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
FAT4	79633	broad.mit.edu	37	4	126355501	126355501	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:126355501C>T	ENST00000394329.3	+	7	7133	c.7120C>T	c.(7120-7122)Cct>Tct	p.P2374S	FAT4_ENST00000335110.5_Missense_Mutation_p.P672S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2374	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACAACAATTCCTGAGGATGC	0.408000													17	62					0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146778786	146778786	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:146778786G>A	ENST00000343218.5	-	11	1679	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	DPYSL3_ENST00000398514.3_Silent_p.F380F|DPYSL3_ENST00000534907.1_Silent_p.F6F	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	380					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACAGCCACGAACTGGTTTT	0.433000													40	58					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20656892	20656892	+	Silent	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:20656892G>T	ENST00000202677.7	-	3	265	c.258C>A	c.(256-258)ctC>ctA	p.L86L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CAAAAAGGAAGAGGATGGAGT	0.274000													3	11					0.115264	0.116442	1	1	0
CHRNA3	1136	broad.mit.edu	37	15	78894561	78894561	+	Silent	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr15:78894561G>C	ENST00000326828.5	-	5	807	c.423C>G	c.(421-423)ctC>ctG	p.L141L	CHRNA3_ENST00000348639.3_Silent_p.L141L	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	141					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAGTGTACTTGAGTAAGGCTT	0.483000													10	41					0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349993	134349993	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:134349993C>A	ENST00000275230.5	-	2	1125	c.970G>T	c.(970-972)Gga>Tga	p.G324*		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	324						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TTGACGACTCCAACCCCAGTG	0.488000													5	57					0.014758	0.0150628	1	1	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31729660	31729660	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:31729660G>A	ENST00000493662.2	+	23	2354	c.2298G>A	c.(2296-2298)gcG>gcA	p.A766A	MSH5_ENST00000395853.1_Silent_p.A423A|MSH5-SAPCD1_ENST00000491552.1_Intron|MSH5_ENST00000375755.3_Silent_p.A749A|MSH5_ENST00000375750.3_Silent_p.A749A|MSH5_ENST00000534153.4_Silent_p.A766A|MSH5_ENST00000431848.2_Silent_p.A448A|MSH5_ENST00000375740.3_Intron|MSH5_ENST00000375703.3_Silent_p.A750A|MSH5_ENST00000375742.3_Silent_p.A766A																							AAGGTGTTGCGAAGGCCAGCC	0.507000													10	76					0	0	1	0	0
C3orf36	80111	broad.mit.edu	37	3	133647345	133647345	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:133647345C>T	ENST00000408895.2	-	1	1311	c.303G>A	c.(301-303)acG>acA	p.T101T		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	101										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GTGGGGGCCCCGTGGGTGTGC	0.692000													3	22					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119132778	119132778	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:119132778G>C	ENST00000264245.4	+	12	2534	c.2002G>C	c.(2002-2004)Gag>Cag	p.E668Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	668					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATCTGAGGAGGAGCTCTCATC	0.498000													46	97					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139866621	139866621	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:139866621C>G	ENST00000297183.6	+	14	2345	c.2221C>G	c.(2221-2223)Cct>Gct	p.P741A	ANKHD1_ENST00000360839.2_Missense_Mutation_p.P741A|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P741A	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAACTCTCCTGCCCTTTT	0.383000													4	32					0	0	1	0	0
UBQLN1	29979	broad.mit.edu	37	9	86281340	86281340	+	Silent	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:86281340C>A	ENST00000376395.4	-	8	1780	c.1257G>T	c.(1255-1257)ctG>ctT	p.L419L	UBQLN1_ENST00000257468.7_Intron	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	419					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GGGGATTATTCAGCATCATCT	0.393000													10	32					1.58986e-06	1.72356e-06	1	1	0
NIPBL	25836	broad.mit.edu	37	5	37060971	37060971	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:37060971G>A	ENST00000282516.8	+	45	8210	c.7711G>A	c.(7711-7713)Gaa>Aaa	p.E2571K	NIPBL_ENST00000448238.2_Missense_Mutation_p.E2571K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2571					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTCTCCATCTGAATCTGCAAA	0.348000													4	22					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38818165	38818165	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:38818165G>A	ENST00000359357.3	+	36	4941	c.4687G>A	c.(4687-4689)Gaa>Aaa	p.E1563K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E1563K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E1780K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAGCAGTTGGAAGTATGTCA	0.353000													14	42					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479191	14479191	+	RNA	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr18:14479191C>G	ENST00000581457.1	-	0	717					NR_024076.1																						ATCATCTGCTCAGGAGTAGTG	0.552000													3	30					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81077750	81077750	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:81077750G>A	ENST00000566488.1	+	3	2142	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q	ATMIN_ENST00000564241.1_Silent_p.Q393Q|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Silent_p.Q549Q			O43313	ATMIN_HUMAN	ATM interactor	549	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TGTTACCTCAGAATGAGCCTA	0.333000													6	34					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794860	140794860	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:140794860C>T	ENST00000398610.2	+	1	2118	c.2118C>T	c.(2116-2118)tgC>tgT	p.C706C	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCTCCTGCGTCTTCCTGG	0.637000													19	103					0	0	1	0	0
LAT	27040	broad.mit.edu	37	16	28997508	28997508	+	Silent	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:28997508C>G	ENST00000395456.2	+	4	538	c.216C>G	c.(214-216)ccC>ccG	p.P72P	LAT_ENST00000360872.5_Silent_p.P72P|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000563964.1_Intron|LAT_ENST00000395461.3_Silent_p.P108P|LAT_ENST00000564277.1_Silent_p.P72P|LAT_ENST00000454369.2_Silent_p.P72P|LAT_ENST00000566177.1_Silent_p.P72P|LAT_ENST00000354453.4_Silent_p.P72P	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	72					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CCTACCCACCCCTGAGCCAGC	0.622000													13	58					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16901149	16901149	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:16901149T>A	ENST00000430580.2	-	21	3118	c.2231A>T	c.(2230-2232)gAc>gTc	p.D744V	NBPF1_ENST00000287968.8_Missense_Mutation_p.D109V|NBPF1_ENST00000432949.1_Missense_Mutation_p.D202V	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	744	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTCCAGTGAGTCCTCAGGGAC	0.488000													30	215					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808235	77808235	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:77808235G>A	ENST00000269397.4	-	5	1383	c.1206C>T	c.(1204-1206)gtC>gtT	p.V402V		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	402	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GATTCAGGCCGACGGCgtggt	0.706000													6	7					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671630	49671630	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:49671630G>A	ENST00000561648.1	-	4	1486	c.1433C>T	c.(1432-1434)tCt>tTt	p.S478F	ZNF423_ENST00000563137.2_Missense_Mutation_p.S418F|ZNF423_ENST00000262383.2_Missense_Mutation_p.S478F|ZNF423_ENST00000562520.1_Missense_Mutation_p.S418F|ZNF423_ENST00000562871.1_Missense_Mutation_p.S418F|ZNF423_ENST00000567169.1_Missense_Mutation_p.S361F|ZNF423_ENST00000535559.1_Missense_Mutation_p.S361F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	478					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTGGAAGGCAGAGATGTTGCC	0.582000													8	46					0	0	1	0	0
AZGP1P1	646282	broad.mit.edu	37	7	99578468	99578468	+	RNA	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:99578468G>C	ENST00000425474.1	+	0	84					NR_036679.1																						GGAGACCCGAGATGGTGAGTG	0.577000													17	178					0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33519742	33519742	+	Splice_Site	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:33519742C>T	ENST00000216951.2	-	10	1127	c.1029G>A	c.(1027-1029)gtG>gtA	p.V343V	GSS_ENST00000451957.2_Splice_Site_p.V232V|GSS_ENST00000541098.1_Splice_Site_p.V215V	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	343					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GCCCACGTACCACATCCAGTG	0.627000													6	48					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41782121	41782121	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:41782121C>G	ENST00000392006.3	+	5	877	c.704C>G	c.(703-705)aCa>aGa	p.T235R	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.T135R|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.T235R|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.T135R|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.T192R|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.T135R|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.T146R	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	235	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TATCCGCTCACAATTGAGGGC	0.522000													15	171					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87764233	87764233	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:87764233G>A	ENST00000270583.5	-	6	582	c.524C>T	c.(523-525)tCg>tTg	p.S175L	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.S118L|KLHDC4_ENST00000347925.5_Intron	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	175										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		ACTCCGACCCGAAGGACCGCC	0.423000													15	88					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	712706	712706	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:712706C>T	ENST00000382303.1	+	7	2592	c.1940C>T	c.(1939-1941)tCc>tTc	p.S647F	KANK1_ENST00000382293.3_Missense_Mutation_p.S489F|KANK1_ENST00000382297.2_Missense_Mutation_p.S647F|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	647					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GAGTGCGCCTCCCGGGGCGTG	0.542000													8	31					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71588450	71588450	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:71588450C>T	ENST00000226328.4	+	1	723	c.160C>T	c.(160-162)Cca>Tca	p.P54S	RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000536664.1_Missense_Mutation_p.P20S|RUFY3_ENST00000381006.3_Missense_Mutation_p.P54S	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	54					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TACACCTGACCCAGAGCCTAC	0.537000													10	47					0	0	1	0	0
ASPN	54829	broad.mit.edu	37	9	95237059	95237059	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:95237059C>A	ENST00000375544.3	-	2	364	c.121G>T	c.(121-123)Gat>Tat	p.D41Y	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000450139.2_Missense_Mutation_p.D13Y|ASPN_ENST00000375543.1_Missense_Mutation_p.D41Y|ASPN_ENST00000395538.3_Missense_Mutation_p.D41Y	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	41	Poly-Asp.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						tcatcatcatcatcatcatcT	0.398000													3	22					0.115264	0.116442	1	1	0
RECQL5	9400	broad.mit.edu	37	17	73625074	73625074	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:73625074C>G	ENST00000317905.5	-	16	2588	c.2429G>C	c.(2428-2430)gGa>gCa	p.G810A	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.G783A	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	810					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCCCCGGCTCCATCTTCCTC	0.617000								Other identified genes with known or suspected DNA repair function					5	45					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720081	146720081	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:146720081G>C	ENST00000392299.2	+	8	2376	c.1906G>C	c.(1906-1908)Gct>Cct	p.A636P	GRM1_ENST00000361719.2_Missense_Mutation_p.A636P|GRM1_ENST00000282753.1_Missense_Mutation_p.A636P|GRM1_ENST00000355289.4_Missense_Mutation_p.A636P|GRM1_ENST00000507907.1_Missense_Mutation_p.A636P|GRM1_ENST00000492807.2_Missense_Mutation_p.A636P			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	636					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CATCATCCTAGCTGGCATCTT	0.522000													29	120					0	0	1	0	0
NSUN4	387338	broad.mit.edu	37	1	46827299	46827299	+	Silent	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:46827299C>G	ENST00000474844.1	+	6	1586	c.936C>G	c.(934-936)ctC>ctG	p.L312L	NSUN4_ENST00000536062.1_Silent_p.L263L|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Silent_p.L263L	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	312							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					CCTGCTCACTCTCACACTTAC	0.502000													11	62					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7591349	7591349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:7591349C>T	ENST00000264079.6	+	3	387	c.262C>T	c.(262-264)Cag>Tag	p.Q88*		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	88					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTCAGTAATCAGCTGGCTGT	0.597000													18	105					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067757	190067757	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:190067757G>A	ENST00000367462.3	-	8	1923	c.1692C>T	c.(1690-1692)acC>acT	p.T564T	BRINP3_ENST00000534846.1_Silent_p.T462T	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	564																	CTGGCTCCAAGGTGCTGTTTT	0.463000													12	67					0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70748747	70748747	+	Silent	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:70748747G>T	ENST00000361983.4	+	1	261	c.159G>T	c.(157-159)gcG>gcT	p.A53A		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	53					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TCGGCCCTGCGCCTGAGGACG	0.682000											OREG0020215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	51					2.80697e-09	3.09969e-09	1	1	0
