit.edu	37	5	86642487	86642487	+	Splice_Site	SNP	A	A	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr5:86642487A>C	ENST00000456692.2	+	7	633		c.e7-1		RASA1_ENST00000506290.1_Splice_Site|RASA1_ENST00000512763.1_Splice_Site|RASA1_ENST00000274376.6_Splice_Site	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1						cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCTCTTTTTAAGATGGTTCCA	0.254000													4	49					0	0	0.000602	0	0
DENND4B	9909	broad.mit.edu	37	1	153907281	153907281	+	Missense_Mutation	SNP	G	G	C	rs3835302		TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:153907281G>C	ENST00000361217.4	-	18	3146	c.2728C>G	c.(2728-2730)Cag>Gag	p.Q910E		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	910	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACctgctcctgctgctgctgc	0.637000													3	29					0	0	0.004672	0	0
PRELID2	153768	broad.mit.edu	37	5	145202687	145202687	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr5:145202687G>C	ENST00000334744.4	-	2	138	c.86C>G	c.(85-87)cCc>cGc	p.P29R	PRELID2_ENST00000358004.2_Missense_Mutation_p.P29R|PRELID2_ENST00000505416.1_Missense_Mutation_p.P29R|PRELID2_ENST00000394450.2_5'UTR|PRELID2_ENST00000511435.1_Missense_Mutation_p.P29R	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	29	PRELI/MSF1.									endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTATCCATGGGGTTGGGGTA	0.318000													5	33					0	0	0.000602	0	0
HEPH	9843	broad.mit.edu	37	X	65475992	65475992	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:65475992G>T	ENST00000519389.1	+	17	3057	c.2878G>T	c.(2878-2880)Ggc>Tgc	p.G960C	HEPH_ENST00000336279.5_Missense_Mutation_p.G639C|HEPH_ENST00000343002.2_Missense_Mutation_p.G906C|HEPH_ENST00000419594.1_Missense_Mutation_p.G717C|HEPH_ENST00000441993.2_Missense_Mutation_p.G909C|HEPH_ENST00000374727.3_Missense_Mutation_p.G909C			Q9BQS7	HEPH_HUMAN	hephaestin	906	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGCCAAAAGGGCATCCTGGA	0.483000													6	86					0.00448238	0.00505634	0.004482	1	0
PCLO	27445	broad.mit.edu	37	7	82583230	82583230	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:82583230C>A	ENST00000423517.2	-	5	7376	c.7039G>T	c.(7039-7041)Gta>Tta	p.V2347L	PCLO_ENST00000333891.8_Missense_Mutation_p.V2347L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2278	Poly-Pro.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGCTATTACAGAAGAAGGT	0.433000													6	56					0.00198382	0.00226547	0.001984	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135764989	135764989	+	Silent	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:135764989C>G	ENST00000250617.6	-	13	2612	c.1407G>C	c.(1405-1407)cgG>cgC	p.R469R	ARHGEF6_ENST00000370620.1_Silent_p.R315R|ARHGEF6_ENST00000370622.1_Silent_p.R315R|ARHGEF6_ENST00000535227.1_Silent_p.R342R	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	469	PH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ACATAAGGTACCGCTCCTCTT	0.343000													6	89					0	0	0.001984	0	0
CD300LD	100131439	broad.mit.edu	37	17	72588302	72588302	+	Splice_Site	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr17:72588302C>T	ENST00000375352.1	-	1	120	c.40_splice	c.e1+1	p.G14_splice	C17orf77_ENST00000392620.1_Silent_p.T39T|C17orf77_ENST00000328023.2_Silent_p.T39T	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	14						integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						CCACACTCACCTGGGAGGATG	0.552000													8	58					0	0	0.008291	0	0
HIP1R	9026	broad.mit.edu	37	12	123338594	123338594	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:123338594C>G	ENST00000253083.4	+	8	707	c.582C>G	c.(580-582)ttC>ttG	p.F194L		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	194					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GCACAGTTTTCCGACAGCTCA	0.617000													17	202					0	0	0.003330	0	0
GRM8	2918	broad.mit.edu	37	7	126746621	126746621	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:126746621G>A	ENST00000339582.2	-	3	1464	c.656C>T	c.(655-657)tCg>tTg	p.S219L	GRM8_ENST00000358373.3_Missense_Mutation_p.S219L|GRM8_ENST00000405249.1_Missense_Mutation_p.S219L|GRM8_ENST00000444921.2_Missense_Mutation_p.S219L|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	219					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S219L(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCCAGTGTCGAAACATAATT	0.493000										HNSCC(24;0.065)			6	54					0	0	0.001984	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100478282	100478282	+	Silent	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:100478282T>C	ENST00000279907.7	-	10	1472	c.1260A>G	c.(1258-1260)acA>acG	p.T420T	UHRF1BP1L_ENST00000545232.2_Silent_p.T70T|UHRF1BP1L_ENST00000356828.3_Silent_p.T420T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	420										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GAGAGGCATGTGTTGGGGATT	0.423000													19	162					0	0	0.002780	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71503923	71503923	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr9:71503923A>G	ENST00000265382.3	+	7	650	c.345A>G	c.(343-345)atA>atG	p.I115M	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.I115M	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	115	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AACCTCTAATAGAACTGTCTA	0.383000													5	137					0	0	0.000602	0	0
SPAG17	200162	broad.mit.edu	37	1	118570994	118570994	+	Silent	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:118570994A>T	ENST00000336338.5	-	26	3698	c.3633T>A	c.(3631-3633)ccT>ccA	p.P1211P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1211						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTGTAAAACAGGTTCTGGTT	0.398000													21	73					0	0	0.001523	0	0
PDE10A	10846	broad.mit.edu	37	6	165746519	165746519	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr6:165746519C>T	ENST00000366882.1	-	23	2489	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	PDE10A_ENST00000539869.2_Missense_Mutation_p.D789N|PDE10A_ENST00000354448.4_Missense_Mutation_p.D779N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	779					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGTGCTCAATCTTCAGATGCA	0.527000													16	144					0	0	0.008871	0	0
OR12D2	26529	broad.mit.edu	37	6	29364823	29364823	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr6:29364823T>C	ENST00000383555.2	+	1	408	c.347T>C	c.(346-348)aTg>aCg	p.M116T	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTCGCCGTGATGGCATTTGAC	0.493000													6	51					0	0	0.001984	0	0
CSMD2	114784	broad.mit.edu	37	1	34006172	34006172	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:34006172G>A	ENST00000373381.4	-	60	9760	c.9584C>T	c.(9583-9585)aCc>aTc	p.T3195I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3171	Sushi 26.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCTCACAGGTGAACACCGC	0.572000													7	94					0	0	0.003080	0	0
EIF2D	1939	broad.mit.edu	37	1	206767018	206767018	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:206767018T>C	ENST00000271764.2	-	14	1842	c.1634A>G	c.(1633-1635)cAg>cGg	p.Q545R	EIF2D_ENST00000472709.2_Intron|EIF2D_ENST00000367114.3_Missense_Mutation_p.Q421R	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	545	SUI1.				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GATCTGCACCTGAAGGCTGTC	0.592000													9	92					0	0	0.004482	0	0
ARHGAP4	393	broad.mit.edu	37	X	153184609	153184609	+	Splice_Site	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:153184609G>A	ENST00000370028.3	-	7	987	c.930_splice	c.e7+1	p.D310_splice	ARHGAP4_ENST00000370016.1_Splice_Site_p.D249_splice|ARHGAP4_ENST00000350060.5_Splice_Site_p.D270_splice|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000537206.1_Splice_Site_p.D247_splice	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	270					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGACTCACGTCCATGAGGT	0.572000													4	114					0	0	0.001984	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			3	17					0	0	0.004672	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152222726	152222726	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:152222726C>A	ENST00000243347.3	+	3	464	c.389C>A	c.(388-390)cCa>cAa	p.P130Q		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	130					cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	p.P130Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		TGCTACAACCCACACGGTGTG	0.373000													4	50					0.00024832	0.000293541	0.000248	1	0
OR51Q1	390061	broad.mit.edu	37	11	5443585	5443585	+	Missense_Mutation	SNP	G	G	A	rs145294897		TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:5443585G>A	ENST00000300778.4	+	1	245	c.155G>A	c.(154-156)cGc>cAc	p.R52H	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGTCATTCGCACAGAGCCA	0.562000													7	228					0	0	0.001984	0	0
RELN	5649	broad.mit.edu	37	7	103191710	103191710	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:103191710C>T	ENST00000424685.2	-	41	6265	c.6106G>A	c.(6106-6108)Gcg>Acg	p.A2036T	RELN_ENST00000343529.5_Missense_Mutation_p.A2036T|RELN_ENST00000428762.1_Missense_Mutation_p.A2036T			P78509	RELN_HUMAN	reelin	2036					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGGATCCGCGGATGAGCTA	0.498000													6	29					0	0	0.001168	0	0
ZFAT	57623	broad.mit.edu	37	8	135615100	135615100	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr8:135615100C>A	ENST00000520727.1	-	7	1125	c.826G>T	c.(826-828)Gcc>Tcc	p.A276S	ZFAT_ENST00000377838.3_Missense_Mutation_p.A288S|ZFAT_ENST00000523399.1_Missense_Mutation_p.A226S|ZFAT_ENST00000520214.1_Missense_Mutation_p.A276S|ZFAT_ENST00000429442.2_Missense_Mutation_p.A276S|ZFAT_ENST00000520356.1_Missense_Mutation_p.A276S	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTCAGGTGGGCCTGCAGCGAG	0.512000													7	70					8.12818e-05	9.70138e-05	0.001984	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	54					0	0	0.004482	0	0
DACH1	1602	broad.mit.edu	37	13	72049967	72049967	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr13:72049967T>C	ENST00000305425.4	-	9	2313	c.1891A>G	c.(1891-1893)Agg>Ggg	p.R631G	DACH1_ENST00000313174.7_Missense_Mutation_p.R483G|DACH1_ENST00000354591.4_Missense_Mutation_p.R429G|DACH1_ENST00000359684.2_Missense_Mutation_p.R683G	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	681	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTCTTTAGCCTCTTTTGAACT	0.338000													6	68					0	0	0.001168	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	54					0	0	0.004672	0	0
TENM1	10178	broad.mit.edu	37	X	123587250	123587250	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:123587250G>A	ENST00000422452.2	-	23	4104	c.4041C>T	c.(4039-4041)atC>atT	p.I1347I	TENM1_ENST00000371130.3_Silent_p.I1340I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CATTTGAGCCGATTACAGTTG	0.423000													10	143					0	0	0.000978	0	0
HDX	139324	broad.mit.edu	37	X	83723856	83723856	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:83723856T>A	ENST00000297977.5	-	3	986	c.875A>T	c.(874-876)aAt>aTt	p.N292I	HDX_ENST00000373177.2_Missense_Mutation_p.N292I|HDX_ENST00000506585.2_Missense_Mutation_p.N234I	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	292						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGACAAACAATTTCCTTCTGC	0.473000													12	126					0	0	0.003163	0	0
PRDM9	56979	broad.mit.edu	37	5	23527643	23527643	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr5:23527643A>T	ENST00000296682.3	+	11	2628	c.2446A>T	c.(2446-2448)Aag>Tag	p.K816*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	816					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTTAGCAATAAGTCACACCT	0.567000										HNSCC(3;0.000094)			12	166					0	0	0.001855	0	0
GABRQ	55879	broad.mit.edu	37	X	151821537	151821537	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:151821537G>A	ENST00000370306.2	+	9	1712	c.1692G>A	c.(1690-1692)gaG>gaA	p.E564E		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	564						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATGATGATGAGCTCATGGCCC	0.517000													10	57					0	0	0.008291	0	0
DIP2C	22982	broad.mit.edu	37	10	436259	436259	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr10:436259G>A	ENST00000280886.6	-	12	1526	c.1439C>T	c.(1438-1440)cCc>cTc	p.P480L	DIP2C_ENST00000381496.3_Missense_Mutation_p.P373L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	480						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCAGTCTCGGGGCGGTTTGGA	0.478000													16	118					0	0	0.001882	0	0
HSD17B3	3293	broad.mit.edu	37	9	99015147	99015147	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr9:99015147G>C	ENST00000375263.3	-	4	370	c.323C>G	c.(322-324)aCa>aGa	p.T108R	HSD17B3_ENST00000375262.2_Missense_Mutation_p.T108R	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	108					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	GTCATCTTTTGTAAAATCTGC	0.393000													6	161					0	0	0.001984	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762765	92762765	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:92762765C>T	ENST00000318238.4	-	5	3736	c.2520G>A	c.(2518-2520)atG>atA	p.M840I	SAMD9L_ENST00000437805.1_Missense_Mutation_p.M840I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.M840I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	840										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCCGGGATCTCATGCAGTTTA	0.363000													11	121					0	0	0.001368	0	0
KCNK10	54207	broad.mit.edu	37	14	88729741	88729741	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:88729741C>A	ENST00000340700.5	-	2	643	c.192G>T	c.(190-192)caG>caT	p.Q64H	KCNK10_ENST00000312350.5_Missense_Mutation_p.Q69H|KCNK10_ENST00000319231.5_Missense_Mutation_p.Q69H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	64					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCATGACGGTCTGCAAGCCCC	0.607000													7	137					8.12818e-05	9.70138e-05	0.001984	1	0