ITPKB	3707	broad.mit.edu	37	1	226925056	226925056	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:226925056G>A	ENST00000429204.1	-	2	431	c.104C>T	c.(103-105)cCg>cTg	p.P35L	ITPKB_ENST00000366784.1_Missense_Mutation_p.P35L|ITPKB_ENST00000272117.3_Missense_Mutation_p.P35L	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	35							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCTCGGGGGCGGGGGCGTCTC	0.682000													4	11					0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18274189	18274189	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:18274189G>A	ENST00000593731.1	+	11	1967	c.1407G>A	c.(1405-1407)cgG>cgA	p.R469R	PIK3R2_ENST00000222254.8_Silent_p.R469R			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	469					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						AGTACACACGGACCTCCCAGG	0.592000													9	25					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30134998	30134998	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:30134998G>A	ENST00000376694.4	+	2	896	c.427G>A	c.(427-429)Gag>Aag	p.E143K	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	143					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GGAGAGAGATGAGATTGAGGA	0.468000													6	54					0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41345136	41345136	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr13:41345136G>T	ENST00000323563.6	-	1	173	c.137C>A	c.(136-138)tCa>tAa	p.S46*		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	46						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CAACAGCGCTGAACTGCGGTA	0.607000													13	51					3.27435e-08	3.59572e-08	1	1	0
ENGASE	64772	broad.mit.edu	37	17	77079567	77079567	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:77079567C>T	ENST00000579016.1	+	9	1146	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	382	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CTGGCAGGTTCTGGGGCCGAC	0.607000													9	24					0	0	1	0	0
ZNF517	340385	broad.mit.edu	37	8	146029040	146029040	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:146029040C>T	ENST00000359971.3	+	3	155	c.48C>T	c.(46-48)ttC>ttT	p.F16F	ZNF517_ENST00000531720.1_Silent_p.F16F|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Silent_p.F16F	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CGGTTGTGTTCGAGGATGTGG	0.547000													17	45					0	0	1	0	0
CHTF8	54921	broad.mit.edu	37	16	69154319	69154319	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:69154319G>A	ENST00000306585.6	-	4	496	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	CHTF8_ENST00000520529.1_3'UTR|CHTF8_ENST00000448552.2_3'UTR|CHTF8_ENST00000519520.1_3'UTR|CHTF8_ENST00000574807.1_Missense_Mutation_p.R5W|CHTF8_ENST00000398235.2_3'UTR|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000518041.1_Intron	NM_001040146.3	NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	0					cell cycle|DNA replication	nucleus	DNA binding	p.R5W(1)									GGGAAAATCCGAGGTTCTTTC	0.572000													5	14					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033191	20033191	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:20033191C>T	ENST00000377340.2	-	2	310	c.279G>A	c.(277-279)aaG>aaA	p.K93K	CRNKL1_ENST00000377327.4_Silent_p.K81K|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	93					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GCGCGTCCTCCTTGCGGCAGC	0.657000													5	20					0	0	1	0	0
SYNGR4	23546	broad.mit.edu	37	19	48878886	48878886	+	Silent	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:48878886C>G	ENST00000344846.2	+	4	598	c.348C>G	c.(346-348)gtC>gtG	p.V116V	SYNGR4_ENST00000601610.1_Silent_p.V67V|SYNGR4_ENST00000595322.1_Intron	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	116	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		GGGCAGTTGTCTGGTTCATGG	0.607000													13	50					0	0	1	0	0
RPL37	6167	broad.mit.edu	37	5	40834706	40834706	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:40834706C>T	ENST00000274242.5	-	2	155	c.6G>A	c.(4-6)acG>acA	p.T2T	RPL37_ENST00000509877.1_Silent_p.T2T|RPL37_ENST00000504562.1_5'UTR|RPL37_ENST00000508493.1_Silent_p.T2T	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	2					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome			lung(3)|ovary(1)	4		Breast(839;0.238)				ACGTTCCCTTCGTCTGCACAT	0.463000													6	54					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962148	151962148	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:151962148C>T	ENST00000355193.2	-	8	1377	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	KMT2C_ENST00000262189.6_Missense_Mutation_p.E387K					lysine (K)-specific methyltransferase 2C																		ACTTTGCACTCAGGACATTGC	0.418000													10	228					0	0	1	0	0
LYZL6	57151	broad.mit.edu	37	17	34261865	34261865	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:34261865C>G	ENST00000585556.1	-	5	716	c.382G>C	c.(382-384)Gaa>Caa	p.E128Q	LYZL6_ENST00000394523.3_Missense_Mutation_p.E128Q|LYZL6_ENST00000293274.4_Missense_Mutation_p.E128Q			O75951	LYZL6_HUMAN	lysozyme-like 6	128					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACCTCCATTCTACCCTGCGG	0.542000													9	33					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53574156	53574156	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:53574156T>C	ENST00000025008.5	-	9	1820	c.1297A>G	c.(1297-1299)Att>Gtt	p.I433V	RB1CC1_ENST00000435644.2_Missense_Mutation_p.I433V|RB1CC1_ENST00000539297.1_Missense_Mutation_p.I433V|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	433					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTCTGCTTAATATCTAACAGT	0.333000													5	76					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68163587	68163587	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:68163587G>C	ENST00000262215.3	-	19	3186	c.2797C>G	c.(2797-2799)Cag>Gag	p.Q933E	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q387E	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	933					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.Q933K(1)|p.Q933*(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAGGGTGCCTGAACATGGCTC	0.403000													7	44					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525218	248525218	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:248525218G>T	ENST00000366475.1	+	1	336	c.336G>T	c.(334-336)aaG>aaT	p.K112N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CTGTGCCCAAGATGCTCCTGG	0.488000													63	105					1.38814e-16	1.56198e-16	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146536841	146536841	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:146536841C>G	ENST00000361727.3	+	3	763	c.247C>G	c.(247-249)Caa>Gaa	p.Q83E		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	83	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGACCATTATCAATGGCTTCA	0.468000										HNSCC(39;0.1)			7	48					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150922	128150922	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:128150922G>C	ENST00000368250.1	-	4	669	c.171C>G	c.(169-171)atC>atG	p.I57M	THEMIS_ENST00000537166.1_Missense_Mutation_p.I101M|THEMIS_ENST00000368248.2_Missense_Mutation_p.I136M|THEMIS_ENST00000543064.1_Missense_Mutation_p.I136M			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	136	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGTTGAGCATGATTTGCTCAC	0.403000													30	53					0	0	1	0	0
SUPT20H	55578	broad.mit.edu	37	13	37586428	37586428	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr13:37586428C>G	ENST00000360252.4	-	24	2249	c.2002G>C	c.(2002-2004)Gag>Cag	p.E668Q	SUPT20H_ENST00000350612.6_Missense_Mutation_p.E667Q|SUPT20H_ENST00000356185.3_Missense_Mutation_p.E668Q|SUPT20H_ENST00000475892.1_Missense_Mutation_p.E746Q|SUPT20H_ENST00000464744.1_Missense_Mutation_p.E668Q	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		GAACCTTGCTCAGAACCCTGA	0.368000													21	108					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61655511	61655511	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:61655511C>G	ENST00000423902.2	+	2	1999	c.1520C>G	c.(1519-1521)tCt>tGt	p.S507C	CHD7_ENST00000524602.1_Missense_Mutation_p.S507C|CHD7_ENST00000525508.1_Missense_Mutation_p.S507C	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	507	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAACAGCCATCTTTTCAGCAG	0.567000													3	12					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378866	55378866	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:55378866G>A	ENST00000398661.2	-	6	743	c.612C>T	c.(610-612)caC>caT	p.H204H	HMGCLL1_ENST00000274901.4_Silent_p.H174H|HMGCLL1_ENST00000308161.4_Silent_p.H142H|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000428842.1_Silent_p.H142H	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	204							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAATATTCATGTGTCTTGCAG	0.328000													10	34					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20870080	20870080	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:20870080G>T	ENST00000381552.1	+	7	1059	c.691G>T	c.(691-693)Gtt>Ttt	p.V231F	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.V182F|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.V231F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.V231F|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.V113F			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	231					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.V231F(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TGTGCAGACGGTTGCAATTAT	0.333000													7	39					8.12818e-05	8.59182e-05	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31325872	31325872	+	Silent	SNP	A	A	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr18:31325872A>G	ENST00000269197.5	+	12	6060	c.6060A>G	c.(6058-6060)ccA>ccG	p.P2020P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2020	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.P2020P(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						cgccgccgccaccgcctcccc	0.602000													4	9					0	0	1	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252016	26252016	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:26252016G>A	ENST00000356350.2	+	1	138	c.138G>A	c.(136-138)ctG>ctA	p.L46L		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	46					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						ACAAGGTGCTGAAGCAAGTCC	0.562000													13	70					0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122734414	122734414	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:122734414G>A	ENST00000512454.1	+	8	1021	c.805G>A	c.(805-807)Gca>Aca	p.A269T	EXOSC9_ENST00000243498.5_Missense_Mutation_p.A285T|EXOSC9_ENST00000379663.3_Missense_Mutation_p.A285T|EXOSC9_ENST00000509980.1_3'UTR			Q06265	EXOS9_HUMAN	exosome component 9	285					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GTTTGGTTTTGCAGAGTCTAT	0.418000													5	52					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23887624	23887624	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:23887624C>T	ENST00000546136.1	-	5	767	c.765G>A	c.(763-765)caG>caA	p.Q255Q	SOX5_ENST00000541536.1_Silent_p.Q255Q|SOX5_ENST00000537393.1_Silent_p.Q233Q|SOX5_ENST00000381381.2_Silent_p.Q255Q|SOX5_ENST00000545921.1_Silent_p.Q258Q|SOX5_ENST00000309359.1_Silent_p.Q255Q|SOX5_ENST00000451604.2_Silent_p.Q268Q			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	268					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGACCTGGATCTGTTGCTGGA	0.313000													9	43					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676455	100676455	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:100676455G>C	ENST00000306151.4	+	3	1822	c.1758G>C	c.(1756-1758)gaG>gaC	p.E586D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	586	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGTTCTGAGGCTAGCACCA	0.488000													34	232					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70979931	70979931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr15:70979931G>A	ENST00000322954.6	-	7	735	c.550C>T	c.(550-552)Caa>Taa	p.Q184*	UACA_ENST00000560441.1_Nonsense_Mutation_p.Q171*|UACA_ENST00000539319.1_Intron|UACA_ENST00000379983.2_Nonsense_Mutation_p.Q171*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	184						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATCAGCAGTTGACATATTGTT	0.438000													12	41					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46741667	46741667	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:46741667G>C	ENST00000394809.4	-	13	2524	c.2409C>G	c.(2407-2409)ttC>ttG	p.F803L	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Missense_Mutation_p.F462L	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	803					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCACCACATAGAAATGTTTCT	0.398000													10	23					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210015714	210015714	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:210015714G>C	ENST00000491415.2	+	9	1647	c.1590G>C	c.(1588-1590)caG>caC	p.Q530H		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	530					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						ACTATCGCCAGACACTGCTAT	0.493000													8	54					0	0	1	0	0
VSX1	30813	broad.mit.edu	37	20	25059442	25059442	+	Missense_Mutation	SNP	C	C	T	rs6138482	by1000genomes	TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:25059442C>T	ENST00000376707.3	-	3	684	c.650G>A	c.(649-651)cGc>cAc	p.R217H	VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000376709.4_Intron|VSX1_ENST00000424574.1_Intron	NM_199425.2	NP_955457.1	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	0					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						ATCTTTGGAGCGGAGAAAAGG	0.527000													6	158					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139767402	139767402	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:139767402G>A	ENST00000303045.6	-	21	2475	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R677W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	677	Collagen-like 4.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAACTTACCCGAGCTCCTGGA	0.552000										HNSCC(7;0.00092)			4	60					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155451088	155451088	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:155451088C>T	ENST00000368346.3	-	3	2212	c.1573G>A	c.(1573-1575)Gta>Ata	p.V525I	ASH1L_ENST00000392403.3_Missense_Mutation_p.V525I			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	525					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTGCAATATACAGGAGGCTGC	0.428000													19	39					0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100064708	100064708	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:100064708C>T	ENST00000300181.2	-	5	1816	c.1062G>A	c.(1060-1062)cgG>cgA	p.R354R	TSC22D4_ENST00000393991.1_Silent_p.R115R|TSC22D4_ENST00000496728.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	354	Leucine-zipper.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGCAGCGTTCCGCTCCGCCA	0.697000													6	18					0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30198259	30198259	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:30198259C>T	ENST00000219150.5	+	4	749	c.444C>T	c.(442-444)ctC>ctT	p.L148L	CORO1A_ENST00000565497.1_Silent_p.L148L|CORO1A_ENST00000570045.1_Silent_p.L148L	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	148					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACGTGCTGCTCAGTGCAGGTG	0.672000													4	25					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972743	29972743	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chrX:29972743G>A	ENST00000378993.1	+	10	1979	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.D436N	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	436	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AATCCTACCTGATATGCTTGA	0.358000													4	40					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351283	40351283	+	Silent	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:40351283C>G	ENST00000310169.2	+	4	889	c.750C>G	c.(748-750)ctC>ctG	p.L250L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	250					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CATGCGTCCTCATATCTTTTC	0.522000													49	245					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43937155	43937155	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:43937155G>A	ENST00000282406.4	+	12	2103	c.1993G>A	c.(1993-1995)Gaa>Aaa	p.E665K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	665	Ser-rich.					cytoplasm|cytoskeleton|integral to membrane	binding	p.E665K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTGGCTTCTGAAAGTGATTA	0.458000													23	117					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119568061	119568061	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:119568061G>T	ENST00000313400.4	-	13	2346	c.2246C>A	c.(2245-2247)tCc>tAc	p.S749Y	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S698Y|ASTN2_ENST00000373996.3_Missense_Mutation_p.S745Y			O75129	ASTN2_HUMAN	astrotactin 2	749	EGF-like 3.					integral to membrane				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						CATTAAGCAGGATTTTCCATC	0.478000													15	88					1.99824e-07	2.18626e-07	1	1	0
LIPF	8513	broad.mit.edu	37	10	90438289	90438289	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:90438289G>T	ENST00000394375.3	+	11	1191	c.1078G>T	c.(1078-1080)Gat>Tat	p.D360Y	LIPF_ENST00000238983.4_Missense_Mutation_p.D350Y|LIPF_ENST00000608620.1_Missense_Mutation_p.D317Y|LIPF_ENST00000355843.2_Missense_Mutation_p.D327Y	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	350					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TGACCCCCAAGATGTTGGCCT	0.463000													20	61					9.7654e-05	0.000103041	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11049475	11049475	+	RNA	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr21:11049475C>T	ENST00000470054.1	-	0	633									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTTGCACTCAGGACATTGC	0.423000													7	128					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165552087	165552087	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:165552087C>G	ENST00000375458.2	-	11	2036	c.1815G>C	c.(1813-1815)caG>caC	p.Q605H	COBLL1_ENST00000392717.2_Missense_Mutation_p.Q681H|COBLL1_ENST00000342193.4_Missense_Mutation_p.Q643H|COBLL1_ENST00000409184.3_Missense_Mutation_p.Q643H|COBLL1_ENST00000194871.6_Missense_Mutation_p.Q710H	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	681										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AAGGGGTTGTCTGAATTGCTG	0.368000													27	152					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577077	7577077	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:7577077C>T	ENST00000420246.2	-	8	993	c.861G>A	c.(859-861)gaG>gaA	p.E287E	TP53_ENST00000455263.2_Silent_p.E287E|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Silent_p.E287E|TP53_ENST00000269305.4_Silent_p.E287E|TP53_ENST00000359597.4_Silent_p.E287E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	287	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.N288fs*13(17)|p.0?(8)|p.E287E(5)|p.?(2)|p.E286fs*17(2)|p.E287D(2)|p.R283fs*16(2)|p.N288fs*18(1)|p.L265_K305del41(1)|p.N288fs*15(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TGCGGAGATTCTCTTCCTCTG	0.567000		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)			10	16					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7177778	7177778	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chrX:7177778G>C	ENST00000217961.4	+	5	1006	c.786G>C	c.(784-786)caG>caC	p.Q262H		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	262					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	ATCTCACCCAGAGGCTAACGG	0.502000									Ichthyosis				19	16					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12557566	12557566	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:12557566G>A	ENST00000358136.3	+	68	12805	c.12675G>A	c.(12673-12675)caG>caA	p.Q4225Q	VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Silent_p.Q223Q|VPS13D_ENST00000543710.1_Silent_p.Q29Q|VPS13D_ENST00000356315.4_Silent_p.Q4200Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4224					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTCAAGCACAGAGGGTTCGGA	0.507000													5	34					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83673942	83673942	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:83673942G>A	ENST00000376106.3	-	0	844				DLG2_ENST00000532653.1_Silent_p.D337D|DLG2_ENST00000524982.1_Silent_p.D337D|DLG2_ENST00000280241.8_Silent_p.D376D|DLG2_ENST00000330014.6_Silent_p.D276D|DLG2_ENST00000418306.2_Silent_p.D286D|DLG2_ENST00000398301.2_Silent_p.D376D|DLG2_ENST00000376104.2_Silent_p.D442D|DLG2_ENST00000543673.1_Silent_p.D442D|DLG2_ENST00000398309.2_Silent_p.D337D|DLG2_ENST00000537455.1_Silent_p.D91D|DLG2_ENST00000531015.1_Silent_p.D304D			Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.D286E(1)|p.D442E(1)|p.D376E(1)|p.D337E(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTAGTCGTCGTCAACAAGCA	0.423000													29	91					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59522163	59522163	+	Splice_Site	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:59522163C>T	ENST00000038176.3	-	10	899	c.687G>A	c.(685-687)ccG>ccA	p.P229P	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Splice_Site_p.P260P	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	229	GRAM.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GTCTACACACCGGGTAGCCGT	0.527000													10	33					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33433140	33433140	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:33433140G>A	ENST00000336431.5	-	15	2024	c.1980C>T	c.(1978-1980)acC>acT	p.T660T	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	660					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCTACAGGATGGTGGCTCCAG	0.592000													3	31					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380301	56380301	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:56380301G>T	ENST00000526538.1	-	1	677	c.678C>A	c.(676-678)ttC>ttA	p.F226L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AACGGATCCTGAAGATCGCTG	0.433000													13	80					5.50884e-06	5.92875e-06	1	1	0
SLC38A8	146167	broad.mit.edu	37	16	84065560	84065560	+	Silent	SNP	G	G	A	rs146048236		TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:84065560G>A	ENST00000299709.3	-	4	543	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	182					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAGGCAGCCAGAGTGCCTAGG	0.597000													4	41					0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7358688	7358688	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:7358688C>T	ENST00000306071.2	+	9	1197	c.1130C>T	c.(1129-1131)tCt>tTt	p.S377F	CHRNB1_ENST00000576360.1_Missense_Mutation_p.S256F|CHRNB1_ENST00000536404.2_Missense_Mutation_p.S305F	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	377					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				CCTCACTGTTCTTCTCCAGGA	0.522000													38	38					0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315749	73315749	+	Missense_Mutation	SNP	G	G	A	rs140054897		TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:73315749G>A	ENST00000258098.6	-	3	1237	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	333					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						AGCGAAGAGCGGGAGGCAGCA	0.622000													3	17					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140856230	140856230	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:140856230C>T	ENST00000308177.3	+	1	651	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGCGCTTCGCGTGCAGAC	0.607000													5	36					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77473361	77473361	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr15:77473361C>T	ENST00000560626.2	-	4	1383	c.908G>A	c.(907-909)aGa>aAa	p.R303K	PEAK1_ENST00000312493.4_Missense_Mutation_p.R303K|PEAK1_ENST00000558305.1_Missense_Mutation_p.R303K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	303					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R303I(2)									AGCACAGATTCTCTGCAGAGA	0.438000													16	59					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79667810	79667810	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:79667810C>T	ENST00000329138.4	+	20	2237	c.2102C>T	c.(2101-2103)tCa>tTa	p.S701L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	701	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GGGAGCCAGTCAGTCTCCATG	0.637000													7	26					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	18962743	18962743	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:18962743C>T	ENST00000420770.2	+	4	547	c.464C>T	c.(463-465)tCg>tTg	p.S155L	PAX7_ENST00000375375.3_Missense_Mutation_p.S155L|PAX7_ENST00000400661.3_Missense_Mutation_p.S153L	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	155	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TTAGTGAGTTCGATTAGCCGC	0.517000			T	FOXO1A	alveolar rhabdomyosarcoma								5	41					0	0	1	0	0
MIR379	494328	broad.mit.edu	37	14	101488425	101488425	+	RNA	SNP	T	T	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr14:101488425T>C	ENST00000362218.3	+	0	60					NR_029871.1																						CTATGGAACGTAGGCGTTATG	0.512000													17	18					0	0	1	0	0
RPS12	6206	broad.mit.edu	37	6	133138120	133138120	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:133138120G>C	ENST00000230050.3	+	5	466	c.256G>C	c.(256-258)Gga>Cga	p.G86R		NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	86					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		CAAGAAACTAGGAGAATGGGT	0.353000													14	68					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16355039	16355039	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:16355039G>A	ENST00000354981.2	-	20	3370	c.3213C>T	c.(3211-3213)atC>atT	p.I1071I	KIF16B_ENST00000408042.1_Silent_p.I1071I|KIF16B_ENST00000378003.2_Silent_p.I297I|KIF16B_ENST00000355755.3_Silent_p.I1071I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1071					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCAGCTGCTGGATTTCATATT	0.423000													8	40					0	0	1	0	0
CHTF8	54921	broad.mit.edu	37	16	69154382	69154382	+	Silent	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:69154382G>T	ENST00000448552.2	-	4	433	c.312C>A	c.(310-312)atC>atA	p.I104I	CHTF8_ENST00000520529.1_3'UTR|CHTF8_ENST00000522091.1_3'UTR|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000519520.1_3'UTR|CHTF8_ENST00000398235.2_Silent_p.I104I|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000518041.1_Intron	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	104					cell cycle|DNA replication	nucleus	DNA binding										TTTTGAAAAGGATCTTGTCTT	0.537000													7	21					2.0095e-06	2.17451e-06	1	1	0
TLE6	79816	broad.mit.edu	37	19	2989613	2989613	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:2989613C>T	ENST00000246112.4	+	13	1275	c.1074C>T	c.(1072-1074)agC>agT	p.S358S	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Silent_p.S235S	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	235					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	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)		ACCTGGCCAGCGTGAGCGTGT	0.652000													3	26					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40044141	40044141	+	Silent	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:40044141G>C	ENST00000373233.3	-	34	6801	c.6624C>G	c.(6622-6624)ctC>ctG	p.L2208L		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2208					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCCAGCCATTGAGGATGATAG	0.602000													5	28					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1																						CTGGGATGTACGTCTGCGTTG	0.488000													8	22					0	0	1	0	0