ASB8	140461	broad.mit.edu	37	12	48543756	48543756	+	Missense_Mutation	SNP	C	C	T	rs149438083		TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:48543756C>T	ENST00000317697.3	-	4	429	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536071.1_3'UTR|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.R87Q	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	87					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GAGGGCTGTTCGGTTATACCC	0.483000													7	65					0	0	0.004482	0	0
PCDHA7	56141	broad.mit.edu	37	5	140216204	140216204	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr5:140216204G>A	ENST00000525929.1	+	1	2236	c.2236G>A	c.(2236-2238)Ggg>Agg	p.G746R	PCDHA7_ENST00000378125.3_Missense_Mutation_p.G746R|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGCGGTGGGGAGCTGGTC	0.642000													3	41					0	0	0.004672	0	0
IGHV4-39	28394	broad.mit.edu	37	14	106877649	106877649	+	RNA	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:106877649G>A	ENST00000390619.2	-	0	394																											CCGTGTCTGCGGCGGTCACAG	0.587000													51	329					0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563950	176563950	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:176563950C>T	ENST00000367662.3	+	3	2374	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R404C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	404					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCATCTTGCCGCTCTTTGCT	0.587000													4	144					0	0	0.000602	0	0
AP1G1	164	broad.mit.edu	37	16	71823312	71823312	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr16:71823312C>T	ENST00000299980.4	-	2	512	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	AP1G1_ENST00000433195.2_Missense_Mutation_p.R47Q|AP1G1_ENST00000570297.1_5'UTR|AP1G1_ENST00000569748.1_Missense_Mutation_p.R24Q|AP1G1_ENST00000423132.2_Missense_Mutation_p.R24Q|AP1G1_ENST00000393512.3_Missense_Mutation_p.R24Q	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	24					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GATCATTTCTCGTTCTTCAGC	0.468000													6	88					0	0	0.004482	0	0
NPHS2	7827	broad.mit.edu	37	1	179530487	179530487	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:179530487C>A	ENST00000367615.4	-	3	456	c.388G>T	c.(388-390)Gag>Tag	p.E130*	NPHS2_ENST00000367616.4_Nonsense_Mutation_p.E130*	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	130					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTTTCATACTCTTGTACAACC	0.368000													8	142					1.58986e-06	1.96083e-06	0.008291	1	0
NAV3	89795	broad.mit.edu	37	12	78513398	78513398	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:78513398C>A	ENST00000397909.2	+	15	3595	c.3422C>A	c.(3421-3423)cCt>cAt	p.P1141H	NAV3_ENST00000536525.2_Missense_Mutation_p.P1141H|NAV3_ENST00000228327.6_Missense_Mutation_p.P1141H|NAV3_ENST00000266692.7_Missense_Mutation_p.P1141H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1141	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTGCCCCGCCCTTCAAAATCC	0.532000										HNSCC(70;0.22)			8	72					0.000673444	0.000781111	0.008291	1	0
OR52L1	338751	broad.mit.edu	37	11	6007675	6007675	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:6007675G>A	ENST00000332249.4	-	1	540	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I147I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCATTCCGATGCACCCTA	0.517000													5	73					0	0	0.001984	0	0
ZNF154	7710	broad.mit.edu	37	19	58214004	58214004	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr19:58214004G>A	ENST00000512439.2	-	3	509	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F	AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.L105F			Q13106	ZN154_HUMAN	zinc finger protein 154	105						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTTGATGGAGAAATCCCAAC	0.517000													5	59					0	0	0.000602	0	0
POLR2H	5437	broad.mit.edu	37	3	184086079	184086079	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:184086079C>G	ENST00000456318.1	+	6	1499	c.450C>G	c.(448-450)ttC>ttG	p.F150L	POLR2H_ENST00000296223.3_Missense_Mutation_p.F150L|POLR2H_ENST00000438240.1_Missense_Mutation_p.F114L|POLR2H_ENST00000443489.1_Missense_Mutation_p.F86L|POLR2H_ENST00000452961.1_Missense_Mutation_p.F114L|POLR2H_ENST00000429568.1_Missense_Mutation_p.L172V|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000430783.1_Missense_Mutation_p.F122L	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	150					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCTAGCCTTCTGAACCTCGC	0.567000													7	129					0	0	0.008291	0	0
RP11-64J4.2	0	broad.mit.edu	37	17	3214548	3214548	+	RNA	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr17:3214548G>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							GTGTCTCCAGGCCCACCAGTG	0.572000													14	70					7.93312e-07	9.88301e-07	0.002450	1	0
ZBTB11	27107	broad.mit.edu	37	3	101390835	101390835	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:101390835T>C	ENST00000312938.4	-	2	1113	c.533A>G	c.(532-534)cAt>cGt	p.H178R	ZBTB11_ENST00000461821.1_Missense_Mutation_p.H178R	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CACAAGTTCATGTTTGGATAC	0.393000													8	61					0	0	0.000978	0	0
FLG2	388698	broad.mit.edu	37	1	152325595	152325595	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:152325595G>T	ENST00000388718.5	-	3	4739	c.4667C>A	c.(4666-4668)tCt>tAt	p.S1556Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1556							calcium ion binding|structural molecule activity	p.S1556C(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATGACCAGAGTAGGAATG	0.483000													33	281					3.11337e-16	4.28234e-16	0.002836	1	0
SOGA3	387104	broad.mit.edu	37	6	127796879	127796879	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr6:127796879G>A	ENST00000556132.1	-	6	3156	c.2292C>T	c.(2290-2292)gaC>gaT	p.D764D	SOGA3_ENST00000368268.2_Silent_p.D764D|SOGA3_ENST00000481848.2_Silent_p.D764D|SOGA3_ENST00000525778.1_Silent_p.D764D|SOGA3_ENST00000465909.2_Silent_p.D764D	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	764						integral to membrane											GCCGCGAGTCGTCGTCGCTCT	0.716000													7	33					0	0	0.003080	0	0
DYSF	8291	broad.mit.edu	37	2	71795372	71795372	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:71795372C>T	ENST00000258104.3	+	26	2991	c.2714C>T	c.(2713-2715)tCt>tTt	p.S905F	DYSF_ENST00000409366.1_Missense_Mutation_p.S906F|DYSF_ENST00000409651.1_Missense_Mutation_p.S937F|DYSF_ENST00000410041.1_Missense_Mutation_p.S923F|DYSF_ENST00000394120.2_Missense_Mutation_p.S906F|DYSF_ENST00000429174.2_Missense_Mutation_p.S905F|DYSF_ENST00000409582.3_Missense_Mutation_p.S922F|DYSF_ENST00000409744.1_Missense_Mutation_p.S892F|DYSF_ENST00000413539.2_Missense_Mutation_p.S936F|DYSF_ENST00000409762.1_Missense_Mutation_p.S922F|DYSF_ENST00000410020.3_Missense_Mutation_p.S923F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	905						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCAAGTTTTCTGACGTCACG	0.592000													9	337					0	0	0.008291	0	0
PARP8	79668	broad.mit.edu	37	5	50091199	50091199	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr5:50091199C>G	ENST00000281631.5	+	12	1534	c.1376C>G	c.(1375-1377)tCa>tGa	p.S459*	PARP8_ENST00000503750.2_Nonsense_Mutation_p.S459*|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Nonsense_Mutation_p.S459*|PARP8_ENST00000514342.2_Nonsense_Mutation_p.S212*|PARP8_ENST00000505554.1_Nonsense_Mutation_p.S438*|PARP8_ENST00000514067.2_Nonsense_Mutation_p.S459*	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	459						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCTCTTACCTCAGGGCTTATT	0.448000													5	57					0	0	0.000602	0	0
ZNF57	126295	broad.mit.edu	37	19	2917901	2917901	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr19:2917901A>G	ENST00000306908.5	+	4	1430	c.1282A>G	c.(1282-1284)Acc>Gcc	p.T428A	ZNF57_ENST00000523428.1_Missense_Mutation_p.T396A|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTGGAAAAACCTTCACTTG	0.453000													3	87					0	0	0.004672	0	0
WNT16	51384	broad.mit.edu	37	7	120979309	120979309	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:120979309C>A	ENST00000222462.2	+	4	1298	c.1008C>A	c.(1006-1008)caC>caA	p.H336Q	WNT16_ENST00000361301.2_Missense_Mutation_p.H326Q	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	336					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					TGGTCAGGCACGTGGAGAGGT	0.537000													15	59					1.5739e-10	2.09475e-10	0.004007	1	0
MS4A5	64232	broad.mit.edu	37	11	60215196	60215196	+	Silent	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:60215196C>T	ENST00000300190.2	+	5	653	c.567C>T	c.(565-567)tgC>tgT	p.C189C		NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	189						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TTTTGGGGTGCCACTCAGAGG	0.333000													6	137					0	0	0.003080	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834232	101834232	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr5:101834232C>A	ENST00000506729.1	-	1	488	c.317G>T	c.(316-318)cGc>cTc	p.R106L	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R106L|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R106L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R106L|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R106L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	106	Cys-rich.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CATGAAGCAGCGAATGTTATT	0.547000													9	30					0.000442599	0.000521534	0.006214	1	0
PPM1E	22843	broad.mit.edu	37	17	57057436	57057436	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr17:57057436T>A	ENST00000308249.2	+	7	1441	c.1312T>A	c.(1312-1314)Tat>Aat	p.Y438N		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	447	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TGATGGCTTCTATGACACCGT	0.493000													8	43					0	0	0.003080	0	0
ITGA4	3676	broad.mit.edu	37	2	182389982	182389982	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:182389982T>C	ENST00000397033.2	+	21	2733	c.2303T>C	c.(2302-2304)aTa>aCa	p.I768T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	768					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACTGTAGCAATACCTTTAAAA	0.358000													6	46					0	0	0.001984	0	0
SNX16	64089	broad.mit.edu	37	8	82736126	82736126	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr8:82736126C>G	ENST00000396330.2	-	5	1018	c.512G>C	c.(511-513)tGg>tCg	p.W171S	SNX16_ENST00000353788.4_Missense_Mutation_p.W142S|SNX16_ENST00000345957.4_Missense_Mutation_p.W171S	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	171	PX.				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						ATCTTTAAACCAGCGTTTTGG	0.343000													4	39					0	0	0.000602	0	0
TRGC1	6966	broad.mit.edu	37	7	38305263	38305263	+	RNA	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:38305263T>C	ENST00000443402.2	-	0	16					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					GGGAAACATCTGCATCAAGTT	0.383000													27	208					0	0	0.003755	0	0
OR6K6	128371	broad.mit.edu	37	1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:158725536T>C	ENST00000368144.2	+	1	1027	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438000													4	99					0	0	0.001168	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49325180	49325180	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr15:49325180C>A	ENST00000559471.1	-	4	909	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.D216Y	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	216										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TGTGAAGCATCTACCAGAAGC	0.398000													15	202					1.15919e-05	1.41085e-05	0.008871	1	0
ATE1	11101	broad.mit.edu	37	10	123661995	123661995	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr10:123661995A>G	ENST00000369043.3	-	6	810	c.724T>C	c.(724-726)Ttt>Ctt	p.F242L	ATE1_ENST00000224652.6_Missense_Mutation_p.F242L|ATE1_ENST00000543447.1_Missense_Mutation_p.F127L|ATE1_ENST00000369040.3_Missense_Mutation_p.F146L|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000540606.1_Missense_Mutation_p.F235L|ATE1_ENST00000481784.1_5'UTR	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	242					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TTTGGTGGAAACAAAGATGGT	0.423000													16	98					0	0	0.006122	0	0
EPHA8	2046	broad.mit.edu	37	1	22923960	22923960	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:22923960A>G	ENST00000166244.3	+	10	1993	c.1921A>G	c.(1921-1923)Atc>Gtc	p.I641V		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	641	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGAGAAAATCATCGGCTCTGG	0.657000													5	92					0	0	0.001984	0	0
GDPD2	54857	broad.mit.edu	37	X	69649556	69649556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:69649556C>T	ENST00000453994.2	+	11	1511	c.1150C>T	c.(1150-1152)Caa>Taa	p.Q384*	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Nonsense_Mutation_p.Q305*|GDPD2_ENST00000536730.1_Nonsense_Mutation_p.Q305*|GDPD2_ENST00000374382.3_Nonsense_Mutation_p.Q384*	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	384	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					AAGGGTGCCCCAAGCCATGGT	0.562000													3	23					0	0	0.004672	0	0
BCHE	590	broad.mit.edu	37	3	165547467	165547467	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:165547467C>A	ENST00000264381.3	-	2	1521	c.1355G>T	c.(1354-1356)cGa>cTa	p.R452L	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	452					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTTGGAGGATCGGTGTTCAAA	0.403000													13	129					1.67942e-08	2.18029e-08	0.006122	1	0
TAS2R46	259292	broad.mit.edu	37	12	11214561	11214561	+	Silent	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:11214561G>T	ENST00000533467.1	-	1	332	c.333C>A	c.(331-333)gcC>gcA	p.A111A	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	111					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGGAGAAATTGGCAATCTTGA	0.373000													13	83					4.7546e-09	6.21627e-09	0.004007	1	0