PSMC3	5702	broad.mit.edu	37	11	47444224	47444224	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:47444224C>G	ENST00000298852.3	-	8	942	c.785G>C	c.(784-786)gGa>gCa	p.G262A	PSMC3_ENST00000602866.1_Missense_Mutation_p.G246A|PSMC3_ENST00000530912.1_Missense_Mutation_p.G220A	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	262					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCACCATCTCCAATGAACAT	0.567000													8	59					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145567947	145567947	+	Silent	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:145567947G>C	ENST00000296575.3	+	1	775	c.120G>C	c.(118-120)ctG>ctC	p.L40L	HHIP_ENST00000434550.2_Silent_p.L40L|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	40	Arg-rich.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAAGGTGCCTGAATGGGAACC	0.577000													6	33					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144390270	144390270	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:144390270G>C	ENST00000262995.4	+	11	2530	c.2103G>C	c.(2101-2103)aaG>aaC	p.K701N	GAB1_ENST00000262994.4_Missense_Mutation_p.K671N|GAB1_ENST00000505913.1_Missense_Mutation_p.K568N	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	671					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TGGCTCTAAAGAGTACCCGGG	0.458000													10	25					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144099025	144099025	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:144099025C>T	ENST00000467773.1	-	3	228	c.229G>A	c.(229-231)Gag>Aag	p.E77K	NOBOX_ENST00000483238.1_Missense_Mutation_p.E77K|NOBOX_ENST00000223140.5_Intron	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	77					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TCAGGTATCTCTAAGGGATCA	0.502000													8	34					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124811833	124811833	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:124811833G>A	ENST00000334705.7	+	17	1880	c.1634G>A	c.(1633-1635)gGa>gAa	p.G545E	FAM91A1_ENST00000521166.1_Missense_Mutation_p.G545E	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	545										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ACTGGACAAGGACCACCATCC	0.393000													19	93					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110520098	110520098	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:110520098C>T	ENST00000378402.5	+	69	11305	c.11201C>T	c.(11200-11202)cCt>cTt	p.P3734L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3734					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTAGAATTCCTGTCACTGAG	0.378000										HNSCC(38;0.096)			12	47					0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133732866	133732866	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:133732866G>C	ENST00000248211.6	+	5	1256	c.1034G>C	c.(1033-1035)gGa>gCa	p.G345A	ZNF10_ENST00000426665.2_Missense_Mutation_p.G345A|ZNF10_ENST00000402932.2_Missense_Mutation_p.G211A|ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACTCATACAGGAGACAAACTG	0.413000													22	62					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230845796	230845796	+	Silent	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:230845796C>A	ENST00000366667.4	-	2	1015	c.801G>T	c.(799-801)ctG>ctT	p.L267L		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	267					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TGGCTCCCATCAGGGAGCAGC	0.547000													33	68					4.3181e-19	4.8867e-19	1	1	0
WNT3A	89780	broad.mit.edu	37	1	228210553	228210553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:228210553G>A	ENST00000284523.1	+	2	335	c.257G>A	c.(256-258)tGg>tAg	p.W86*	WNT3A_ENST00000366753.2_Nonsense_Mutation_p.W86*	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	86					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GGCCGCCGGTGGAACTGCACC	0.642000													15	19					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6506090	6506090	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:6506090G>A	ENST00000276893.5	+	16	2488	c.2320G>A	c.(2320-2322)Gat>Aat	p.D774N	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	774					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TTGCCGGCATGATCTTGGCCA	0.448000													16	52					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31526849	31526849	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:31526849G>C	ENST00000511367.2	-	4	435	c.191C>G	c.(190-192)tCa>tGa	p.S64*	DROSHA_ENST00000442743.1_Nonsense_Mutation_p.S64*|DROSHA_ENST00000513349.1_Nonsense_Mutation_p.S64*|DROSHA_ENST00000344624.3_Nonsense_Mutation_p.S64*	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	64	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGGAGAGTTTGAGAAAGTGGT	0.572000													6	8					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65186457	65186457	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:65186457C>T	ENST00000358691.5	-	10	738	c.572G>A	c.(571-573)gGa>gAa	p.G191E	HELZ_ENST00000580662.1_5'UTR|HELZ_ENST00000580168.1_Missense_Mutation_p.G191E	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCTACAGATTCCTTGTTCTAA	0.373000													67	129					0	0	1	0	0
C8orf59	401466	broad.mit.edu	37	8	86129720	86129720	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:86129720C>T	ENST00000417663.2	-	2	80	c.9G>A	c.(7-9)aaG>aaA	p.K3K	C8orf59_ENST00000431163.2_Silent_p.K3K|C8orf59_ENST00000518091.1_Silent_p.K3K|C8orf59_ENST00000458398.2_Silent_p.K3K|C8orf59_ENST00000518562.1_Silent_p.K3K|C8orf59_ENST00000421308.2_Silent_p.K3K|C8orf59_ENST00000321777.5_Silent_p.K3K|C8orf59_ENST00000524353.1_Silent_p.K3K|C8orf59_ENST00000545322.1_Silent_p.K3K	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	3																	TTAATTTGTTCTTGGCCATTG	0.313000													6	71					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199718	71199718	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr14:71199718C>A	ENST00000554752.2	-	11	2367	c.2368G>T	c.(2368-2370)Gag>Tag	p.E790*	MAP3K9_ENST00000554146.1_Nonsense_Mutation_p.E518*|MAP3K9_ENST00000381250.4_Nonsense_Mutation_p.E767*|MAP3K9_ENST00000555993.2_Nonsense_Mutation_p.E804*|MAP3K9_ENST00000553414.1_Nonsense_Mutation_p.E523*	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	790					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)		CTTTTCTTCTCCTCCCGGGCT	0.612000													14	43					1.52009e-12	1.69121e-12	1	1	0
NUP210	23225	broad.mit.edu	37	3	13417811	13417811	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:13417811G>C	ENST00000254508.5	-	10	1355	c.1273C>G	c.(1273-1275)Ctc>Gtc	p.L425V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	425					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ACAGAGGTGAGGGCCGCGTCA	0.597000													11	121					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040702	107040702	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:107040702C>T	ENST00000409886.3	-	20	3808	c.3721G>A	c.(3721-3723)Gaa>Aaa	p.E1241K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1241K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1241					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCAGTGTTTTCAGCATTGGGT	0.428000													15	298					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2452671	2452671	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:2452671C>G	ENST00000378466.3	-	3	303	c.291G>C	c.(289-291)gaG>gaC	p.E97D	PANK4_ENST00000435556.3_Missense_Mutation_p.E97D	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	97					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TGTAGGTATTCTCAAACTTAA	0.502000													10	86					0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44845997	44845997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:44845997G>A	ENST00000225512.5	-	4	919	c.757C>T	c.(757-759)Cga>Tga	p.R253*		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	253					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ACCCAGCCTCGGGACTCACGG	0.602000													54	18					0	0	1	0	0
GHRL	51738	broad.mit.edu	37	3	10328481	10328481	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:10328481C>G	ENST00000335542.8	-	5	1111	c.241G>C	c.(241-243)Gat>Cat	p.D81H	GHRL_ENST00000422159.1_Intron|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000437422.2_Missense_Mutation_p.D69H|GHRL_ENST00000457360.1_Missense_Mutation_p.D81H|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000439975.2_Missense_Mutation_p.D30H|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000287656.7_Missense_Mutation_p.D80H|GHRL_ENST00000450603.1_Missense_Mutation_p.D81H|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000430179.1_Missense_Mutation_p.D80H|GHRL_ENST00000449238.2_Missense_Mutation_p.D68H|GHRL_ENST00000449554.2_Missense_Mutation_p.D80H|GHRL_ENST00000476283.1_5'UTR|GHRL_ENST00000429122.1_Missense_Mutation_p.D81H			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	81					actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						ATTCCAACATCAAAGGGGGCG	0.587000											OREG0015386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	32					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196381493	196381493	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:196381493C>T	ENST00000328557.4	+	2	286	c.83C>T	c.(82-84)gCa>gTa	p.A28V		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		ACAGCCACAGCAGCCTCCCAA	0.567000													5	64					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111602964	111602964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:111602964C>T	ENST00000431670.2	+	2	451	c.40C>T	c.(40-42)Caa>Taa	p.Q14*	PHLDB2_ENST00000393923.3_Nonsense_Mutation_p.Q41*|PHLDB2_ENST00000477695.1_Nonsense_Mutation_p.Q14*|PHLDB2_ENST00000478922.1_Nonsense_Mutation_p.Q14*|PHLDB2_ENST00000481953.1_Nonsense_Mutation_p.Q14*|PHLDB2_ENST00000412622.1_Nonsense_Mutation_p.Q14*|PHLDB2_ENST00000393925.3_Nonsense_Mutation_p.Q14*	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	14						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCTAGATTTACAAAATGGTAG	0.368000													67	110					0	0	1	0	0
ZNF396	252884	broad.mit.edu	37	18	32948328	32948328	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr18:32948328G>A	ENST00000306346.1	-	5	1120	c.989C>T	c.(988-990)tCa>tTa	p.S330L		NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	0					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TCTGCCTCCTGAAAGTGACCT	0.378000													20	53					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121976023	121976023	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:121976023G>A	ENST00000498619.1	+	3	719	c.281G>A	c.(280-282)gGa>gAa	p.G94E	CASR_ENST00000296154.5_Missense_Mutation_p.G94E|CASR_ENST00000490131.1_Missense_Mutation_p.G94E	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	94					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTGACGCTGGGATACAGGATA	0.448000													25	97					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638607	179638607	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:179638607G>C	ENST00000589042.1	-	31	7512	c.7288C>G	c.(7288-7290)Cca>Gca	p.P2430A	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P2384A|TTN_ENST00000360870.5_Missense_Mutation_p.P2430A|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P2430A|TTN_ENST00000342992.6_Missense_Mutation_p.P2430A|TTN_ENST00000359218.5_Missense_Mutation_p.P2384A|TTN_ENST00000460472.2_Missense_Mutation_p.P2384A|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2152	Ig-like 13.|Ig-like 14.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAGGGCTGGAATGGTGAAA	0.403000													18	94					0	0	1	0	0
HIF1AN	55662	broad.mit.edu	37	10	102304757	102304757	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:102304757G>C	ENST00000299163.6	+	4	727	c.627G>C	c.(625-627)caG>caC	p.Q209H		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor		Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		TTTTTGCTCAGATAAAAGGTT	0.443000													10	46					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194167800	194167800	+	Silent	SNP	T	T	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:194167800T>C	ENST00000439040.1	-	14	2144	c.1353A>G	c.(1351-1353)acA>acG	p.T451T	ATP13A3_ENST00000256031.4_Silent_p.T451T			Q9H7F0	AT133_HUMAN	ATPase type 13A3	451					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCACAGTAATTGTGATAATAT	0.363000													23	79					0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136699359	136699359	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:136699359A>G	ENST00000329582.4	+	2	389	c.140A>G	c.(139-141)aAc>aGc	p.N47S	IL20RB_ENST00000484501.1_Intron|IL20RB-AS1_ENST00000462176.2_RNA|IL20RB_ENST00000309741.5_5'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	47	Fibronectin type-III 1.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CTCTCAACCAACATGAAGCAT	0.498000													42	81					0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41870427	41870427	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:41870427G>A	ENST00000196371.5	-	1	194	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	OXCT1-AS1_ENST00000508458.1_RNA	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	12					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GCGCAGAGCCGAAGCCCGGAG	0.657000													7	22					0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30198213	30198213	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:30198213G>A	ENST00000219150.5	+	4	703	c.398G>A	c.(397-399)cGt>cAt	p.R133H	CORO1A_ENST00000565497.1_Missense_Mutation_p.R133H|CORO1A_ENST00000570045.1_Missense_Mutation_p.R133H	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	133					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CACACCAAGCGTGTGGGCATT	0.682000													4	25					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32972428	32972428	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr13:32972428G>C	ENST00000544455.1	+	27	10005	c.9778G>C	c.(9778-9780)Gat>Cat	p.D3260H	BRCA2_ENST00000380152.3_Missense_Mutation_p.D3260H	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3260					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAAAGAGATTGATGACCAAAA	0.428000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			18	373					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56247665	56247665	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr18:56247665G>C	ENST00000361673.3	-	4	556	c.343C>G	c.(343-345)Cct>Gct	p.P115A		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	115							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCCAGGTTAGGAGACAATTGT	0.433000													18	91					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70016573	70016573	+	RNA	SNP	G	G	A	rs3748384	by1000genomes	TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:70016573G>A	ENST00000531894.1	-	0	2361				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1																						TCCTGTCTACGGCGGTTGGAC	0.483000													3	26					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126400924	126400924	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:126400924C>T	ENST00000394329.3	+	14	12515	c.12502C>T	c.(12502-12504)Cgc>Tgc	p.R4168C	FAT4_ENST00000335110.5_Intron	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4168	EGF-like 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGCTTGTACTCGCAGCCCATG	0.418000													4	15					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34922623	34922623	+	Silent	SNP	G	G	A	rs143771064	byFrequency	TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr21:34922623G>A	ENST00000356577.4	+	3	1561	c.1086G>A	c.(1084-1086)ccG>ccA	p.P362P	SON_ENST00000381679.4_Silent_p.P362P|SON_ENST00000290239.6_Silent_p.P362P|SON_ENST00000300278.4_Silent_p.P362P|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	362					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGGAGTTGCCGGAGCTGCCTA	0.587000													4	82					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33238473	33238473	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:33238473G>A	ENST00000401073.2	+	7	3340	c.3270G>A	c.(3268-3270)caG>caA	p.Q1090Q	KIAA1522_ENST00000373481.3_Silent_p.Q1042Q|KIAA1522_ENST00000373480.1_Silent_p.Q1031Q|KIAA1522_ENST00000294521.3_Silent_p.Q139Q	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	1031										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGACTCACAGAAAGAGCTGG	0.557000											OREG0013333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	27					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151278680	151278680	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:151278680T>C	ENST00000368875.2	-	6	1958	c.1378A>G	c.(1378-1380)Act>Gct	p.T460A	PI4KB_ENST00000368873.1_Missense_Mutation_p.T448A|PI4KB_ENST00000368874.4_Missense_Mutation_p.T433A|PI4KB_ENST00000529142.1_Missense_Mutation_p.T116A|PI4KB_ENST00000368872.1_Missense_Mutation_p.T433A|PI4KB_ENST00000271657.5_Missense_Mutation_p.T460A	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	448					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGGGCACAGTGCTGAAGCTG	0.572000													68	42					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111427113	111427113	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:111427113G>A	ENST00000535254.1	-	5	491	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	BUB1_ENST00000409311.1_Silent_p.L162L|BUB1_ENST00000302759.6_Silent_p.L162L	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	162	BUB1 N-terminal.|Necessary for kinetochore localization.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ACATTATGCAGAGGTTCTGAG	0.328000													6	47					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9570272	9570272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr18:9570272C>A	ENST00000400556.3	-	11	1529	c.1456G>T	c.(1456-1458)Gag>Tag	p.E486*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.E469*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	486					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GATTCTTCCTCTGGTCCCTCT	0.483000													9	39					1.76689e-08	1.94391e-08	1	1	0