FAM47C	442444	broad.mit.edu	37	X	37028868	37028868	+	Silent	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:37028868A>G	ENST00000358047.3	+	1	2437	c.2385A>G	c.(2383-2385)cgA>cgG	p.R795R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	795										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACTCGTCGAGTGTCCAGTC	0.617000													4	45					0	0	0.000602	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657346	40657346	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:40657346G>A	ENST00000406785.1	-	2	264	c.75C>T	c.(73-75)ctC>ctT	p.L25L	SLC8A1_ENST00000408028.2_Silent_p.L25L|SLC8A1_ENST00000406391.2_Silent_p.L25L|SLC8A1_ENST00000405901.3_Silent_p.L25L|SLC8A1_ENST00000405269.1_Silent_p.L25L|SLC8A1_ENST00000403092.1_Silent_p.L25L|SLC8A1_ENST00000402441.1_Silent_p.L25L|SLC8A1_ENST00000332839.4_Silent_p.L25L|SLC8A1_ENST00000542756.1_Silent_p.L25L|SLC8A1_ENST00000542024.1_Silent_p.L25L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	25					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGGAAAATAAGAGACTCACAG	0.408000													8	102					0	0	0.004482	0	0
CASD1	64921	broad.mit.edu	37	7	94157528	94157528	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:94157528G>T	ENST00000297273.4	+	5	712	c.425G>T	c.(424-426)gGt>gTt	p.G142V		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	142						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GAAGTTAATGGTTCTATGAAA	0.284000													7	56					0.00307968	0.00349534	0.003080	1	0
MON2	23041	broad.mit.edu	37	12	62918926	62918926	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:62918926A>G	ENST00000393630.3	+	10	1563	c.1172A>G	c.(1171-1173)aAt>aGt	p.N391S	MON2_ENST00000393629.2_Missense_Mutation_p.N391S|MON2_ENST00000552738.1_Missense_Mutation_p.N391S|MON2_ENST00000552115.1_Missense_Mutation_p.N391S|MON2_ENST00000393632.2_Missense_Mutation_p.N391S|MON2_ENST00000546600.1_Missense_Mutation_p.N391S|MON2_ENST00000280379.6_Missense_Mutation_p.N391S	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	391					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GATATTGTAAATGCACTGGGA	0.338000													6	51					0	0	0.003080	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378654	113378654	+	Silent	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:113378654T>C	ENST00000316407.4	-	7	2285	c.1875A>G	c.(1873-1875)ccA>ccG	p.P625P	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.P625P	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	625					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CAAAAGTCTGTGGTGTTGGAA	0.433000													15	95					0	0	0.004990	0	0
NXPE4	54827	broad.mit.edu	37	11	114453682	114453682	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:114453682A>G	ENST00000375478.3	-	3	338	c.158T>C	c.(157-159)tTa>tCa	p.L53S	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TTTAGGGAATAAGGACTTTGT	0.393000													18	191					0	0	0.008871	0	0
LCT	3938	broad.mit.edu	37	2	136575248	136575248	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:136575248C>G	ENST00000264162.2	-	6	1380	c.1370G>C	c.(1369-1371)tGg>tCg	p.W457S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	457	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GATCCGGGACCAGGAGATGGA	0.627000													9	57					0	0	0.008291	0	0
ZBTB25	7597	broad.mit.edu	37	14	64954637	64954637	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:64954637G>A	ENST00000394715.1	-	6	1013	c.312C>T	c.(310-312)gcC>gcT	p.A104A	ZBTB25_ENST00000261683.2_Silent_p.A104A|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	104	BTB.					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		AAAGGTAGTCGGCGTGAAGAA	0.418000													4	91					0	0	0.000248	0	0
ABCB4	5244	broad.mit.edu	37	7	87031509	87031509	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:87031509C>G	ENST00000265723.4	-	28	3875	c.3764G>C	c.(3763-3765)gGg>gCg	p.G1255A	ABCB4_ENST00000453593.1_Missense_Mutation_p.G1201A|ABCB4_ENST00000545634.1_Missense_Mutation_p.G1248A|ABCB4_ENST00000359206.3_Missense_Mutation_p.G1248A|ABCB4_ENST00000358400.3_Missense_Mutation_p.G1201A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1255	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTTGACTCTCCCATTCTGAAA	0.512000													10	145					0	0	0.000978	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107049112	107049112	+	RNA	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:107049112A>T	ENST00000390627.2	-	0	229																											AGCTCAGCCAAAACTCCATGG	0.488000													37	240					0	0	0.002522	0	0
MTUS2	23281	broad.mit.edu	37	13	30077256	30077256	+	Silent	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr13:30077256G>C	ENST00000431530.3	+	14	4111	c.4053G>C	c.(4051-4053)ccG>ccC	p.P1351P	MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000542829.1_Silent_p.P230P|MTUS2_ENST00000380808.2_Silent_p.P320P	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1341						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGACCAGTCCGATTAAACTCT	0.567000													9	41					0	0	0.000978	0	0
SAP130	79595	broad.mit.edu	37	2	128747338	128747338	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:128747338G>A	ENST00000357702.5	-	13	1789	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L	SAP130_ENST00000259235.3_Missense_Mutation_p.S553L|SAP130_ENST00000259234.6_Missense_Mutation_p.S527L	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	553					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCGAGCATGCGATGCATCCAC	0.572000													6	63					0	0	0.001984	0	0
G6PC	2538	broad.mit.edu	37	17	41063209	41063209	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr17:41063209C>G	ENST00000253801.2	+	5	919	c.840C>G	c.(838-840)taC>taG	p.Y280*	G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	280					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCAGCATGTACAGGGAGAGCT	0.572000													4	39					0	0	0.000248	0	0
EIF3L	51386	broad.mit.edu	37	22	38274119	38274119	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr22:38274119A>G	ENST00000412331.2	+	11	2098	c.1516A>G	c.(1516-1518)Atc>Gtc	p.I506V	EIF3L_ENST00000406934.1_Missense_Mutation_p.I408V|EIF3L_ENST00000381683.6_Missense_Mutation_p.I458V	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	506						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GACCAGCGGTATCTCAGCCCT	0.517000													3	95					0	0	0.000602	0	0
CA5B	11238	broad.mit.edu	37	X	15768256	15768256	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:15768256A>T	ENST00000318636.3	+	2	246	c.110A>T	c.(109-111)tAt>tTt	p.Y37F	CA5B_ENST00000454127.2_Missense_Mutation_p.Y37F|CA5B_ENST00000380313.1_3'UTR	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	37					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					TGCAGCCTCTATACTTGTACT	0.493000													26	142					0	0	0.002096	0	0
NLGN4X	57502	broad.mit.edu	37	X	5810994	5810994	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:5810994G>T	ENST00000381095.3	-	6	2942	c.2315C>A	c.(2314-2316)cCa>cAa	p.P772Q	NLGN4X_ENST00000538097.1_Missense_Mutation_p.P772Q|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P772Q|NLGN4X_ENST00000381092.1_Missense_Mutation_p.P772Q|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P792Q	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	772					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGTCATAAGTGGGATGTCATC	0.552000													14	139					6.31663e-08	8.00394e-08	0.003163	1	0
SYT12	91683	broad.mit.edu	37	11	66807372	66807372	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:66807372A>G	ENST00000393946.2	+	7	1481	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Missense_Mutation_p.I107V|SYT12_ENST00000525457.1_Missense_Mutation_p.I107V			Q8IV01	SYT12_HUMAN	synaptotagmin XII	107						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CTTTGAGAGCATCAGTGAACT	0.642000													8	111					0	0	0.008291	0	0
CENPJ	55835	broad.mit.edu	37	13	25479796	25479796	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr13:25479796C>A	ENST00000381884.4	-	7	2565	c.2380G>T	c.(2380-2382)Gat>Tat	p.D794Y	CENPJ_ENST00000545981.1_Missense_Mutation_p.D794Y	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	794					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTTTCATCATCAAAGTCCATT	0.418000													9	93					1.76689e-08	2.27788e-08	0.006214	1	0
OR2T1	26696	broad.mit.edu	37	1	248570332	248570332	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:248570332A>T	ENST00000366474.1	+	1	1037	c.1037A>T	c.(1036-1038)gAt>gTt	p.D346V		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	346					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAAACAAGGATGTGACTGGA	0.512000													27	178					0	0	0.002096	0	0
DUSP26	78986	broad.mit.edu	37	8	33451115	33451115	+	Silent	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr8:33451115A>G	ENST00000256261.4	-	3	889	c.372T>C	c.(370-372)ttT>ttC	p.F124F	DUSP26_ENST00000523956.1_Silent_p.F124F	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	124	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TGCTCATGTCAAAGGCTGGCG	0.642000													7	71					0	0	0.008291	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834688	125834688	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:125834688G>T	ENST00000299308.3	+	2	751	c.743G>T	c.(742-744)aGc>aTc	p.S248I		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	248						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCCTGGAGAGCCCCCAGCAA	0.572000													13	67					2.27111e-07	2.84851e-07	0.001368	1	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605992	1605992	+	Missense_Mutation	SNP	G	G	T	rs60899198		TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:1605992G>T	ENST00000382171.2	-	1	521	c.488C>A	c.(487-489)tCc>tAc	p.S163Y	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	163	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCCCCCTTGGAGCACCCACA	0.652000													14	165					3.27435e-08	4.16327e-08	0.002450	1	0
WHSC1	7468	broad.mit.edu	37	4	1902635	1902635	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr4:1902635G>T	ENST00000503128.1	+	2	461	c.254G>T	c.(253-255)cGg>cTg	p.R85L	WHSC1_ENST00000382891.5_Missense_Mutation_p.R85L|WHSC1_ENST00000436793.1_Missense_Mutation_p.R85L|WHSC1_ENST00000382892.2_Missense_Mutation_p.R85L|WHSC1_ENST00000382895.3_Missense_Mutation_p.R85L|WHSC1_ENST00000420906.2_Missense_Mutation_p.R85L|WHSC1_ENST00000514045.1_Missense_Mutation_p.R85L|WHSC1_ENST00000508803.1_Missense_Mutation_p.R85L|WHSC1_ENST00000398261.1_Missense_Mutation_p.R85L			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	85					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTTACTTCCCGGGTGTTTAAT	0.537000			T	IGH@	MM								16	45					2.35188e-11	3.1759e-11	0.006122	1	0
SYNE1	23345	broad.mit.edu	37	6	152771825	152771825	+	Silent	SNP	A	A	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr6:152771825A>C	ENST00000367255.5	-	27	3931	c.3330T>G	c.(3328-3330)gcT>gcG	p.A1110A	SYNE1_ENST00000341594.5_Silent_p.A1176A|SYNE1_ENST00000423061.1_Silent_p.A1117A|SYNE1_ENST00000265368.4_Silent_p.A1110A|SYNE1_ENST00000413186.2_Silent_p.A1110A|SYNE1_ENST00000367253.4_Silent_p.A1110A|SYNE1_ENST00000367248.3_Silent_p.A1100A|SYNE1_ENST00000448038.1_Silent_p.A1117A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1110					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTCAATGGCAGCTCTGAGCT	0.542000										HNSCC(10;0.0054)			12	151					0	0	0.001855	0	0
HCFC1	3054	broad.mit.edu	37	X	153236139	153236139	+	Silent	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:153236139G>T	ENST00000310441.7	-	1	1119	c.153C>A	c.(151-153)ggC>ggA	p.G51G	HCFC1_ENST00000369984.4_Silent_p.G51G|HCFC1_ENST00000354233.3_Silent_p.G51G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	51					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCCCTCGTTGCCGCCGCCAA	0.662000													10	36					2.27111e-07	2.84851e-07	0.001368	1	0
SCN11A	11280	broad.mit.edu	37	3	38936043	38936043	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:38936043T>C	ENST00000450244.1	-	15	3014	c.2816A>G	c.(2815-2817)cAa>cGa	p.Q939R	SCN11A_ENST00000444237.2_Missense_Mutation_p.Q939R|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q939R|SCN11A_ENST00000302328.3_Missense_Mutation_p.Q939R			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	939					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGGCTCAGGTTGTGTGATGCG	0.493000													21	211					0	0	0.003954	0	0
TET2	54790	broad.mit.edu	37	4	106156588	106156588	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr4:106156588A>T	ENST00000540549.1	+	3	2349	c.1489A>T	c.(1489-1491)Act>Tct	p.T497S	TET2_ENST00000413648.2_Missense_Mutation_p.T497S|TET2_ENST00000380013.4_Missense_Mutation_p.T497S|TET2_ENST00000305737.2_Missense_Mutation_p.T497S|TET2_ENST00000513237.1_Missense_Mutation_p.T518S|TET2_ENST00000545826.1_Missense_Mutation_p.T497S|TET2_ENST00000394764.1_Missense_Mutation_p.T497S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	497					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.T497S(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGGGACAATGACTGTTCCATT	0.443000			"""Mis N, F"""		MDS								18	72					0	0	0.002299	0	0
XIAP	331	broad.mit.edu	37	X	123040864	123040864	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:123040864C>G	ENST00000371199.3	+	7	1626	c.1327C>G	c.(1327-1329)Cgc>Ggc	p.R443G	XIAP_ENST00000355640.3_Missense_Mutation_p.R443G|XIAP_ENST00000434753.3_Missense_Mutation_p.R443G|XIAP_ENST00000468691.1_3'UTR	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	443					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GCAGCTAAGGCGCCTGCAAGA	0.343000									X-linked Lymphoproliferative syndrome				6	81					0	0	0.003080	0	0
PTX4	390667	broad.mit.edu	37	16	1536429	1536429	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr16:1536429G>A	ENST00000440447.2	-	3	574	c.503C>T	c.(502-504)aCg>aTg	p.T168M	PTX4_ENST00000293922.1_Silent_p.Y311Y|PTX4_ENST00000447419.2_Silent_p.Y316Y			Q96A99	PTX4_HUMAN	pentraxin 4, long	0						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCTCGGTGGCGTAGGACAGGA	0.667000													6	51					0	0	0.003080	0	0
MCF2	4168	broad.mit.edu	37	X	138714570	138714570	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:138714570G>T	ENST00000520602.1	-	5	560	c.275C>A	c.(274-276)cCt>cAt	p.P92H	MCF2_ENST00000536274.1_Missense_Mutation_p.P32H|MCF2_ENST00000370573.4_Missense_Mutation_p.P32H|MCF2_ENST00000414978.1_Missense_Mutation_p.P92H|MCF2_ENST00000370578.4_Missense_Mutation_p.P177H|MCF2_ENST00000370576.4_Missense_Mutation_p.P32H|MCF2_ENST00000519895.1_Missense_Mutation_p.P92H|MCF2_ENST00000338585.6_Missense_Mutation_p.P32H			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	32					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.P32R(2)|p.P92R(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAAGCTGGTAGGACGTAAAAC	0.353000													6	78					2.7689e-08	3.54495e-08	0.001984	1	0
BTAF1	9044	broad.mit.edu	37	10	93695417	93695417	+	Silent	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr10:93695417A>G	ENST00000265990.6	+	2	326	c.18A>G	c.(16-18)ctA>ctG	p.L6L		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	6					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTTCAGGCTAGATCGCCTTT	0.388000													13	53					0	0	0.002450	0	0
KCNAB1	7881	broad.mit.edu	37	3	156249199	156249199	+	Splice_Site	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:156249199G>A	ENST00000302490.8	+	13	1900	c.1027_splice	c.e13-1	p.A343_splice	KCNAB1_ENST00000471742.1_Splice_Site_p.A350_splice|KCNAB1_ENST00000490337.1_Splice_Site_p.A361_splice|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Splice_Site_p.A314_splice|KCNAB1_ENST00000389636.5_Splice_Site_p.A332_splice	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	361						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCTCCCAGCGTGGTGCCTGA	0.463000													6	211					0	0	0.003080	0	0
RSPO2	340419	broad.mit.edu	37	8	109001377	109001377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr8:109001377G>A	ENST00000276659.5	-	3	810	c.190C>T	c.(190-192)Cga>Tga	p.R64*	RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	64					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCTTCTCTTCGAAGGAAGAAG	0.478000													5	72					0	0	0.000602	0	0
CXorf57	55086	broad.mit.edu	37	X	105868456	105868456	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:105868456C>G	ENST00000372548.4	+	3	1032	c.923C>G	c.(922-924)cCa>cGa	p.P308R	CXorf57_ENST00000372544.2_Missense_Mutation_p.P308R	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	308										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGAGTTATCCATTCAGAATA	0.383000													6	109					0	0	0.001984	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904003	144904003	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:144904003G>T	ENST00000370490.1	+	1	4315	c.60G>T	c.(58-60)gaG>gaT	p.E20D	SLITRK2_ENST00000413937.2_Missense_Mutation_p.E20D|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E20D|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E20D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E20D			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	20						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TACAGACAGAGAGTCGCAAAA	0.473000													7	46					0.00198382	0.00226547	0.001984	1	0
TP53TG5	27296	broad.mit.edu	37	20	44003715	44003715	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr20:44003715G>A	ENST00000372726.3	-	4	888	c.732C>T	c.(730-732)tcC>tcT	p.S244S	TP53TG5_ENST00000537995.1_Silent_p.S228S|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	244					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CAAGTGATGCGGAGCAGAAGC	0.612000													11	93					0	0	0.000978	0	0
MACROD2	140733	broad.mit.edu	37	20	13983012	13983012	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr20:13983012C>G	ENST00000217246.4	+	2	520	c.125C>G	c.(124-126)tCa>tGa	p.S42*	MACROD2_ENST00000310348.4_Nonsense_Mutation_p.S42*	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	42										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGCATTCTATCATGGAAGGAG	0.378000													6	117					0	0	0.001984	0	0
LAMP3	27074	broad.mit.edu	37	3	182872155	182872155	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:182872155A>G	ENST00000265598.3	-	2	329	c.74T>C	c.(73-75)aTg>aCg	p.M25T	LAMP3_ENST00000466939.1_Start_Codon_SNP_p.M1T	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	25					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TTTTGCTCTCATTTGACTGCC	0.398000													8	85					0	0	0.006214	0	0
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589		TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).		activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612000	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""								4	32					0	0	0.000602	0	0
CCDC50	152137	broad.mit.edu	37	3	191092900	191092900	+	Silent	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:191092900A>G	ENST00000392456.3	+	6	1088	c.498A>G	c.(496-498)agA>agG	p.R166R	CCDC50_ENST00000392455.3_Intron	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	162						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GATTCTCAAGACCTTGTAGAC	0.438000													4	59					0	0	0.000602	0	0
EFCAB12	90288	broad.mit.edu	37	3	129140646	129140646	+	Splice_Site	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:129140646C>A	ENST00000505956.1	-	2	212	c.49_splice	c.e2-1	p.G17_splice	EFCAB12_ENST00000326085.3_Splice_Site_p.G17_splice	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		CGGGCAGAGTCCTTGGGGTAA	0.507000													4	24					0.000602214	0.0007029	0.000602	1	0
FAM163A	148753	broad.mit.edu	37	1	179783246	179783246	+	Silent	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:179783246C>T	ENST00000341785.4	+	5	822	c.426C>T	c.(424-426)ccC>ccT	p.P142P		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	142						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						TGGCAGCACCCCAGAGTTACC	0.602000													16	95					0	0	0.004007	0	0
APOB	338	broad.mit.edu	37	2	21245798	21245798	+	Silent	SNP	G	G	A	rs72653068		TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:21245798G>A	ENST00000233242.1	-	18	2848	c.2721C>T	c.(2719-2721)caC>caT	p.H907H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	907	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACCCGACTCGTGGAAGAAGT	0.507000													9	68					0	0	0.008291	0	0
PHKA2	5256	broad.mit.edu	37	X	18944628	18944628	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:18944628T>G	ENST00000379942.4	-	14	2067	c.1402A>C	c.(1402-1404)Att>Ctt	p.I468L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	468					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ATTGGATGAATGTCCGCGATA	0.463000													9	171					0	0	0.008291	0	0
C22orf42	150297	broad.mit.edu	37	22	32555049	32555049	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr22:32555049C>A	ENST00000382097.3	-	1	226	c.154G>T	c.(154-156)Gat>Tat	p.D52Y		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	52										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GCTTTCAAATCCAATTTGGCA	0.542000													9	161					4.3838e-07	5.47975e-07	0.001855	1	0
CACNG3	10368	broad.mit.edu	37	16	24372717	24372717	+	Missense_Mutation	SNP	G	G	T	rs140935639	byFrequency	TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr16:24372717G>T	ENST00000005284.3	+	4	1683	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	161					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATCAGCCAACGCCGGAGACCC	0.443000													8	143					0.00621372	0.00694585	0.006214	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497614	1497614	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr8:1497614A>G	ENST00000421627.2	+	2	889	c.755A>G	c.(754-756)cAg>cGg	p.Q252R		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	331					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GACGCGCTGCAGAGCCCCTTC	0.667000													16	88					0	0	0.007413	0	0
PDZD4	57595	broad.mit.edu	37	X	153069120	153069120	+	Silent	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:153069120C>T	ENST00000164640.4	-	8	2189	c.1998G>A	c.(1996-1998)gcG>gcA	p.A666A	PDZD4_ENST00000393758.2_Silent_p.A591A|PDZD4_ENST00000544474.1_Silent_p.A557A	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	666						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCGCTCACCGCGTCGTCGT	0.667000													5	101					0	0	0.001984	0	0
SPIN2B	474343	broad.mit.edu	37	X	57146385	57146385	+	Silent	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:57146385G>C	ENST00000333933.3	-	2	988	c.678C>G	c.(676-678)ggC>ggG	p.G226G	SPIN2B_ENST00000460948.1_Intron|SPIN2B_ENST00000275988.5_Silent_p.G226G|SPIN2B_ENST00000374912.5_Silent_p.G226G|SPIN2B_ENST00000374910.3_Silent_p.G125G	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	226					apoptosis|cell cycle|gamete generation	nucleus				endometrium(3)|large_intestine(1)|skin(1)	5						GAATGACCATGCCGATCCTTT	0.438000													15	117					0	0	0.006122	0	0
SPRR2F	6705	broad.mit.edu	37	1	153085023	153085023	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:153085023A>T	ENST00000468739.1	-	2	247	c.187T>A	c.(187-189)Tgc>Agc	p.C63S	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	63					keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTTGGCTGGCAGGGTGGGGAA	0.557000													24	357					0	0	0.002096	0	0
IGKV6-21	28906	broad.mit.edu	37	2	89459249	89459249	+	RNA	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:89459249T>C	ENST00000390256.2	-	0	391																											AAACTACTACTCTGATGACAG	0.468000													18	170					0	0	0.007413	0	0
CD200R1	131450	broad.mit.edu	37	3	112666754	112666754	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:112666754G>C	ENST00000308611.3	-	2	349	c.85C>G	c.(85-87)Caa>Gaa	p.Q29E	CD200R1_ENST00000490004.1_Intron|CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000440122.2_Missense_Mutation_p.Q29E|CD200R1_ENST00000471858.1_Intron	NM_138806.3	NP_620161.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	22					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TTGTTTGGTTGAGCAGCACCC	0.368000													4	63					0	0	0.000602	0	0
NDST2	8509	broad.mit.edu	37	10	75565474	75565474	+	Silent	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr10:75565474T>C	ENST00000299641.4	-	9	2218	c.1248A>G	c.(1246-1248)ctA>ctG	p.L416L	NDST2_ENST00000309979.6_Silent_p.L539L	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	539	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CAAAGGTGTATAGGCCCAGCC	0.517000													5	50					0	0	0.001168	0	0
GCFC2	6936	broad.mit.edu	37	2	75928338	75928338	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:75928338C>T	ENST00000321027.3	-	4	828	c.695G>A	c.(694-696)aGg>aAg	p.R232K	GCFC2_ENST00000409857.3_Missense_Mutation_p.R194K|GCFC2_ENST00000541687.1_Missense_Mutation_p.R232K	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	232					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										AACTGCTTTCCTCATTTGCTG	0.358000													3	40					0	0	0.000248	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	155					0	0	0.000248	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249558	71249558	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:71249558T>A	ENST00000398534.3	+	1	488	c.457T>A	c.(457-459)Tgc>Agc	p.C153S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	153	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TAAGCCCTGCTGCTGCTCTTC	0.602000													5	414					0	0	0.001168	0	0
BMX	660	broad.mit.edu	37	X	15574209	15574209	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:15574209G>A	ENST00000357607.2	+	19	2155	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H	BMX_ENST00000348343.6_Missense_Mutation_p.R656H|BMX_ENST00000342014.6_Missense_Mutation_p.R656H			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	656	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CCAGAAAAGCGTCCCACATTT	0.333000													7	218					0	0	0.004482	0	0
SNX13	23161	broad.mit.edu	37	7	17879517	17879517	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:17879517C>G	ENST00000409389.1	-	13	1444	c.1272G>C	c.(1270-1272)caG>caC	p.Q424H	SNX13_ENST00000428135.3_Missense_Mutation_p.Q424H			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	424	RGS.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TTCCATCTCTCTGACGACTTA	0.418000													5	37					0	0	0.000602	0	0
GPR101	83550	broad.mit.edu	37	X	136113001	136113001	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:136113001T>G	ENST00000298110.1	-	1	832	c.833A>C	c.(832-834)gAa>gCa	p.E278A		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	278						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GTCCTTGGCTTCCATTCTGCC	0.592000													4	168					0	0	0.000248	0	0
FAM46C	54855	broad.mit.edu	37	1	118166407	118166407	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:118166407A>G	ENST00000369448.3	+	2	1164	c.917A>G	c.(916-918)tAc>tGc	p.Y306C		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	306										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AAGTACGACTACCTCATGATC	0.527000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			3	64					0	0	0.000248	0	0
MPPED2	744	broad.mit.edu	37	11	30433117	30433117	+	Silent	SNP	G	G	A	rs142670850		TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:30433117G>A	ENST00000358117.5	-	6	905	c.783C>T	c.(781-783)acC>acT	p.T261T	MPPED2_ENST00000448418.2_Intron|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	261					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TGTAACCGTCGGTCATGATGC	0.453000													5	49					0	0	0.001984	0	0
CCDC65	85478	broad.mit.edu	37	12	49312207	49312207	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:49312207G>A	ENST00000266984.5	+	5	986	c.759G>A	c.(757-759)aaG>aaA	p.K253K	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.K253K			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	253										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGGATGAGAAGAGCTCCAAAG	0.433000													5	65					0	0	0.001984	0	0