SIRPB1	10326	broad.mit.edu	37	20	1551465	1551465	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:1551465G>C	ENST00000381605.4	-	4	1134	c.1070C>G	c.(1069-1071)tCa>tGa	p.S357*	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	357					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGTGATATCTGAGCCGTGCTC	0.443000													13	80					0	0	1	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524501	73524501	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chrX:73524501G>T	ENST00000339534.2	+	1	477	c.400G>T	c.(400-402)Ggc>Tgc	p.G134C		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	134							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						TTACCGATGCGGCGAGATTGG	0.557000													4	21					0.00024832	0.000261552	1	1	0
MAGOH	4116	broad.mit.edu	37	1	53701308	53701308	+	Splice_Site	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:53701308C>T	ENST00000371470.3	-	2	250		c.e2-1		MAGOH_ENST00000462941.1_Splice_Site|MAGOH_ENST00000371466.4_Splice_Site	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)						mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						CTTAACTTCCCTGTGGGGGCA	0.378000													10	65					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14563282	14563282	+	RNA	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:14563282C>T	ENST00000273083.3	-	0	644							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGCCCACCTTCAGGGAGCCCT	0.701000													5	42					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242432771	242432771	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:242432771G>A	ENST00000264042.3	+	26	3129	c.2959G>A	c.(2959-2961)Gat>Aat	p.D987N	STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	987	PH 2.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CAGGGAGGCCGATGGCATACA	0.542000													14	22					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804642	27804642	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:27804642C>T	ENST00000408964.2	+	1	5254	c.5203C>T	c.(5203-5205)Cac>Tac	p.H1735Y		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1735	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGAAGCCATCACAGTCCCTC	0.557000													37	208					0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516381	27516381	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:27516381G>A	ENST00000301904.3	+	5	714	c.694G>A	c.(694-696)Gag>Aag	p.E232K	SCARA3_ENST00000337221.4_Missense_Mutation_p.E232K	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	232					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GCAGACTTCCGAGTGGATCCA	0.592000													5	15					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212604	50212604	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr15:50212604A>C	ENST00000284509.6	-	18	1903	c.1762T>G	c.(1762-1764)Ttt>Gtt	p.F588V	ATP8B4_ENST00000559829.1_Missense_Mutation_p.F588V	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	588					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCCCCTGCAAATTCCTGCCAG	0.408000													4	34					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77375605	77375605	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:77375605C>A	ENST00000282849.5	-	11	2124	c.1706G>T	c.(1705-1707)aGt>aTt	p.S569I		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	569	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GTTTACCATACTCAAGCCACA	0.418000													3	19					0.115264	0.116442	1	1	0
LSMD1	84316	broad.mit.edu	37	17	7760401	7760401	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:7760401C>G	ENST00000333775.5	-	1	771	c.341G>C	c.(340-342)tGc>tCc	p.C114S	LSMD1_ENST00000335155.5_Missense_Mutation_p.C66S|LSMD1_ENST00000576861.1_Missense_Mutation_p.C40S|LSMD1_ENST00000575208.1_Missense_Mutation_p.C14S|LSMD1_ENST00000575771.1_Missense_Mutation_p.C14S|LSMD1_ENST00000575071.1_Missense_Mutation_p.C14S|LSMD1_ENST00000576384.1_Missense_Mutation_p.C14S	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN	LSM domain containing 1	66						cytoplasm|nucleus				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				GCAGAGGAAGCAGCCGACCAG	0.642000											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	58					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32961861	32961861	+	Missense_Mutation	SNP	C	C	T	rs144686427	byFrequency	TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:32961861C>T	ENST00000321639.5	+	8	1790	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	488						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GGAGGAGGAGCGGCGGCAGAG	0.617000													3	19					0	0	1	0	0
PHKG2	5261	broad.mit.edu	37	16	30767796	30767796	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:30767796C>T	ENST00000563588.1	+	8	995	c.756C>T	c.(754-756)ttC>ttT	p.F252F	PHKG2_ENST00000328273.7_Silent_p.F256F|PHKG2_ENST00000424889.3_Silent_p.F252F	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	252	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			AGTACCAGTTCAGTTCCCCCG	0.612000													7	32					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52661333	52661333	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:52661333C>T	ENST00000356770.4	-	12	1403	c.1401G>A	c.(1399-1401)atG>atA	p.M467I	PBRM1_ENST00000409767.1_Missense_Mutation_p.M499I|PBRM1_ENST00000410007.1_Missense_Mutation_p.M499I|PBRM1_ENST00000409114.3_Missense_Mutation_p.M499I|PBRM1_ENST00000337303.4_Missense_Mutation_p.M499I|PBRM1_ENST00000409057.1_Missense_Mutation_p.M499I|PBRM1_ENST00000296302.7_Missense_Mutation_p.M499I|PBRM1_ENST00000394830.3_Missense_Mutation_p.M499I			Q86U86	PB1_HUMAN	polybromo 1	499	Bromo 3.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGAAGAGATCATGCTGTCTC	0.438000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								7	55					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44793194	44793194	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:44793194G>C	ENST00000291182.4	-	5	496	c.394C>G	c.(394-396)Cag>Gag	p.Q132E	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TTGGGGAACTGAGAGCTCTTT	0.453000													20	184					0	0	1	0	0
TMEM222	84065	broad.mit.edu	37	1	27660657	27660657	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:27660657G>A	ENST00000374076.4	+	5	462	c.424G>A	c.(424-426)Gac>Aac	p.D142N	TMEM222_ENST00000608611.1_Missense_Mutation_p.D109N	NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	142						integral to membrane	protein binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TCTCTGCTGTGACAACTGCCA	0.612000													6	30					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757774	242757774	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:242757774C>T	ENST00000391969.2	+	5	1566	c.855C>T	c.(853-855)gcC>gcT	p.A285A	NEU4_ENST00000325935.6_Silent_p.A298A|NEU4_ENST00000407683.1_Silent_p.A285A|NEU4_ENST00000405370.1_Silent_p.A285A|NEU4_ENST00000404257.1_Silent_p.A297A	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	285	Pro-rich.					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GCTTCCCAGCCCCCGCCCCCA	0.701000													3	7					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565515	24565515	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:24565515G>C	ENST00000376862.3	+	3	1137	c.504G>C	c.(502-504)gaG>gaC	p.E168D		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	168					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCGACACAGAGAGTGAGGACA	0.562000													14	62					0	0	1	0	0
ANXA7	310	broad.mit.edu	37	10	75135976	75135976	+	Splice_Site	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:75135976C>G	ENST00000372921.5	-	13	1335		c.e13-1		ANXA7_ENST00000535178.1_Splice_Site	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7								calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CAAGGTCAATCTGCATAAGAA	0.328000													4	18					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47685237	47685237	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr21:47685237C>T	ENST00000397708.1	-	13	3486	c.3232G>A	c.(3232-3234)Gag>Aag	p.E1078K	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1078K			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1078					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.E1078K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTCCCTACCTCGTCAGAGTAC	0.607000													3	13					0	0	1	0	0
PTPN2	5771	broad.mit.edu	37	18	12814342	12814342	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr18:12814342C>T	ENST00000309660.5	-	7	811	c.718G>A	c.(718-720)Gat>Aat	p.D240N	PTPN2_ENST00000591115.1_Missense_Mutation_p.D263N|PTPN2_ENST00000327283.3_Missense_Mutation_p.D240N|PTPN2_ENST00000353319.4_Missense_Mutation_p.D240N|PTPN2_ENST00000591497.1_Missense_Mutation_p.D211N	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	240	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				TTAATATCATCTCCTTTTTCC	0.353000													4	13					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588549	247588549	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:247588549C>T	ENST00000366497.2	+	4	2584	c.1804C>T	c.(1804-1806)Cag>Tag	p.Q602*	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.Q602*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.Q602*|NLRP3_ENST00000336119.3_Nonsense_Mutation_p.Q602*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.Q602*|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.Q602*	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	602					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAAGATCTCTCAGCAAATCAG	0.443000													13	20					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64520630	64520630	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:64520630T>C	ENST00000164139.3	-	12	1831	c.1433A>G	c.(1432-1434)cAt>cGt	p.H478R	PYGM_ENST00000377432.3_Missense_Mutation_p.H390R	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	478					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CTGGAACTTATGAGGCTCCAG	0.582000													27	132					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26151212	26151212	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr13:26151212G>A	ENST00000381655.2	+	20	1860	c.1718G>A	c.(1717-1719)aGa>aAa	p.R573K	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.R533K	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	533					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCCAGTGACAGAAAAAGAATG	0.453000													17	120					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43625502	43625502	+	RNA	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:43625502C>T	ENST00000586348.1	+	0	45																											GGTTTAACCTCTGTAGTAGGT	0.507000													61	166					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TTCTCTTCCTCTGTGCGCCGG	0.562000		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)			11	13					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49061176	49061176	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr15:49061176G>C	ENST00000380950.2	-	14	2072	c.1885C>G	c.(1885-1887)Caa>Gaa	p.Q629E	CEP152_ENST00000399334.3_Missense_Mutation_p.Q629E|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Missense_Mutation_p.Q536E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	629					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGTAAAACTTGAATTTCATTT	0.264000													3	12					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436504	56436504	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:56436504C>T	ENST00000327381.6	+	3	1771	c.1671C>T	c.(1669-1671)agC>agT	p.S557S		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane		p.S557S(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GTGTTGTCAGCGACCGCGATC	0.592000													16	44					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38948779	38948779	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:38948779C>A	ENST00000355481.4	+	18	2145	c.2014C>A	c.(2014-2016)Cca>Aca	p.P672T	RYR1_ENST00000360985.3_Missense_Mutation_p.P672T|RYR1_ENST00000359596.3_Missense_Mutation_p.P672T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	672	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGAGGTGACTCCATTTCTGAC	0.647000													10	130					0.000673444	0.000703085	1	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209478	140209478	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:140209478C>T	ENST00000529310.1	+	1	1916	c.1802C>T	c.(1801-1803)tCa>tTa	p.S601L	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCCGACTCAGGCTACAAC	0.662000													12	44					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21826335	21826335	+	RNA	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:21826335C>T	ENST00000426869.3	+	0	518					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		CCCCTTATGCCCGTGGCGGTG	0.572000													4	13					0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19748503	19748503	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:19748503G>A	ENST00000222567.5	-	1	207	c.137C>T	c.(136-138)tCa>tTa	p.S46L		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	46						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CACCAGGCATGAGTAGCGACT	0.622000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	34					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136403065	136403065	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:136403065C>G	ENST00000264160.4	+	16	1961	c.1591C>G	c.(1591-1593)Caa>Gaa	p.Q531E	R3HDM1_ENST00000329971.3_Missense_Mutation_p.Q402E|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000410054.1_Missense_Mutation_p.Q475E|R3HDM1_ENST00000409478.1_Missense_Mutation_p.Q402E|R3HDM1_ENST00000409606.1_Missense_Mutation_p.Q531E	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	531							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGCCCCACCTCAACAACCAGC	0.463000													7	54					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040765	107040765	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:107040765C>G	ENST00000409886.3	-	20	3745	c.3658G>C	c.(3658-3660)Gaa>Caa	p.E1220Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1220Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1220					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCCTTATTTTCTTCCTCAGCG	0.418000													26	307					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77649121	77649121	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:77649121G>A	ENST00000354212.4	-	22	4132	c.3879C>T	c.(3877-3879)gaC>gaT	p.D1293D	MAGI2_ENST00000419488.1_Silent_p.D1279D|MAGI2_ENST00000522391.1_3'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1293						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTTTCCTAACGTCGTGTTCCC	0.637000													9	46					0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151316349	151316349	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:151316349C>A	ENST00000290524.4	-	9	743	c.565G>T	c.(565-567)Ggc>Tgc	p.G189C	RFX5_ENST00000452513.2_Missense_Mutation_p.G149C|RFX5_ENST00000452671.2_Missense_Mutation_p.G189C|RFX5_ENST00000368870.2_Missense_Mutation_p.G189C	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	189						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTTCTGGGCCCATTTCTGGC	0.532000													9	75					3.09899e-07	3.38434e-07	1	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20870079	20870079	+	Silent	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:20870079G>T	ENST00000381552.1	+	7	1058	c.690G>T	c.(688-690)acG>acT	p.T230T	SLCO1C1_ENST00000540354.1_Silent_p.T181T|SLCO1C1_ENST00000266509.2_Silent_p.T230T|SLCO1C1_ENST00000545604.1_Silent_p.T230T|SLCO1C1_ENST00000545102.1_Silent_p.T112T			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	230					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GTGTGCAGACGGTTGCAATTA	0.333000													7	38					8.12818e-05	8.59182e-05	1	1	0
ATP11A	23250	broad.mit.edu	37	13	113510380	113510380	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr13:113510380C>T	ENST00000487903.1	+	20	2487	c.2399C>T	c.(2398-2400)gCg>gTg	p.A800V	ATP11A_ENST00000375645.3_Missense_Mutation_p.A800V|ATP11A_ENST00000283558.8_Missense_Mutation_p.A800V|ATP11A_ENST00000375630.2_Missense_Mutation_p.A800V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	800					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGCCGCATGGCGCCCTTGCAG	0.607000													26	99					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6505989	6505989	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:6505989G>A	ENST00000377828.1	+	7	1626	c.1458G>A	c.(1456-1458)aaG>aaA	p.K486K	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	486	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		AGGCCCTCAAGAAGGAGGTAG	0.622000													5	35					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97215195	97215195	+	Splice_Site	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:97215195G>C	ENST00000454558.2	+	3	1231	c.54G>C	c.(52-54)caG>caC	p.Q18H	ARID5A_ENST00000357485.3_Splice_Site_p.Q86H			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	86					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GCTTCAAGCAGAGTGCGTCCC	0.677000													16	49					0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75119166	75119166	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr15:75119166G>T	ENST00000395018.4	+	1	279	c.122G>T	c.(121-123)cGg>cTg	p.R41L	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	41						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						GGCATGAGCCGGGAGGAGTAC	0.627000													4	22					0.014758	0.0150628	1	1	0
GLTPD1	80772	broad.mit.edu	37	1	1262984	1262984	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:1262984C>T	ENST00000343938.4	+	3	897	c.486C>T	c.(484-486)ttC>ttT	p.F162F	GLTPD1_ENST00000464957.1_3'UTR	NM_001029885.1	NP_001025056.1	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	162						cytoplasm	glycolipid binding|glycolipid transporter activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCGTGGCCTTCTGCACGCTGC	0.716000													3	15					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112327853	112327853	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:112327853G>A	ENST00000389063.2	+	3	439	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.E81K	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	81					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		GCCTCAAGGTGAAGATGTGGA	0.348000													53	52					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110920	55110920	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:55110920G>T	ENST00000314721.2	+	1	294	c.244G>T	c.(244-246)Gac>Tac	p.D82Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D82Y(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATTGATGATAGACTTACTCTG	0.458000													27	147					1.5548e-18	1.75618e-18	1	1	0
TRAM2	9697	broad.mit.edu	37	6	52381530	52381530	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:52381530C>T	ENST00000182527.3	-	3	189	c.190G>A	c.(190-192)Gag>Aag	p.E64K	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	64					collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					TGCACGGTCTCACTGTCTGTG	0.483000													6	54					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61655066	61655066	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:61655066C>G	ENST00000423902.2	+	2	1554	c.1075C>G	c.(1075-1077)Caa>Gaa	p.Q359E	CHD7_ENST00000524602.1_Missense_Mutation_p.Q359E|CHD7_ENST00000525508.1_Missense_Mutation_p.Q359E	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	359					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAACAGTGGTCAAGGACTAAT	0.453000													7	36					0	0	1	0	0
ZNF17	7565	broad.mit.edu	37	19	57931662	57931662	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:57931662C>G	ENST00000307658.7	+	4	1071	c.808C>G	c.(808-810)Cac>Gac	p.H270D	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.H268D			P17021	ZNF17_HUMAN	zinc finger protein 17	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CCAGAAAATTCACACTGGAGA	0.433000													11	42					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64587670	64587670	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:64587670G>A	ENST00000498707.1	-	26	4309	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1295C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1323					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACATGGGTGCGGCTGGGGCTG	0.572000													14	46					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144814452	144814452	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:144814452T>G	ENST00000367545.3	+	32	4453	c.4453T>G	c.(4453-4455)Ttg>Gtg	p.L1485V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1485	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTATAAAACTTTGAGTGAAGT	0.388000													14	38					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804528	27804528	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:27804528C>A	ENST00000408964.2	+	1	5140	c.5089C>A	c.(5089-5091)Ccc>Acc	p.P1697T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1697	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACATCGCAGTCCCTCTCAGAG	0.587000													41	183					3.61848e-18	4.07939e-18	1	1	0
PAPOLA	10914	broad.mit.edu	37	14	97022562	97022562	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr14:97022562C>A	ENST00000216277.8	+	19	2036	c.1816C>A	c.(1816-1818)Cca>Aca	p.P606T	PAPOLA_ENST00000392990.2_Missense_Mutation_p.P606T	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	606	Ser/Thr-rich.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGCCATTTCTCCACCACCAAA	0.423000													16	85					1.33834e-09	1.48343e-09	1	1	0
BDP1	55814	broad.mit.edu	37	5	70845431	70845431	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:70845431G>A	ENST00000358731.4	+	34	7256	c.6993G>A	c.(6991-6993)atG>atA	p.M2331I	BDP1_ENST00000380675.2_Intron	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2331					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGGGTGACATGAGGTAACGAA	0.388000													3	30					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210315	37210315	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:37210315G>C	ENST00000585696.1	+	3	1826	c.596G>C	c.(595-597)aGa>aCa	p.R199T	ZNF567_ENST00000536254.2_Missense_Mutation_p.R230T|ZNF567_ENST00000588311.1_Missense_Mutation_p.R199T|ZNF567_ENST00000360729.4_Missense_Mutation_p.R199T|ZNF567_ENST00000392163.2_Missense_Mutation_p.R199T|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACACATAGTAGACCTTACAAA	0.358000													6	44					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577599	7577599	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:7577599C>T	ENST00000420246.2	-	7	814	c.682G>A	c.(682-684)Gac>Aac	p.D228N	TP53_ENST00000455263.2_Missense_Mutation_p.D228N|TP53_ENST00000413465.2_Missense_Mutation_p.D228N|TP53_ENST00000445888.2_Missense_Mutation_p.D228N|TP53_ENST00000269305.4_Missense_Mutation_p.D228N|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.D228N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	228	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.D228N(6)|p.?(5)|p.D228Y(2)|p.G226_D228delGSD(1)|p.D228fs*1(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.D228fs*11(1)|p.S227_I232delSDCTTI(1)|p.D228H(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)		GTGGTACAGTCAGAGCCAACC	0.522000		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)			9	17					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19329770	19329770	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:19329770G>A	ENST00000252575.6	+	3	219	c.120G>A	c.(118-120)caG>caA	p.Q40Q		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCCACATGCAGAAGCTGGGGT	0.637000													6	32					0	0	1	0	0
KLC3	147700	broad.mit.edu	37	19	45853770	45853770	+	Splice_Site	SNP	A	A	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:45853770A>G	ENST00000470402.1	+	9	1376		c.e9-1		ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000391946.2_Splice_Site|KLC3_ENST00000585434.1_Splice_Site			Q6P597	KLC3_HUMAN	kinesin light chain 3							cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTTTCCCCCTAGGTGCCCCCA	0.652000													23	131					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34077330	34077330	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:34077330C>T	ENST00000254466.6	-	2	420	c.393G>A	c.(391-393)ctG>ctA	p.L131L	GAS2L2_ENST00000587565.1_Silent_p.L131L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	131	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTCGAACATCAGCACCTCTG	0.652000													17	53					0	0	1	0	0
PDIA2	64714	broad.mit.edu	37	16	335329	335329	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:335329C>T	ENST00000219406.6	+	6	831	c.813C>T	c.(811-813)ttC>ttT	p.F271F	PDIA2_ENST00000404312.1_Silent_p.F268F|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	271					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCAAGATCTTCGCGGCCAGGA	0.642000													3	19					0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49705096	49705096	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:49705096G>A	ENST00000433368.2	-	2	152	c.83C>T	c.(82-84)cCa>cTa	p.P28L	CRISP3_ENST00000371159.4_Missense_Mutation_p.P36L|CRISP3_ENST00000393666.1_Missense_Mutation_p.P5L|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000263045.4_Missense_Mutation_p.P18L	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	5					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CAACAGCACTGGGAATAATGT	0.433000													5	31					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79898501	79898501	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:79898501G>A	ENST00000360280.3	+	31	3534	c.3274G>A	c.(3274-3276)Gaa>Aaa	p.E1092K	VPS13A_ENST00000376636.3_Missense_Mutation_p.E1053K|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.E1092K|VPS13A_ENST00000357409.5_Missense_Mutation_p.E1092K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1092					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTCAGAAACTGAAATAAACGC	0.284000													4	39					0	0	1	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183611	11183611	+	Silent	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:11183611G>C	ENST00000390675.2	-	1	395	c.324C>G	c.(322-324)ctC>ctG	p.L108L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	108					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						TGGCAATCTTGAGCAAATAAA	0.393000													22	75					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170077566	170077566	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:170077566G>C	ENST00000284637.9	-	3	999	c.658C>G	c.(658-660)Cca>Gca	p.P220A	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	220	SH3 2.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TTTGCAAATGGAAGGCAATCT	0.418000													6	62					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19258867	19258867	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:19258867C>G	ENST00000527884.1	-	4	677	c.445G>C	c.(445-447)Gaa>Caa	p.E149Q	E2F8_ENST00000250024.4_Missense_Mutation_p.E149Q|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	149					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTACTAAGTTCCTCTGCCACT	0.393000													6	32					0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130569313	130569313	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:130569313G>C	ENST00000373245.1	+	5	498	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	FPGS_ENST00000373247.2_Missense_Mutation_p.E150Q|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.E150Q|FPGS_ENST00000373225.3_Missense_Mutation_p.E100Q			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	150					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	CATCAGTCCTGAGCTCTTCAC	0.642000													8	35					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72968708	72968708	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:72968708C>G	ENST00000264839.7	+	18	2947	c.2947C>G	c.(2947-2949)Cca>Gca	p.P983A	RIMS1_ENST00000348717.5_Missense_Mutation_p.P982A|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000518273.1_Missense_Mutation_p.P983A|RIMS1_ENST00000491071.2_Missense_Mutation_p.P983A|RIMS1_ENST00000517960.1_Missense_Mutation_p.P982A|RIMS1_ENST00000522291.1_Missense_Mutation_p.P982A|RIMS1_ENST00000425662.2_Missense_Mutation_p.P376A|RIMS1_ENST00000520567.1_Missense_Mutation_p.P982A|RIMS1_ENST00000401910.3_Missense_Mutation_p.P456A|RIMS1_ENST00000523963.1_Missense_Mutation_p.P457A|RIMS1_ENST00000521978.1_Missense_Mutation_p.P983A|RIMS1_ENST00000517827.1_Missense_Mutation_p.P442A			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	983					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGAAATTCATCCAACAAGAAG	0.388000													4	39					0	0	1	0	0