TMEM202	338949	broad.mit.edu	37	15	72690674	72690674	+	Nonsense_Mutation	SNP	C	C	T	rs143325433		TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr15:72690674C>T	ENST00000341689.3	+	1	61	c.7C>T	c.(7-9)Cga>Tga	p.R3*	TMEM202_ENST00000567679.1_Nonsense_Mutation_p.R3*	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	3						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAAGATGGAGCGAAGGGAACA	0.473000													3	17					0	0	0.004672	0	0
ASXL3	80816	broad.mit.edu	37	18	31319655	31319655	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr18:31319655A>G	ENST00000269197.5	+	11	2287	c.2287A>G	c.(2287-2289)Aga>Gga	p.R763G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	763	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATAAATGAGAGAATGGCACA	0.463000													5	62					0	0	0.001168	0	0
VAV3	10451	broad.mit.edu	37	1	108507399	108507399	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:108507399G>T	ENST00000370056.4	-	1	367	c.93C>A	c.(91-93)ttC>ttA	p.F31L	VAV3-AS1_ENST00000438318.1_RNA|VAV3_ENST00000371846.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.F31L	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	31	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GCGCAAGGTCGAACACCTGAG	0.637000													3	33					0.000602214	0.0007029	0.000602	1	0
GALR1	2587	broad.mit.edu	37	18	74968163	74968163	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr18:74968163A>C	ENST00000299727.3	+	2	716	c.716A>C	c.(715-717)gAa>gCa	p.E239A	GALR1_ENST00000582943.1_3'UTR	NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	239					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		AAGAAGTCTGAAGCATCCAAG	0.353000													8	70					0	0	0.006214	0	0
COL16A1	1307	broad.mit.edu	37	1	32126203	32126203	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:32126203C>T	ENST00000373672.3	-	62	4378	c.3862G>A	c.(3862-3864)Ggt>Agt	p.G1288S	COL16A1_ENST00000271069.6_Missense_Mutation_p.G1288S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1288	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCCGGGGGACCGGGTCTTCCC	0.537000													5	93					0	0	0.001168	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971406	101971406	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:101971406G>A	ENST00000543253.1	+	5	2528	c.1609G>A	c.(1609-1611)Gga>Aga	p.G537R	GPRASP2_ENST00000332262.5_Missense_Mutation_p.G537R|GPRASP2_ENST00000535209.1_Missense_Mutation_p.G537R	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TAGCCCAGAAGGAGAAGAGCA	0.507000													4	106					0	0	0.000602	0	0
FRAS1	80144	broad.mit.edu	37	4	79440630	79440630	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr4:79440630G>A	ENST00000264895.6	+	67	10975	c.10535G>A	c.(10534-10536)aGa>aAa	p.R3512K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3507					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTCTCTGGAGAACAGGTATG	0.468000													11	162					0	0	0.001368	0	0
MS4A12	54860	broad.mit.edu	37	11	60269468	60269468	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:60269468G>T	ENST00000016913.4	+	4	484	c.427G>T	c.(427-429)Ggc>Tgc	p.G143C	MS4A12_ENST00000537076.1_Missense_Mutation_p.G97C	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	143						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TATTATCTCTGGCTCTCTCTC	0.373000													19	157					5.35356e-11	7.20297e-11	0.002780	1	0
DSC1	1823	broad.mit.edu	37	18	28710644	28710644	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr18:28710644G>C	ENST00000257198.5	-	16	2779	c.2518C>G	c.(2518-2520)Cat>Gat	p.H840D	DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	840					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CAATGTTTATGCTCCTCATCT	0.388000													4	81					0	0	0.000248	0	0
HPN	3249	broad.mit.edu	37	19	35556931	35556931	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr19:35556931A>G	ENST00000262626.2	+	12	2035	c.1210A>G	c.(1210-1212)Ata>Gta	p.I404V	HPN_ENST00000392226.1_Missense_Mutation_p.I404V|HPN_ENST00000597419.1_Missense_Mutation_p.I246V|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	404	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CTTCCAGGCCATAAAGGTGAA	0.562000													9	115					0	0	0.006214	0	0
DYDC1	143241	broad.mit.edu	37	10	82112230	82112230	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr10:82112230T>A	ENST00000421924.2	-	2	539	c.128A>T	c.(127-129)aAt>aTt	p.N43I	DYDC2_ENST00000372197.1_Intron|DYDC2_ENST00000372199.1_5'UTR|DYDC1_ENST00000372202.1_Missense_Mutation_p.N43I|DYDC1_ENST00000372204.3_Missense_Mutation_p.N43I|DYDC2_ENST00000372198.1_Intron			Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	43										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			CATGGTCACATTTTCCTTATA	0.378000													6	23					0	0	0.001984	0	0
C1orf94	84970	broad.mit.edu	37	1	34663427	34663427	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:34663427C>T	ENST00000488417.1	+	2	1042	c.922C>T	c.(922-924)Cct>Tct	p.P308S	C1orf94_ENST00000373374.3_Missense_Mutation_p.P118S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	118							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCCTGAGCTCCCTGCTCAGAA	0.617000													4	59					0	0	0.000248	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24980012	24980012	+	Silent	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr16:24980012C>T	ENST00000289968.6	-	5	423	c.354G>A	c.(352-354)gaG>gaA	p.E118E	ARHGAP17_ENST00000303665.5_Silent_p.E118E|ARHGAP17_ENST00000441763.2_Silent_p.E118E|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	118	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGTCCACGATCTCCTTCTCAA	0.532000													12	135					0	0	0.004007	0	0
SMARCA1	6594	broad.mit.edu	37	X	128582330	128582330	+	Silent	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:128582330G>T	ENST00000371122.4	-	24	3250	c.3121C>A	c.(3121-3123)Cgg>Agg	p.R1041R	SMARCA1_ENST00000371121.3_Silent_p.R1029R|SMARCA1_ENST00000371123.1_Silent_p.R1029R	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	1041					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTAGTTGCCCGTTTCTTCTTT	0.318000													9	70					0.00448238	0.00505634	0.004482	1	0
ZIC4	84107	broad.mit.edu	37	3	147108886	147108886	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:147108886C>G	ENST00000383075.3	-	4	1348	c.836G>C	c.(835-837)aGc>aCc	p.S279T	ZIC4_ENST00000425731.3_Missense_Mutation_p.S317T|ZIC4_ENST00000484399.1_Missense_Mutation_p.S279T|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.S73T|ZIC4_ENST00000473123.1_Missense_Mutation_p.S279T|ZIC4_ENST00000525172.2_Missense_Mutation_p.S329T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	279						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ACGCAGCGAGCTGGGGTGCGT	0.642000													6	34					0	0	0.001984	0	0
GPR133	283383	broad.mit.edu	37	12	131561418	131561418	+	Splice_Site	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:131561418A>T	ENST00000261654.5	+	14	2105	c.1547_splice	c.e14+1	p.S516_splice	GPR133_ENST00000376682.4_Splice_Site_p.S202_splice|GPR133_ENST00000543617.1_Splice_Site_p.S35_splice|GPR133_ENST00000535015.1_Splice_Site_p.S548_splice	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	516	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCTGGACTTCAGGTACCCTCT	0.587000													4	88					0	0	0.000602	0	0
CEACAM18	729767	broad.mit.edu	37	19	51983917	51983917	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr19:51983917G>T	ENST00000396477.4	+	2	404	c.383G>T	c.(382-384)gGc>gTc	p.G128V	CEACAM18_ENST00000451626.1_Missense_Mutation_p.G189V	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	189						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGAGCAACCGGCTGGCTGGAG	0.512000													5	68					5.18039e-06	6.34684e-06	0.003080	1	0
ADAM22	53616	broad.mit.edu	37	7	87607717	87607717	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:87607717G>T	ENST00000398204.4	+	3	636	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	ADAM22_ENST00000439864.1_Missense_Mutation_p.V105L|ADAM22_ENST00000398201.4_Missense_Mutation_p.V105L|ADAM22_ENST00000265727.7_Missense_Mutation_p.V105L|ADAM22_ENST00000398209.3_Missense_Mutation_p.V105L|ADAM22_ENST00000315984.7_Missense_Mutation_p.V105L	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	105					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TCTCGATGTCGTGCTAAATCA	0.333000													13	70					6.72482e-11	9.01516e-11	0.003163	1	0
POM121L12	285877	broad.mit.edu	37	7	53104220	53104220	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:53104220G>A	ENST00000408890.4	+	1	872	c.856G>A	c.(856-858)Gag>Aag	p.E286K		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	286										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTTCGCCCTCGAGGTCACCCA	0.622000													8	62					0	0	0.004482	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667876	106667876	+	RNA	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:106667876C>T	ENST00000390606.2	-	0	117																											CTGCACCTCACACTGGACACC	0.532000													25	73					0	0	0.003954	0	0
SALL1	6299	broad.mit.edu	37	16	51175080	51175080	+	Silent	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr16:51175080C>T	ENST00000440970.1	-	2	1193	c.762G>A	c.(760-762)ccG>ccA	p.P254P	SALL1_ENST00000251020.4_Silent_p.P351P|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	351					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P351P(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTCAGAGGACGGGGTGGTAA	0.507000													4	79					0	0	0.000248	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458668	90458668	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:90458668C>A	ENST00000603238.1	+	2	344	c.344C>A	c.(343-345)cCt>cAt	p.115_115insH																								GACAGTACCCCTCCCACAGCG	0.512000													7	593					1.76689e-08	2.27788e-08	0.006214	1	0
AMMECR1	9949	broad.mit.edu	37	X	109561258	109561258	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:109561258G>A	ENST00000262844.5	-	1	209	c.42C>T	c.(40-42)tcC>tcT	p.S14S	AMMECR1_ENST00000372059.2_Silent_p.S14S|AMMECR1_ENST00000372057.1_Intron	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	14										large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGGGCGAACTGGACAGTTTCT	0.672000													5	34					0	0	0.003080	0	0
EPHA10	284656	broad.mit.edu	37	1	38227066	38227066	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:38227066C>A	ENST00000319637.6	-	3	927	c.861G>T	c.(859-861)ttG>ttT	p.L287F	EPHA10_ENST00000427468.2_Intron|EPHA10_ENST00000373048.4_Intron	NM_173641.2	NP_775912.2	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	0						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCCCCAGCCAACTGGATAC	0.667000													10	150					5.50884e-06	6.72696e-06	0.001368	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47117317	47117317	+	Splice_Site	SNP	A	A	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr17:47117317A>C	ENST00000290341.3	+	7	1017		c.e7-1		IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1						CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGTGGCCCCCAGGATAGACGT	0.557000													24	55					0	0	0.005443	0	0
CYP4F12	66002	broad.mit.edu	37	19	15789145	15789145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr19:15789145G>A	ENST00000550308.1	+	3	653	c.273G>A	c.(271-273)tgG>tgA	p.W91*	CYP4F12_ENST00000324632.9_Nonsense_Mutation_p.W91*	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TTACGATATGGCTGGGTCCCA	0.542000													8	139					0	0	0.008291	0	0
OR5K1	26339	broad.mit.edu	37	3	98188893	98188893	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:98188893T>A	ENST00000332650.5	+	1	570	c.473T>A	c.(472-474)aTt>aAt	p.I158N		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATTCCATGATTCATGTAGGG	0.428000													18	176					0	0	0.008871	0	0
IQCB1	9657	broad.mit.edu	37	3	121547451	121547451	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:121547451G>A	ENST00000310864.6	-	4	343	c.129C>T	c.(127-129)agC>agT	p.S43S	IQCB1_ENST00000349820.6_Silent_p.S43S	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	43					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCAACTCTGAGCTTCCTAAAG	0.308000													5	29					0	0	0.001168	0	0
ERMN	57471	broad.mit.edu	37	2	158182024	158182024	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:158182024C>T	ENST00000410096.1	-	1	422	c.131G>A	c.(130-132)aGg>aAg	p.R44K	ERMN_ENST00000397283.2_Missense_Mutation_p.R57K|ERMN_ENST00000420719.2_Missense_Mutation_p.R44K|ERMN_ENST00000409216.1_Missense_Mutation_p.R44K|ERMN_ENST00000409925.1_Missense_Mutation_p.R44K	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	44						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						GGGTTCTACCCTGTAGTGTGG	0.468000													8	104					0	0	0.008291	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830571	7830571	+	Missense_Mutation	SNP	G	G	A	rs142098305	by1000genomes	TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr19:7830571G>A	ENST00000327325.5	+	4	380	c.262G>A	c.(262-264)Gca>Aca	p.A88T	CLEC4M_ENST00000394122.2_Missense_Mutation_p.A76T|CLEC4M_ENST00000596707.1_Missense_Mutation_p.A67T|CLEC4M_ENST00000359059.5_Missense_Mutation_p.A67T|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A60T|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A88T|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A88T|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A60T|CLEC4M_ENST00000597522.1_Missense_Mutation_p.A88T|CLEC4M_ENST00000595496.1_Missense_Mutation_p.A67T	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	88					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CGAGCAAGACGCAATCTACCA	0.517000													4	103					0	0	0.000602	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18123402	18123402	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr20:18123402A>T	ENST00000278816.2	+	2	748	c.98A>T	c.(97-99)gAg>gTg	p.E33V	CSRP2BP_ENST00000604915.1_Missense_Mutation_p.E33V|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.E33V|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.E33V|PET117_ENST00000432901.2_3'UTR			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	33					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GGTGAAGTGGAGGGAGAGACG	0.542000													9	71					0	0	0.008291	0	0