IL10RB	3588	broad.mit.edu	37	21	34655451	34655451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr21:34655451G>A	ENST00000290200.2	+	5	659	c.551G>A	c.(550-552)tGg>tAg	p.W184*	AP000295.9_ENST00000433395.2_Missense_Mutation_p.G312R	NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						CTGGAGCCATGGACAACTTAT	0.453000													3	34					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434498	118434498	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:118434498C>A	ENST00000369209.3	-	12	1926	c.1822G>T	c.(1822-1824)Gac>Tac	p.D608Y		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	608							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CTGACGTTGTCGTGCTCAGAG	0.617000													9	39					0.00621372	0.00638602	1	1	0
HINFP	25988	broad.mit.edu	37	11	119005157	119005157	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:119005157C>G	ENST00000350777.2	+	10	1566	c.1503C>G	c.(1501-1503)atC>atG	p.I501M		NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	501	Interaction with NPAT.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAGGGGGCATCATGGAAAAGC	0.562000											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	33					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897728	61897728	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:61897728C>T	ENST00000394818.3	+	4	931	c.729C>T	c.(727-729)ccC>ccT	p.P243P	INCENP_ENST00000278849.4_Silent_p.P243P	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	243					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCAGGACCCCAAGGGTCAAG	0.597000													21	50					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394744	233394744	+	Silent	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:233394744G>C	ENST00000258229.9	-	5	1098	c.864C>G	c.(862-864)gtC>gtG	p.V288V	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGGACAACTGACAGGTTCTG	0.537000													17	32					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61655050	61655050	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:61655050C>G	ENST00000423902.2	+	2	1538	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	CHD7_ENST00000524602.1_Missense_Mutation_p.F353L|CHD7_ENST00000525508.1_Missense_Mutation_p.F353L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	353					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTGTAGGATTCCCATCAAACA	0.438000													10	36					0	0	1	0	0
TRMT10B	158234	broad.mit.edu	37	9	37770008	37770008	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:37770008C>G	ENST00000297994.3	+	6	709	c.644C>G	c.(643-645)tCa>tGa	p.S215*	TRMT10B_ENST00000377753.2_Nonsense_Mutation_p.S137*|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000537911.1_Nonsense_Mutation_p.S164*|TRMT10B_ENST00000377754.2_Nonsense_Mutation_p.S120*	NM_144964.2	NP_659401.2			tRNA methyltransferase 10 homolog B (S. cerevisiae)																		ACTCCTGACTCAGAACACGGT	0.398000													19	139					0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88484947	88484947	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:88484947C>T	ENST00000324166.5	+	7	2869	c.1178C>T	c.(1177-1179)tCa>tTa	p.S393L	THNSL2_ENST00000358591.2_Missense_Mutation_p.S393L|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000377254.3_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	393					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TGCCCCCACTCAGCGGTGGCC	0.582000													5	24					0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978112	45978112	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr21:45978112G>A	ENST00000391620.1	-	1	531	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	163	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CACACGGGGCGGCAGAGGAGG	0.697000													21	56					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72289773	72289773	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:72289773C>T	ENST00000550746.1	+	9	1017	c.953C>T	c.(952-954)tCa>tTa	p.S318L	TBC1D15_ENST00000485960.2_Missense_Mutation_p.S301L|TBC1D15_ENST00000319106.8_Missense_Mutation_p.S309L|TBC1D15_ENST00000393309.3_Missense_Mutation_p.S72L	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	318							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAACCGGTATCACTGGAAGAA	0.318000													6	26					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19969579	19969579	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr22:19969579C>T	ENST00000263207.3	-	4	537	c.246G>A	c.(244-246)acG>acA	p.T82T	ARVCF_ENST00000401994.1_Silent_p.T19T|ARVCF_ENST00000406259.1_Silent_p.T82T|ARVCF_ENST00000344269.3_Silent_p.T19T|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000406522.1_Silent_p.T19T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	82					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CCTCCGGCATCGTGGCCAGTG	0.642000													5	17					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28913591	28913591	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:28913591C>T	ENST00000395503.4	+	17	2592	c.2408C>T	c.(2407-2409)cCa>cTa	p.P803L	ATP2A1_ENST00000357084.3_Missense_Mutation_p.P803L|ATP2A1_ENST00000536376.1_Missense_Mutation_p.P678L	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	803	Interacts with phospholamban 2 (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GACGGGCTCCCAGCCACAGCC	0.662000													16	63					0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365287	30365287	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:30365287C>T	ENST00000305596.3	-	4	485	c.310G>A	c.(310-312)Gat>Aat	p.D104N	CD2BP2_ENST00000569466.1_Missense_Mutation_p.D104N	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	104					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TAGTTGCCATCGGCATCAAAG	0.627000													17	47					0	0	1	0	0
AP1S2	8905	broad.mit.edu	37	X	15870491	15870491	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chrX:15870491C>G	ENST00000380291.1	-	2	273	c.157G>C	c.(157-159)Gat>Cat	p.D53H	AP1S2_ENST00000421527.2_Missense_Mutation_p.D95H|AP1S2_ENST00000329235.2_Missense_Mutation_p.D53H|AP1S2_ENST00000545766.1_Missense_Mutation_p.D95H			P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	53					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					ATCTTCAGATCTCGCCACTCA	0.368000													4	22					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123907177	123907177	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:123907177C>T	ENST00000373855.1	+	21	3368	c.3108C>T	c.(3106-3108)ctC>ctT	p.L1036L	CNTRL_ENST00000373847.1_Silent_p.L484L|CNTRL_ENST00000373850.1_Silent_p.L484L|CNTRL_ENST00000238341.5_Silent_p.L1036L			Q7Z7A1	CNTRL_HUMAN	centriolin	1036					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CCAGAGATCTCACCCGAGCAG	0.537000													12	68					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999548	108999548	+	Splice_Site	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:108999548G>C	ENST00000272452.2	+	4	719		c.e4-1		SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4						3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ATCATTCCCAGATAATCTATG	0.403000													19	75					0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44500277	44500277	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:44500277C>G	ENST00000270014.2	+	5	396	c.268C>G	c.(268-270)Cca>Gca	p.P90A	ZNF155_ENST00000407951.2_Missense_Mutation_p.P101A|ZNF155_ENST00000590615.1_Missense_Mutation_p.P90A	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	90						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGAGTCTGTTCCAGAAGCAGG	0.423000													14	155					0	0	1	0	0
SEPT1	1731	broad.mit.edu	37	16	30390351	30390351	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:30390351C>G	ENST00000321367.3	-	10	1100	c.1055G>C	c.(1054-1056)cGa>cCa	p.R352P	SEPT1_ENST00000571393.1_Missense_Mutation_p.R305P|SEPT1_ENST00000605106.1_Missense_Mutation_p.R310P	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	305					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GCGGCTGGCTCGATCGCGAGC	0.682000													8	25					0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155004261	155004261	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chrX:155004261G>A	ENST00000302805.2	+	2	1159	c.728G>A	c.(727-729)gGa>gAa	p.G243E		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	243	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTACCCGTGGATGCCTCCAT	0.592000													26	171					0	0	1	0	0
GBA2	57704	broad.mit.edu	37	9	35748498	35748498	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:35748498C>T	ENST00000378094.4	-	1	717	c.204G>A	c.(202-204)ctG>ctA	p.L68L	GBA2_ENST00000545786.1_Silent_p.L68L|GBA2_ENST00000378103.3_Silent_p.L68L			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	68					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGAAACCATCAGCTGCCCAG	0.552000													14	136					0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28334028	28334028	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:28334028G>A	ENST00000377255.3	+	7	1880	c.1583G>A	c.(1582-1584)aGa>aAa	p.R528K	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.R380K|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R528K	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	528					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CAACATCAGAGAAGCCATGTA	0.458000													9	55					0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97026340	97026340	+	Silent	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:97026340G>C	ENST00000455200.1	+	12	1741	c.1446G>C	c.(1444-1446)ctG>ctC	p.L482L	NCAPH_ENST00000240423.4_Silent_p.L493L|NCAPH_ENST00000427946.1_Silent_p.L357L			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	493					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CTACTATTCTGACCAAGTCCA	0.393000													12	141					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38028544	38028544	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:38028544C>T	ENST00000377940.3	+	4	501	c.362C>T	c.(361-363)tCa>tTa	p.S121L	ZPBP2_ENST00000348931.4_Missense_Mutation_p.S143L|ZPBP2_ENST00000584588.1_Intron	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	143					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTGATTATTCATATCAGATG	0.333000													36	67					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44131815	44131815	+	Silent	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:44131815G>C	ENST00000222374.2	-	2	240	c.192C>G	c.(190-192)ctC>ctG	p.L64L		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	64	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CATTGAAGAAGAGGGTCTGCC	0.592000													19	169					0	0	1	0	0
TBRG1	84897	broad.mit.edu	37	11	124501252	124501252	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:124501252G>A	ENST00000441174.3	+	8	1233	c.1029G>A	c.(1027-1029)atG>atA	p.M343I	TBRG1_ENST00000375005.4_Missense_Mutation_p.M192I|TBRG1_ENST00000438907.2_3'UTR	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	343					cell cycle arrest|DNA replication|negative regulation of cell proliferation|nucleolus to nucleoplasm transport|protein stabilization	nucleus	DNA binding|protein binding			kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		ATGCAGCTATGAGCTTTGAAG	0.448000													32	93					0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23548949	23548949	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:23548949G>C	ENST00000376979.3	-	1	437	c.139C>G	c.(139-141)Ctc>Gtc	p.L47V		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	47						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GTGGCAGGGAGGTAACGAGCC	0.517000													4	31					0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194877200	194877200	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:194877200G>A	ENST00000310380.6	-	3	871	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	XXYLT1_ENST00000355729.4_Missense_Mutation_p.R52W|XXYLT1_ENST00000429994.1_Missense_Mutation_p.R109W|XXYLT1_ENST00000437101.1_Missense_Mutation_p.R52W	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	255						integral to membrane	transferase activity, transferring glycosyl groups										TGCATCTCCCGGGCTATGCCG	0.577000													12	49					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21141411	21141411	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr18:21141411C>T	ENST00000269228.5	-	5	1098	c.544G>A	c.(544-546)Gac>Aac	p.D182N	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	182					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTACAGGCGTCAGCGTCCTTC	0.493000													24	146					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33056883	33056883	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:33056883G>C	ENST00000397149.3	-	8	997	c.947C>G	c.(946-948)tCt>tGt	p.S316C	SMU1_ENST00000536631.1_Missense_Mutation_p.S155C	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	316						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		GCTATCCTTAGAAAAGCTTAG	0.378000													18	86					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8417519	8417519	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:8417519C>A	ENST00000356406.5	-	3	429	c.352G>T	c.(352-354)Gct>Tct	p.A118S	ACOX3_ENST00000503233.1_Missense_Mutation_p.A118S|ACOX3_ENST00000413009.2_Missense_Mutation_p.A118S	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	118					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TACTTGGCAGCCAGAGAAGAG	0.562000													7	26					8.12818e-05	8.59182e-05	1	1	0