PLEK	5341	broad.mit.edu	37	2	68608012	68608012	+	Missense_Mutation	SNP	G	G	C	rs144599110		TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:68608012G>C	ENST00000234313.7	+	3	535	c.356G>C	c.(355-357)cGa>cCa	p.R119P		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	119					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGGTCCATTCGACTGCCAGAA	0.458000													7	214					0	0	0.006214	0	0
CCNB3	85417	broad.mit.edu	37	X	50053715	50053715	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:50053715G>A	ENST00000376042.1	+	6	2844	c.2546G>A	c.(2545-2547)aGt>aAt	p.S849N	CCNB3_ENST00000276014.7_Missense_Mutation_p.S849N|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	849					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAGGAGCCCAGTGTTGACACA	0.532000													4	20					0	0	0.000248	0	0
MIR518D	574489	broad.mit.edu	37	19	54238177	54238177	+	RNA	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr19:54238177A>T	ENST00000385014.1	+	0	47					NR_030211.1																						GTTGTCTGAAAGAAACCAAAG	0.438000													7	78					0	0	0.003080	0	0
KRT71	112802	broad.mit.edu	37	12	52946759	52946759	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:52946759C>T	ENST00000267119.5	-	1	172	c.103G>A	c.(103-105)Ggg>Agg	p.G35R		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	35	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCTTTGCTCCCTGCCCGGAAG	0.667000													12	148					0	0	0.002450	0	0
FABP1	2168	broad.mit.edu	37	2	88424034	88424034	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:88424034G>A	ENST00000393750.3	-	3	343	c.312C>T	c.(310-312)ctC>ctT	p.L104L	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Silent_p.L104L			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	104					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TGTCGCCGTTGAGTTCGGTCA	0.522000													4	85					0	0	0.000602	0	0
SYNM	23336	broad.mit.edu	37	15	99669782	99669782	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr15:99669782C>T	ENST00000336292.6	+	5	1334	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Missense_Mutation_p.S120L|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Missense_Mutation_p.S405L	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	406	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TATTCTTCCTCGGCCACTACC	0.502000													11	249					0	0	0.001368	0	0
C20orf24	55969	broad.mit.edu	37	20	35240519	35240519	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr20:35240519C>G	ENST00000342422.3	+	3	455	c.325C>G	c.(325-327)Ctt>Gtt	p.L109V	C20orf24_ENST00000344795.3_3'UTR|C20orf24_ENST00000373852.5_3'UTR|TGIF2-C20orf24_ENST00000558530.1_3'UTR	NM_199483.2	NP_955777.1			chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGCACAGGAACTTGATCGTTG	0.507000													5	360					0	0	0.000602	0	0
NYAP2	57624	broad.mit.edu	37	2	226446843	226446843	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:226446843A>G	ENST00000272907.6	+	4	1123	c.710A>G	c.(709-711)gAc>gGc	p.D237G	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	237																	CCCGCGGGAGACCCCGAGGAA	0.597000													9	91					0	0	0.006214	0	0
RBM28	55131	broad.mit.edu	37	7	127964664	127964664	+	Silent	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:127964664C>A	ENST00000223073.1	-	12	1401	c.1287G>T	c.(1285-1287)acG>acT	p.T429T	RBM28_ENST00000415472.2_Silent_p.T288T	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	429					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCTTCACCTTCGTCGTCTGAA	0.562000													22	255					1.85244e-09	2.43051e-09	0.003330	1	0
RGAG1	57529	broad.mit.edu	37	X	109694746	109694746	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:109694746G>T	ENST00000465301.2	+	3	1147	c.901G>T	c.(901-903)Gat>Tat	p.D301Y	RGAG1_ENST00000540313.1_Missense_Mutation_p.D301Y	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	301										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCTCATGTCAGATCTAGACTC	0.478000													18	191					9.7654e-05	0.00011618	0.007413	1	0
HSD3B2	3284	broad.mit.edu	37	1	119965152	119965152	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:119965152A>G	ENST00000543831.1	+	4	1277	c.1028A>G	c.(1027-1029)tAc>tGc	p.Y343C	HSD3B2_ENST00000369416.3_Missense_Mutation_p.Y343C	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	343					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	AAGCCACTCTACAGCTGGGAG	0.502000													4	52					0	0	0.000248	0	0
EGR3	1960	broad.mit.edu	37	8	22548112	22548112	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr8:22548112G>C	ENST00000317216.2	-	2	1395	c.1038C>G	c.(1036-1038)gaC>gaG	p.D346E	EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.D308E|EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	346					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GCTTGCGCTCGTCGCTGCGCG	0.652000													10	48					0	0	0.001855	0	0
RC3H1	149041	broad.mit.edu	37	1	173930982	173930982	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:173930982C>T	ENST00000367696.2	-	12	2434	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K	RC3H1_ENST00000258349.4_Missense_Mutation_p.E695K|RC3H1_ENST00000367694.2_Missense_Mutation_p.E695K			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	695	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGTGGAATCTCAATGGGTATA	0.473000													23	238					0	0	0.003954	0	0
SERPINE1	5054	broad.mit.edu	37	7	100771931	100771931	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:100771931G>C	ENST00000223095.4	+	2	414	c.257G>C	c.(256-258)gGa>gCa	p.G86A	SERPINE1_ENST00000445463.2_Missense_Mutation_p.G71A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	86					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.G86V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GCAGCTATGGGATTCAAGATT	0.572000													6	72					0	0	0.003080	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725572	32725572	+	Silent	SNP	G	G	A	rs116284473	byFrequency	TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr6:32725572G>A	ENST00000435145.2	-	4	796	c.735C>T	c.(733-735)atC>atT	p.I245I	HLA-DQB2_ENST00000437316.2_Silent_p.I245I|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGTGACGGATGATAAGGCCCA	0.557000													4	40					0	0	0.000248	0	0
TBC1D2	55357	broad.mit.edu	37	9	100995710	100995710	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr9:100995710C>A	ENST00000375066.5	-	4	860	c.769G>T	c.(769-771)Gcc>Tcc	p.A257S	TBC1D2_ENST00000375064.1_Missense_Mutation_p.A257S|TBC1D2_ENST00000342112.5_Missense_Mutation_p.A39S	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	257						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GGGGTGCTGGCGTCAGAGGCC	0.627000													3	31					0.004672	0.0052383	0.004672	1	0
RYR2	6262	broad.mit.edu	37	1	237777522	237777522	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:237777522G>A	ENST00000366574.2	+	37	5411	c.5094G>A	c.(5092-5094)ctG>ctA	p.L1698L	RYR2_ENST00000360064.6_Silent_p.L1696L|RYR2_ENST00000542537.1_Silent_p.L1682L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1698	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGGTTTGCTGCGTGCTGGCT	0.552000													5	32					0	0	0.000602	0	0
TSPAN3	10099	broad.mit.edu	37	15	77348493	77348493	+	Silent	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr15:77348493C>A	ENST00000267970.4	-	2	441	c.168G>T	c.(166-168)gtG>gtT	p.V56V	TSPAN3_ENST00000558745.1_5'UTR|TSPAN3_ENST00000558394.1_5'UTR|TSPAN3_ENST00000346495.2_Silent_p.V56V|TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000424443.3_Intron|TSPAN3_ENST00000561277.1_5'UTR	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	56						integral to membrane				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		CAGCTATGATCACTACAGCAG	0.478000													32	98					9.04072e-19	1.24816e-18	0.003271	1	0
SHROOM3	57619	broad.mit.edu	37	4	77661790	77661790	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr4:77661790G>C	ENST00000296043.6	+	5	3417	c.2464G>C	c.(2464-2466)Ggg>Cgg	p.G822R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	822					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.G821W(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGTACTTCTGGGAATGACTT	0.547000													4	89					0	0	0.000602	0	0
FN1	2335	broad.mit.edu	37	2	216262528	216262528	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:216262528A>C	ENST00000354785.4	-	22	3761	c.3392T>G	c.(3391-3393)gTg>gGg	p.V1131G	FN1_ENST00000357867.4_Missense_Mutation_p.V1131G|FN1_ENST00000357009.2_Missense_Mutation_p.V1131G|FN1_ENST00000356005.4_Missense_Mutation_p.V1131G|FN1_ENST00000346544.3_Missense_Mutation_p.V1131G|FN1_ENST00000421182.1_Missense_Mutation_p.V1131G|FN1_ENST00000345488.5_Missense_Mutation_p.V1131G|FN1_ENST00000336916.4_Missense_Mutation_p.V1131G|FN1_ENST00000323926.6_Missense_Mutation_p.V1131G|FN1_ENST00000359671.1_Missense_Mutation_p.V1131G|FN1_ENST00000446046.1_Missense_Mutation_p.V1131G|FN1_ENST00000443816.1_Missense_Mutation_p.V1131G|FN1_ENST00000432072.2_Missense_Mutation_p.V1131G			P02751	FINC_HUMAN	fibronectin 1	1131	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTGAAGTCACTTCTCGTGG	0.502000													5	87					0	0	0.001168	0	0
SLC22A16	85413	broad.mit.edu	37	6	110768092	110768092	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr6:110768092C>G	ENST00000368919.3	-	3	701	c.635G>C	c.(634-636)cGc>cCc	p.R212P	SLC22A16_ENST00000330550.4_Missense_Mutation_p.R178P|SLC22A16_ENST00000439654.1_Missense_Mutation_p.R212P|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	212					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		AAGAAAAAAGCGAGCAGCCAT	0.423000													5	58					0	0	0.001168	0	0
OR4M2	390538	broad.mit.edu	37	15	22369371	22369371	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr15:22369371T>A	ENST00000332663.2	+	1	894	c.796T>A	c.(796-798)Tcg>Acg	p.S266T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCCATTTGACTCGTTTTCCCT	0.413000													6	83					0	0	0.003080	0	0
FAM117A	81558	broad.mit.edu	37	17	47799892	47799892	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr17:47799892G>A	ENST00000240364.2	-	3	510	c.431C>T	c.(430-432)gCa>gTa	p.A144V	FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	144										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GCCCCAGGATGCTGAGCGCTT	0.572000													3	20					0	0	0.000248	0	0
SI	6476	broad.mit.edu	37	3	164725752	164725752	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:164725752G>T	ENST00000264382.3	-	36	4276	c.4214C>A	c.(4213-4215)aCa>aAa	p.T1405K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1405	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATTAGTAGTTGTTCCATTTAC	0.279000										HNSCC(35;0.089)			27	82					5.8336e-16	7.9942e-16	0.003271	1	0
DNAH5	1767	broad.mit.edu	37	5	13786444	13786444	+	Silent	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr5:13786444C>T	ENST00000265104.4	-	52	8768	c.8664G>A	c.(8662-8664)gaG>gaA	p.E2888E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2888					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGCATCAGCCTCTTCAGATG	0.363000									Kartagener syndrome				5	38					0	0	0.001168	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282224	23282224	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:23282224C>A	ENST00000397532.3	-	2	909	c.384G>T	c.(382-384)gaG>gaT	p.E128D	SLC7A7_ENST00000397529.2_Missense_Mutation_p.E128D|SLC7A7_ENST00000555702.1_Missense_Mutation_p.E128D|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000397528.4_Missense_Mutation_p.E128D|SLC7A7_ENST00000285850.7_Missense_Mutation_p.E128D			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	128					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GGCTGGTGGGCTCAATGATGA	0.557000													8	134					2.17888e-05	2.64323e-05	0.006214	1	0
FAM169A	26049	broad.mit.edu	37	5	74137430	74137430	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr5:74137430C>T	ENST00000389156.4	-	2	162	c.72G>A	c.(70-72)atG>atA	p.M24I	FAM169A_ENST00000380515.3_Missense_Mutation_p.M24I|FAM169A_ENST00000510496.1_Missense_Mutation_p.M24I	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	24										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TTAAATCTGACATGTAATCTT	0.393000													16	55					0	0	0.006122	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													3	48					0	0	0.000248	0	0
ESPL1	9700	broad.mit.edu	37	12	53684209	53684209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:53684209C>T	ENST00000257934.4	+	24	5411	c.5320C>T	c.(5320-5322)Cga>Tga	p.R1774*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.R1774*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1774					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TACTGACAAGCGAGAATGGTG	0.577000													11	90					0	0	0.001368	0	0
MCF2	4168	broad.mit.edu	37	X	138714571	138714571	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:138714571G>T	ENST00000520602.1	-	5	559	c.274C>A	c.(274-276)Cct>Act	p.P92T	MCF2_ENST00000536274.1_Missense_Mutation_p.P32T|MCF2_ENST00000370573.4_Missense_Mutation_p.P32T|MCF2_ENST00000414978.1_Missense_Mutation_p.P92T|MCF2_ENST00000370578.4_Missense_Mutation_p.P177T|MCF2_ENST00000370576.4_Missense_Mutation_p.P32T|MCF2_ENST00000519895.1_Missense_Mutation_p.P92T|MCF2_ENST00000338585.6_Missense_Mutation_p.P32T			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	32					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAGCTGGTAGGACGTAAAACC	0.358000													6	77					2.7689e-08	3.54495e-08	0.001984	1	0
DSP	1832	broad.mit.edu	37	6	7571787	7571787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr6:7571787C>T	ENST00000379802.3	+	14	2214	c.1873C>T	c.(1873-1875)Cag>Tag	p.Q625*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q625*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	625	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCTGGTCATTCAGCTCCCTGG	0.468000													11	76					0	0	0.002450	0	0
LRRK2	120892	broad.mit.edu	37	12	40688716	40688716	+	Splice_Site	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:40688716A>T	ENST00000298910.7	+	22	2936	c.2878_splice	c.e22+1	p.R960_splice	LRRK2_ENST00000343742.2_Splice_Site_p.R960_splice	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	960					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGATTCACTCAGTAAGTATTT	0.289000													4	69					0	0	0.000602	0	0
ATRNL1	26033	broad.mit.edu	37	10	117001358	117001358	+	Splice_Site	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr10:117001358A>G	ENST00000355044.3	+	10	1658		c.e10-1			NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1							integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTATTCTGTAGGACTATTTT	0.328000													5	51					0	0	0.001168	0	0
GALC	2581	broad.mit.edu	37	14	88416221	88416221	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:88416221T>A	ENST00000261304.2	-	12	1412	c.1306A>T	c.(1306-1308)Aga>Tga	p.R436*	GALC_ENST00000393569.2_Nonsense_Mutation_p.R410*|GALC_ENST00000544807.2_Nonsense_Mutation_p.R380*|GALC_ENST00000393568.4_Nonsense_Mutation_p.R413*	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	436					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAAGAAATCTTTCGGATGTT	0.338000													9	104					0	0	0.006214	0	0
OR2M7	391196	broad.mit.edu	37	1	248487753	248487753	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:248487753T>A	ENST00000317965.2	-	1	146	c.118A>T	c.(118-120)Atg>Ttg	p.M40L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGTTTCCCATGAAGGCCACT	0.527000													29	259					0	0	0.001786	0	0
KCTD16	57528	broad.mit.edu	37	5	143853425	143853425	+	Silent	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr5:143853425C>T	ENST00000507359.2	+	3	2126	c.1035C>T	c.(1033-1035)ccC>ccT	p.P345P	KCTD16_ENST00000512467.1_Silent_p.P345P	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	345						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGGACCGTCCCATCAAGAAGG	0.582000													12	58					0	0	0.002450	0	0
SMC1A	8243	broad.mit.edu	37	X	53432207	53432207	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:53432207C>G	ENST00000322213.4	-	12	2155	c.2028G>C	c.(2026-2028)gaG>gaC	p.E676D	SMC1A_ENST00000375340.6_Missense_Mutation_p.E442D	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	676					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCTCCTTCTTCTCTTTCAACT	0.537000													9	35					0	0	0.008291	0	0
SYDE2	84144	broad.mit.edu	37	1	85648436	85648436	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:85648436G>C	ENST00000341460.5	-	3	1938	c.1889C>G	c.(1888-1890)aCa>aGa	p.T630R		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	630					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AGCTTTAGTTGTAAGTTCAGG	0.358000													6	32					0	0	0.001984	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31709022	31709022	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr6:31709022C>T	ENST00000493662.2	+	3	286	c.230C>T	c.(229-231)cCa>cTa	p.P77L	MSH5_ENST00000375755.3_Missense_Mutation_p.P77L|MSH5_ENST00000375703.3_Missense_Mutation_p.P77L|MSH5_ENST00000375740.3_Missense_Mutation_p.P77L|MSH5_ENST00000375742.3_Missense_Mutation_p.P77L|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000534153.4_Missense_Mutation_p.P77L|MSH5_ENST00000375750.3_Missense_Mutation_p.P77L																							CACTTCATGCCAGATGCCCCA	0.498000													15	171					0	0	0.002450	0	0
OR2T6	254879	broad.mit.edu	37	1	248551699	248551699	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:248551699T>C	ENST00000355728.2	+	1	790	c.790T>C	c.(790-792)Tct>Cct	p.S264P		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTTCCCCAATCTTACCACAC	0.478000													6	70					0	0	0.001168	0	0
HCRTR2	3062	broad.mit.edu	37	6	55145140	55145140	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr6:55145140C>A	ENST00000370862.3	+	6	1339	c.1003C>A	c.(1003-1005)Cat>Aat	p.H335N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	335					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GATGTTTGCCCATACTGAAGA	0.373000													11	131					3.07112e-06	3.77513e-06	0.000978	1	0
PLXNA4	91584	broad.mit.edu	37	7	131878879	131878879	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:131878879C>T	ENST00000359827.3	-	14	3760	c.2798G>A	c.(2797-2799)tGc>tAc	p.C933Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.C933Y			Q9HCM2	PLXA4_HUMAN	plexin A4	933	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACAGCCACGCAGATCTCCAC	0.582000													11	135					0	0	0.001855	0	0
OR4F15	390649	broad.mit.edu	37	15	102358549	102358549	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr15:102358549C>A	ENST00000332238.4	+	1	184	c.160C>A	c.(160-162)Cat>Aat	p.H54N		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CATGGATGCTCATCTGCACTC	0.403000													156	190					8.48856e-70	1.1852e-69	0.003610	1	0
IP6K1	9807	broad.mit.edu	37	3	49765625	49765625	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:49765625C>T	ENST00000321599.4	-	5	1004	c.703G>A	c.(703-705)Gac>Aac	p.D235N	IP6K1_ENST00000468463.1_Missense_Mutation_p.D235N|IP6K1_ENST00000460540.1_Missense_Mutation_p.D70N|IP6K1_ENST00000395238.1_Missense_Mutation_p.D70N	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	235					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GCTGACGCGTCATCGCCATGC	0.617000													13	64					0	0	0.001855	0	0
OR10J1	26476	broad.mit.edu	37	1	159410334	159410334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:159410334C>A	ENST00000423932.3	+	1	823	c.786C>A	c.(784-786)taC>taA	p.Y262*	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	262					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TTGTCCACTACAGCTGTGCCT	0.507000													13	91					1.5739e-10	2.09475e-10	0.004007	1	0
SLC44A3	126969	broad.mit.edu	37	1	95356740	95356740	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:95356740G>A	ENST00000271227.6	+	13	1639	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	SLC44A3_ENST00000467909.1_Missense_Mutation_p.D465N|SLC44A3_ENST00000527077.1_Missense_Mutation_p.D445N|SLC44A3_ENST00000446120.2_Missense_Mutation_p.D477N|SLC44A3_ENST00000529450.1_Missense_Mutation_p.D480N|SLC44A3_ENST00000532427.1_Missense_Mutation_p.D433N|SLC44A3_ENST00000530397.1_3'UTR	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	513						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	ATCAGCAAAAGATGCATTCAA	0.313000													9	90					0	0	0.004482	0	0
LMX1B	4010	broad.mit.edu	37	9	129458702	129458702	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr9:129458702C>T	ENST00000355497.5	+	8	1200	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	LMX1B_ENST00000373474.4_Missense_Mutation_p.S394F|LMX1B_ENST00000425646.2_Missense_Mutation_p.S364F|LMX1B_ENST00000526117.1_Missense_Mutation_p.S387F|LMX1B_ENST00000561065.1_Missense_Mutation_p.S375F	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	371					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CGGCTCTACTCCATGCAGAGT	0.682000									Nail-Patella Syndrome				10	135					0	0	0.002450	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185978	127185978	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:127185978A>T	ENST00000371124.3	-	1	404	c.208T>A	c.(208-210)Ttg>Atg	p.L70M		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	70						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGGTAGTGCAAATGTAGGGCC	0.478000													14	179					0	0	0.001855	0	0
DPEP2	64174	broad.mit.edu	37	16	68021890	68021890	+	Splice_Site	SNP	T	T	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr16:68021890T>A	ENST00000412757.2	-	11	1736	c.1070_splice	c.e11-1	p.K357_splice	DPEP2_ENST00000572888.1_Splice_Site_p.K357_splice|DPEP2_ENST00000393847.1_Splice_Site_p.K357_splice			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	357					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CCTGAGGGAATCTGTGTGGCC	0.562000													4	83					0	0	0.000602	0	0
LPL	4023	broad.mit.edu	37	8	19805713	19805713	+	Silent	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr8:19805713C>A	ENST00000311322.8	+	2	581	c.111C>A	c.(109-111)atC>atA	p.I37I	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	37					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TTATCGACATCGAAAGTAAAT	0.423000													7	131					5.4927e-09	7.15599e-09	0.004482	1	0
PRG2	5553	broad.mit.edu	37	11	57156708	57156708	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:57156708C>A	ENST00000311862.5	-	3	214	c.141G>T	c.(139-141)gaG>gaT	p.E47D	PRG2_ENST00000533605.1_Missense_Mutation_p.E47D|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.E152D|PRG2_ENST00000525955.1_Missense_Mutation_p.E47D	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGGGTCTCCTCCATCTCCT	0.572000													5	80					8.12818e-05	9.70138e-05	0.001984	1	0
SYNE1	23345	broad.mit.edu	37	6	152650896	152650896	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr6:152650896C>G	ENST00000367255.5	-	78	15525	c.14924G>C	c.(14923-14925)gGa>gCa	p.G4975A	SYNE1_ENST00000341594.5_Missense_Mutation_p.G4722A|SYNE1_ENST00000423061.1_Missense_Mutation_p.G4904A|SYNE1_ENST00000265368.4_Missense_Mutation_p.G4975A|SYNE1_ENST00000448038.1_Missense_Mutation_p.G4904A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4975					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.G4975A(2)|p.G4904A(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGGATGTCTCCATCCAGCTC	0.463000										HNSCC(10;0.0054)			10	65					0	0	0.000978	0	0
KMT2E	55904	broad.mit.edu	37	7	104681417	104681417	+	Silent	SNP	A	A	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:104681417A>T	ENST00000334877.4	+	3	552	c.18A>T	c.(16-18)ccA>ccT	p.P6P	KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Silent_p.P6P|KMT2E_ENST00000476671.1_Silent_p.P6P|KMT2E_ENST00000257745.4_Silent_p.P6P					lysine (K)-specific methyltransferase 2E																		TAGTGATCCCATTGGGGGTTG	0.423000													4	97					0	0	0.000602	0	0
HK1	3098	broad.mit.edu	37	10	71158451	71158451	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr10:71158451G>C	ENST00000448642.2	+	22	2970	c.2581G>C	c.(2581-2583)Gtg>Ctg	p.V861L	HK1_ENST00000359426.6_Missense_Mutation_p.V826L|HK1_ENST00000360289.2_Missense_Mutation_p.V814L|HK1_ENST00000298649.3_Missense_Mutation_p.V825L|HK1_ENST00000404387.2_Missense_Mutation_p.V830L			P19367	HXK1_HUMAN	hexokinase 1	826	Catalytic.|Glucose-6-phosphate 2 binding.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GTGCGGGGTGGTGTCCAGGAG	0.592000													7	38					0	0	0.001984	0	0
NTRK2	4915	broad.mit.edu	37	9	87549173	87549173	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr9:87549173G>C	ENST00000376214.1	+	17	2668	c.1730G>C	c.(1729-1731)tGt>tCt	p.C577S	NTRK2_ENST00000277120.3_Missense_Mutation_p.C577S|NTRK2_ENST00000376213.1_Missense_Mutation_p.C561S|NTRK2_ENST00000323115.4_Missense_Mutation_p.C561S	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	561	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TATAACCTCTGTCCTGAGCAG	0.433000										TSP Lung(25;0.17)			4	50					0	0	0.000602	0	0
MTA1	9112	broad.mit.edu	37	14	105911820	105911820	+	Silent	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:105911820C>T	ENST00000331320.7	+	3	376	c.162C>T	c.(160-162)acC>acT	p.T54T	MTA1_ENST00000406191.1_Silent_p.T54T|MTA1_ENST00000405646.1_Silent_p.T54T	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	54	BAH.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TCTCCAGCACCCTCATCGCCC	0.667000													7	66					0	0	0.003080	0	0
KIAA1598	57698	broad.mit.edu	37	10	118699991	118699991	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr10:118699991G>A	ENST00000355371.4	-	9	1341	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	KIAA1598_ENST00000392903.2_Nonsense_Mutation_p.Q282*|KIAA1598_ENST00000392901.4_Nonsense_Mutation_p.Q222*|KIAA1598_ENST00000260777.10_Nonsense_Mutation_p.Q282*|KIAA1598_ENST00000497044.1_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	282					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TGTTGATGCTGAATTCTCTCT	0.423000													8	116					0	0	0.006214	0	0
NUP210L	91181	broad.mit.edu	37	1	154091215	154091215	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:154091215T>A	ENST00000368559.3	-	11	1467	c.1396A>T	c.(1396-1398)Atg>Ttg	p.M466L	NUP210L_ENST00000271854.3_Missense_Mutation_p.M466L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	466						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGTGTAAGCATGATGGGAAAA	0.338000													5	121					0	0	0.001168	0	0
FAM47C	442444	broad.mit.edu	37	X	37028863	37028863	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:37028863C>G	ENST00000358047.3	+	1	2432	c.2380C>G	c.(2380-2382)Cgt>Ggt	p.R794G		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	794										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCAAGACTCGTCGAGTGTC	0.617000													5	43					0	0	0.001168	0	0
ACTR5	79913	broad.mit.edu	37	20	37394929	37394929	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr20:37394929A>G	ENST00000243903.4	+	7	1379	c.1342A>G	c.(1342-1344)Aga>Gga	p.R448G		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	448					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TGGGACAGAAAGAATTCGAGC	0.413000													10	102					0	0	0.008291	0	0
FCRL4	83417	broad.mit.edu	37	1	157559211	157559211	+	Silent	SNP	T	T	C	rs62640947	byFrequency	TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:157559211T>C	ENST00000271532.1	-	3	225	c.90A>G	c.(88-90)ccA>ccG	p.P30P		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	30	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ATGTGGTCCATGGAGGATGGA	0.498000													5	50					0	0	0.003080	0	0
ACTL6A	86	broad.mit.edu	37	3	179287926	179287926	+	Silent	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr3:179287926C>T	ENST00000429709.2	+	3	387	c.174C>T	c.(172-174)ggC>ggT	p.G58G	ACTL6A_ENST00000450518.2_Silent_p.G16G|ACTL6A_ENST00000392662.1_Silent_p.G16G	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	58					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AAATAGATGGCGATAAAGGCA	0.433000													12	105					0	0	0.001368	0	0
CST8	10047	broad.mit.edu	37	20	23472354	23472354	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr20:23472354C>A	ENST00000246012.1	+	2	407	c.50C>A	c.(49-51)gCc>gAc	p.A17D		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	17						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ATTCCCCTGGCCCTGGTGGCC	0.572000													7	95					0.00307968	0.00349534	0.003080	1	0
BTBD10	84280	broad.mit.edu	37	11	13427223	13427223	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:13427223C>A	ENST00000278174.5	-	7	1234	c.989G>T	c.(988-990)gGa>gTa	p.G330V	BTBD10_ENST00000530907.1_Missense_Mutation_p.G338V|BTBD10_ENST00000528120.1_Missense_Mutation_p.G282V	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	330						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		ATATTCTTCTCCCATCTGTGG	0.418000													18	259					1.96292e-10	2.59386e-10	0.001523	1	0
OR2AK2	391191	broad.mit.edu	37	1	248129579	248129579	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:248129579G>T	ENST00000366480.3	+	1	1045	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GACGGGGGCAGTGAGGAGACT	0.423000													12	85					1.61879e-10	2.14678e-10	0.001368	1	0
C10orf90	118611	broad.mit.edu	37	10	128114584	128114584	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr10:128114584T>A	ENST00000284694.7	-	8	2157	c.2037A>T	c.(2035-2037)agA>agT	p.R679S	C10orf90_ENST00000544758.1_Missense_Mutation_p.R776S|C10orf90_ENST00000454341.1_Missense_Mutation_p.R582S|C10orf90_ENST00000480379.1_Missense_Mutation_p.R83S|C10orf90_ENST00000356858.3_Missense_Mutation_p.R632S	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	679										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CGGCACGGAGTCTGTTACTTT	0.413000													15	84					0	0	0.004990	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078537	107078537	+	RNA	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:107078537G>A	ENST00000390628.2	-	0	247																											CACTCAAGGCGTTGTCCACGA	0.527000													9	76					0	0	0.006214	0	0
GPR35	2859	broad.mit.edu	37	2	241570285	241570285	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:241570285G>A	ENST00000319838.5	+	6	1858	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	GPR35_ENST00000403859.1_Missense_Mutation_p.V306M|GPR35_ENST00000430267.1_Missense_Mutation_p.V306M|GPR35_ENST00000438013.2_Missense_Mutation_p.V337M|GPR35_ENST00000407714.1_Missense_Mutation_p.V306M	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	306						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CTCTCTGTGCGTGACCCTCGC	0.642000													11	67					0	0	0.001368	0	0
FLG2	388698	broad.mit.edu	37	1	152327320	152327320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:152327320G>T	ENST00000388718.5	-	3	3014	c.2942C>A	c.(2941-2943)tCa>tAa	p.S981*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	981	Ser-rich.						calcium ion binding|structural molecule activity	p.S981*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATTTTCCTGAGCCTGACTC	0.493000													52	332					4.6707e-30	6.49684e-30	0.003610	1	0
CBLL1	79872	broad.mit.edu	37	7	107398785	107398785	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr7:107398785C>T	ENST00000440859.2	+	6	1105	c.638C>T	c.(637-639)cCa>cTa	p.P213L	CBLL1_ENST00000222597.2_Missense_Mutation_p.P212L|CBLL1_ENST00000415884.2_3'UTR	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	213	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GCCCCACCACCAACTGAAATC	0.473000													14	206					0	0	0.004007	0	0
ATRX	546	broad.mit.edu	37	X	76939375	76939375	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:76939375G>C	ENST00000373344.5	-	9	1587	c.1373C>G	c.(1372-1374)tCa>tGa	p.S458*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S420*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	458					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTGACTTTGAAATATCCTT	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						11	171					0	0	0.008291	0	0
SUPT6H	6830	broad.mit.edu	37	17	27016385	27016385	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr17:27016385A>G	ENST00000314616.6	+	25	3431	c.3148A>G	c.(3148-3150)Att>Gtt	p.I1050V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.I1050V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1050					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGACTCATATATTGAAGTCCT	0.473000													4	69					0	0	0.000602	0	0
PDHA1	5160	broad.mit.edu	37	X	19369444	19369444	+	Missense_Mutation	SNP	C	C	A	rs11554111		TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chrX:19369444C>A	ENST00000379806.5	+	5	596	c.451C>A	c.(451-453)Cat>Aat	p.H151N	PDHA1_ENST00000422285.2_Missense_Mutation_p.H113N|PDHA1_ENST00000545074.1_Missense_Mutation_p.H120N|PDHA1_ENST00000540249.1_Missense_Mutation_p.H113N|PDHA1_ENST00000379805.3_Missense_Mutation_p.H113N	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	113					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CCCCACAGACCATCTCATCAC	0.498000													18	142					8.34094e-07	1.03562e-06	0.008871	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798491	55798491	+	Silent	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:55798491C>G	ENST00000313555.1	+	1	597	c.597C>G	c.(595-597)ctC>ctG	p.L199L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AGCTTCTGCTCTTTGCTTTGT	0.418000													24	303					0	0	0.006320	0	0
IL2RA	3559	broad.mit.edu	37	10	6066301	6066301	+	Silent	SNP	C	C	T	rs36065822		TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr10:6066301C>T	ENST00000379959.3	-	3	446	c.273G>A	c.(271-273)acG>acA	p.T91T	IL2RA_ENST00000256876.6_Silent_p.T91T|IL2RA_ENST00000379954.1_Silent_p.T91T	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	91					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCACTTGTTTCGTTGTGTTCC	0.413000													6	35					0	0	0.001168	0	0
MDGA2	161357	broad.mit.edu	37	14	47343340	47343340	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr14:47343340T>C	ENST00000426342.1	-	13	2353	c.1607A>G	c.(1606-1608)aAt>aGt	p.N536S	MDGA2_ENST00000357362.3_Missense_Mutation_p.N536S|MDGA2_ENST00000399232.2_Missense_Mutation_p.N834S|MDGA2_ENST00000439988.2_Missense_Mutation_p.N765S|MDGA2_ENST00000399222.3_5'UTR	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	765					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCAGTCAAAATTATCTGTATC	0.318000													12	82					0	0	0.001368	0	0
GPR133	283383	broad.mit.edu	37	12	131616301	131616301	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr12:131616301G>C	ENST00000261654.5	+	21	2766	c.2207G>C	c.(2206-2208)aGa>aCa	p.R736T	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Missense_Mutation_p.R422T|GPR133_ENST00000543617.1_Missense_Mutation_p.R255T|GPR133_ENST00000535015.1_Missense_Mutation_p.R768T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	736					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTGTGACCAGAGTCATCTCA	0.587000													8	79					0	0	0.008291	0	0
ZFAT	57623	broad.mit.edu	37	8	135615101	135615101	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr8:135615101C>G	ENST00000520727.1	-	7	1124	c.825G>C	c.(823-825)caG>caC	p.Q275H	ZFAT_ENST00000377838.3_Missense_Mutation_p.Q287H|ZFAT_ENST00000523399.1_Missense_Mutation_p.Q225H|ZFAT_ENST00000520214.1_Missense_Mutation_p.Q275H|ZFAT_ENST00000429442.2_Missense_Mutation_p.Q275H|ZFAT_ENST00000520356.1_Missense_Mutation_p.Q275H	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCAGGTGGGCCTGCAGCGAGT	0.512000													9	70					0	0	0.004482	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566211	155566211	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:155566211C>A	ENST00000295101.2	+	2	1276	c.799C>A	c.(799-801)Ccc>Acc	p.P267T	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	267					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCTTGTGTCCCCCCTCACAAT	0.488000													8	65					1.06961e-07	1.35071e-07	0.003080	1	0
WDR90	197335	broad.mit.edu	37	16	712698	712698	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr16:712698G>A	ENST00000549091.1	+	34	4263	c.4171G>A	c.(4171-4173)Gag>Aag	p.E1391K	WDR90_ENST00000293879.4_Missense_Mutation_p.E1389K	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1389										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CATGGAACACGAGCTGGTGCT	0.627000													5	45					0	0	0.001984	0	0
MUC6	4588	broad.mit.edu	37	11	1026473	1026473	+	Silent	SNP	G	G	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:1026473G>A	ENST00000421673.2	-	20	2450	c.2400C>T	c.(2398-2400)ccC>ccT	p.P800P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	800					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACACTTGGTGGGCACCTGGA	0.692000													3	22					0	0	0.000602	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90122080	90122080	+	RNA	SNP	C	C	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:90122080C>A	ENST00000483379.1	+	0	479																											AATCAGCAGCCTGCAGCCTGA	0.478000													10	106					3.27435e-08	4.16327e-08	0.002450	1	0
GNG12	55970	broad.mit.edu	37	1	68171150	68171151	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:68171150_68171151insT	ENST00000370982.3	-	4	401_402	c.202_203insA	c.(202-204)ttgfs	p.L68fs		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	68					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATCC	0.436													9	116	---	---	---	---					
SPTA1	6708	broad.mit.edu	37	1	158617388	158617389	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr1:158617388_158617389insT	ENST00000368148.3	-	27	4016_4017	c.3836_3837insA	c.(3835-3837)agafs	p.R1279fs	SPTA1_ENST00000368147.3_Frame_Shift_Ins_p.R1279fs	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1279					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTTACGATCCTTTGTACGCCC	0.550													10	125	---	---	---	---					
RGPD3	653489	broad.mit.edu	37	2	107049632	107049633	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:107049632_107049633insA	ENST00000409886.3	-	16	2401_2402	c.2314_2315insT	c.(2314-2316)ggafs	p.G772fs	RGPD3_ENST00000304514.7_Frame_Shift_Ins_p.G772fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTGAATCCGCATTTCGCAAA	0.376													9	146	---	---	---	---					
PKP4	8502	broad.mit.edu	37	2	159488280	159488281	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:159488280_159488281insT	ENST00000389757.3	+	8	1294_1295	c.1169_1170insT	c.(1168-1170)tgcfs	p.C390fs	PKP4_ENST00000389759.3_Frame_Shift_Ins_p.C390fs	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	390					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CGGAGTTCCTATGCTAGTCAGC	0.446										HNSCC(62;0.18)			24	162	---	---	---	---					
SCN2A	6326	broad.mit.edu	37	2	166245178	166245178	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr2:166245178delC	ENST00000357398.3	+	27	5152	c.4862delC	c.(4861-4863)tcfs	p.S1621fs	SCN2A_ENST00000283256.6_Frame_Shift_Del_p.S1621fs|SCN2A_ENST00000375427.2_Frame_Shift_Del_p.S1621fs|SCN2A_ENST00000375437.2_Frame_Shift_Del_p.S1621fs			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1621					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TATTTTGTGTCCCCTACCCTG	0.408													14	173	---	---	---	---					
FTLP10	100130017	broad.mit.edu	37	4	69049979	69049979	+	RNA	DEL	A	A	-			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr4:69049979delA	ENST00000503647.1	+	0	1212					NR_015446.1																						CTCCCTGAATAAAAAAAAGAA	0.353													2	4	---	---	---	---					
PREX2	80243	broad.mit.edu	37	8	69000005	69000006	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr8:69000005_69000006insA	ENST00000288368.4	+	19	2351_2352	c.2074_2075insA	c.(2074-2076)gggfs	p.G692fs	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	692	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R692L(2)|p.R692Q(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTTCCAGATCCGGGGATTTGGC	0.455													20	256	---	---	---	---					
TRIM51	84767	broad.mit.edu	37	11	55658790	55658790	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr11:55658790delG	ENST00000449290.2	+	7	1133	c.1041delG	c.(1039-1041)atfs	p.M347fs	TRIM51_ENST00000244891.3_Frame_Shift_Del_p.M204fs	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	347	B30.2/SPRY.					intracellular	zinc ion binding										AGGTTCATATGGGGGACTCTT	0.428													13	71	---	---	---	---					
TAOK1	57551	broad.mit.edu	37	17	27829728	27829728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr17:27829728delG	ENST00000261716.3	+	13	1844	c.1325delG	c.(1324-1326)cgfs	p.R442fs	TAOK1_ENST00000536202.1_Frame_Shift_Del_p.R442fs	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	442					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GCTACTATACGGACAGCATCA	0.388													7	169	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29527502	29527503	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr17:29527502_29527503delAG	ENST00000358273.4	+	9	1334_1335	c.951_952delAG	c.(949-954)acaafs	p.TE317fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.TE317fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.TE317fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	317					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGCAGCTGACAGAAAGTGCTGC	0.396			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	100	---	---	---	---					
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-			TCGA-55-7724-01A-11D-2167-08	TCGA-55-7724-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bf4a4b3-afb8-4494-b749-7138b223fc6f	b725ffd9-431b-4d0b-8752-5f2a7bb9e8b2	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													6	5	---	---	---	---					