OR6B2	389090	broad.mit.edu	37	2	240969530	240969530	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:240969530G>A	ENST00000402971.2	-	1	376	c.317C>T	c.(316-318)tCc>tTc	p.S106F		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GCACACCAGGGAGCTGAAGAA	0.612000													7	36					0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37913568	37913568	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chrX:37913568C>G	ENST00000357972.5	+	3	768	c.222C>G	c.(220-222)atC>atG	p.I74M	SYTL5_ENST00000456733.2_Missense_Mutation_p.I74M|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.I74M			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	74	RabBD.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGGGCCTAATCTTTGACCGGG	0.507000													7	22					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82937590	82937590	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:82937590G>C	ENST00000274341.4	-	5	1640	c.790C>G	c.(790-792)Ctg>Gtg	p.L264V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	264	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GGGTGGATCAGATAGTAAAAA	0.463000													9	87					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115374002	115374002	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:115374002C>T	ENST00000369358.4	-	29	3508	c.3264G>A	c.(3262-3264)cgG>cgA	p.R1088R	NRAP_ENST00000369360.3_Silent_p.R1053R|NRAP_ENST00000359988.3_Silent_p.R1080R|NRAP_ENST00000360478.3_Silent_p.R1045R			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1080						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTTCCAAGCTCCGGGAACCAA	0.512000													18	80					0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27480787	27480787	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:27480787G>A	ENST00000233535.4	-	4	916	c.564C>T	c.(562-564)gtC>gtT	p.V188V	SLC30A3_ENST00000447008.2_Silent_p.V183V	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	188					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTGGCACAGACTGCGATGC	0.642000													3	23					0	0	1	0	0
APOA1BP	128240	broad.mit.edu	37	1	156563790	156563790	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:156563790C>T	ENST00000368235.3	+	6	824	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	APOA1BP_ENST00000368234.3_Missense_Mutation_p.S242L	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	261	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGGGGGGTCGTTTTGTGCC	0.562000													17	105					0	0	1	0	0
ZNF25	219749	broad.mit.edu	37	10	38241886	38241886	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:38241886C>G	ENST00000302609.7	-	6	752	c.540G>C	c.(538-540)aaG>aaC	p.K180N	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				AAAATATTTTCTTACATTCTT	0.353000													15	94					0	0	1	0	0
NSUN4	387338	broad.mit.edu	37	1	46827286	46827286	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:46827286C>G	ENST00000474844.1	+	6	1573	c.923C>G	c.(922-924)tCt>tGt	p.S308C	NSUN4_ENST00000536062.1_Missense_Mutation_p.S259C|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Missense_Mutation_p.S259C	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	308							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GTTGTCTATTCTACCTGCTCA	0.502000													11	59					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108196125	108196125	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:108196125G>T	ENST00000278616.4	+	46	7046	c.6661G>T	c.(6661-6663)Gag>Tag	p.E2221*	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Nonsense_Mutation_p.E2221*	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2221	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TAGTTTTCAGGAGCCTATCAT	0.413000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			37	75					1.90571e-15	2.14031e-15	1	1	0
GDE1	51573	broad.mit.edu	37	16	19522217	19522217	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:19522217C>T	ENST00000353258.3	-	3	667	c.487G>A	c.(487-489)Gag>Aag	p.E163K		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	163	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						TTTAGGCACTCTGCAACAGCT	0.378000													15	90					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	713359	713359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:713359C>T	ENST00000382303.1	+	7	3245	c.2593C>T	c.(2593-2595)Cag>Tag	p.Q865*	KANK1_ENST00000382293.3_Nonsense_Mutation_p.Q707*|KANK1_ENST00000382297.2_Nonsense_Mutation_p.Q865*|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	865					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CCTCAACTCTCAGCTCATCAG	0.512000													16	78					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25495413	25495413	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:25495413C>T	ENST00000329474.6	+	16	1663	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	432					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATCAACCTTTCAGGCACAAAA	0.373000													4	28					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235403735	235403735	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:235403735C>T	ENST00000264183.3	-	8	975	c.478G>A	c.(478-480)Gat>Aat	p.D160N	ARID4B_ENST00000366603.2_Missense_Mutation_p.D160N|ARID4B_ENST00000349213.3_Missense_Mutation_p.D160N	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCATCTTCATCACTGGAGGAT	0.358000													5	28					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15704577	15704577	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:15704577C>G	ENST00000281171.4	+	15	2860	c.2530C>G	c.(2530-2532)Ctt>Gtt	p.L844V	PTPRO_ENST00000445537.2_Missense_Mutation_p.L33V|PTPRO_ENST00000542557.1_Missense_Mutation_p.L33V|PTPRO_ENST00000348962.2_Missense_Mutation_p.L844V|PTPRO_ENST00000442921.2_Missense_Mutation_p.L33V|PTPRO_ENST00000544244.1_Missense_Mutation_p.L33V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	844						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCTCATTATTCTTAGGAAAAA	0.348000													12	75					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49698963	49698963	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:49698963C>G	ENST00000296452.4	+	6	9799	c.9685C>G	c.(9685-9687)Cga>Gga	p.R3229G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3229					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAACGTTCCTCGAAACTACGT	0.592000													6	71					0	0	1	0	0
ACTR1B	10120	broad.mit.edu	37	2	98275437	98275437	+	Silent	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:98275437G>C	ENST00000289228.5	-	5	561	c.345C>G	c.(343-345)ctC>ctG	p.L115L		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	115						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						TACTCGGGTTGAGCGGGGCCT	0.587000													16	128					0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41870435	41870435	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:41870435G>A	ENST00000196371.5	-	1	186	c.26C>T	c.(25-27)tCc>tTc	p.S9F	OXCT1-AS1_ENST00000508458.1_RNA	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	9					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CCGAAGCCCGGAGGAGAGGAG	0.652000													7	22					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	713352	713352	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:713352C>T	ENST00000382303.1	+	7	3238	c.2586C>T	c.(2584-2586)ctC>ctT	p.L862L	KANK1_ENST00000382293.3_Silent_p.L704L|KANK1_ENST00000382297.2_Silent_p.L862L|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	862					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGGGCTCCCTCAACTCTCAGC	0.522000													15	85					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917997	26917997	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr14:26917997C>G	ENST00000539517.2	-	5	1009	c.692G>C	c.(691-693)cGa>cCa	p.R231P	NOVA1_ENST00000465357.2_Missense_Mutation_p.R207P|NOVA1_ENST00000267422.7_Missense_Mutation_p.R109P	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	234	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AACAGCTTTTCGGTTTTGTTC	0.473000													16	77					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44050239	44050239	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:44050239C>T	ENST00000262887.5	-	13	1993	c.1446G>A	c.(1444-1446)gcG>gcA	p.A482A	XRCC1_ENST00000543982.1_Silent_p.A451A			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	482					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CAGAATCTTCCGCCCCATTGT	0.602000								Other BER factors					55	29					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326544	152326544	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:152326544G>A	ENST00000388718.5	-	3	3790	c.3718C>T	c.(3718-3720)Cat>Tat	p.H1240Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1240	Ser-rich.						calcium ion binding|structural molecule activity			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)			GTCTGACCATGAGTAGTTTCC	0.478000													207	121					0	0	1	0	0
AUP1	550	broad.mit.edu	37	2	74756539	74756539	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:74756539C>T	ENST00000377526.3	-	2	447	c.138G>A	c.(136-138)ggG>ggA	p.G46G	HTRA2_ENST00000258080.3_5'UTR	NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	64						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						AGACGTGGATCCCGAGAAAGA	0.672000													3	5					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28706544	28706544	+	Silent	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:28706544C>G	ENST00000225719.4	+	1	622	c.546C>G	c.(544-546)ctC>ctG	p.L182L		NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	182	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TGCCCAGCCTCAACCCCGATG	0.741000													3	23					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64023030	64023030	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:64023030C>T	ENST00000540288.1	+	7	642	c.539C>T	c.(538-540)tCa>tTa	p.S180L	PLCB3_ENST00000325234.5_Missense_Mutation_p.S113L|PLCB3_ENST00000279230.6_Missense_Mutation_p.S180L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	180					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AAGATGTTCTCAGCAGACAAG	0.622000													15	62					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123515	140123515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:140123515G>T	ENST00000458420.3	+	4	734	c.544G>T	c.(544-546)Gag>Tag	p.E182*		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	182	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCTGCAGGTGGAGGCCATTGA	0.517000										HNSCC(16;0.037)			15	60					1.15088e-07	1.2615e-07	1	1	0
LY6G6D	58530	broad.mit.edu	37	6	31683352	31683352	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:31683352C>T	ENST00000503322.1	+	5	879	c.876C>T	c.(874-876)ggC>ggT	p.G292G	LY6G6D_ENST00000375825.3_Silent_p.G43G|LY6G6F_ENST00000556581.1_Silent_p.G292G																							CCACCTGTGGCGAGGGCAGAC	0.602000													16	30					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780523	88780523	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:88780523G>C	ENST00000418177.2	-	2	885	c.518C>G	c.(517-519)tCa>tGa	p.S173*	GRM5_ENST00000305447.4_Nonsense_Mutation_p.S173*|GRM5_ENST00000305432.5_Nonsense_Mutation_p.S173*|GRM5_ENST00000393294.3_Nonsense_Mutation_p.S173*|GRM5_ENST00000455756.2_Nonsense_Mutation_p.S173*|GRM5_ENST00000393297.1_Nonsense_Mutation_p.S173*			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	173					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCTGGTTGCTGAGTAAGCAAT	0.488000													14	46					0	0	1	0	0
MROH7-TTC4	100527960	broad.mit.edu	37	1	55161106	55161106	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:55161106G>A	ENST00000414150.2	+	17	3185	c.2907G>A	c.(2905-2907)ccG>ccA	p.P969P	MROH7_ENST00000454855.2_Silent_p.P487P|MROH7_ENST00000409996.1_Silent_p.P537P|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Silent_p.P969P|MROH7_ENST00000395690.2_Silent_p.P969P|MROH7_ENST00000421030.2_Silent_p.P969P																							TGCTCATCCCGCTCCTGGAGC	0.667000													4	17					0	0	1	0	0
TMEM87B	84910	broad.mit.edu	37	2	112863603	112863603	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:112863603C>G	ENST00000283206.4	+	16	1844	c.1475C>G	c.(1474-1476)tCa>tGa	p.S492*		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	492						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TTAAGAGCCTCAAAATCAGTT	0.303000													23	172					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62491786	62491786	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:62491786G>A	ENST00000301785.5	-	2	843	c.651C>T	c.(649-651)ttC>ttT	p.F217F	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.F217F	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	217	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCTCCTCTCGGAATTCATAGT	0.512000													24	62					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9187502	9187502	+	Missense_Mutation	SNP	C	C	T	rs61877790		TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:9187502C>T	ENST00000328194.3	-	11	2484	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K	DENND5A_ENST00000530044.1_Missense_Mutation_p.E722K|DENND5A_ENST00000527700.1_Missense_Mutation_p.E65K	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	722										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTCCTGGCTTCCTGGATGTAC	0.483000													10	36					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1953628	1953628	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:1953628G>T	ENST00000382722.5	-	25	2772	c.2410C>A	c.(2410-2412)Cag>Aag	p.Q804K	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.Q740K|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.Q740K|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.Q804K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.Q779K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.Q665K	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	804						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCTGAGGCCTGGCGGTACCAC	0.637000													7	12					0.00198382	0.00205306	1	1	0
TMC4	147798	broad.mit.edu	37	19	54666813	54666813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:54666813C>A	ENST00000376591.4	-	9	1506	c.1375G>T	c.(1375-1377)Gag>Tag	p.E459*	TMC4_ENST00000416963.1_Nonsense_Mutation_p.E41*|TMC4_ENST00000301187.4_Nonsense_Mutation_p.E453*	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	459						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCTCAGCCTCGGAGTCGCCC	0.567000													8	38					0.000442599	0.000464533	1	1	0
OR2T6	254879	broad.mit.edu	37	1	248551675	248551675	+	Silent	SNP	T	T	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:248551675T>C	ENST00000355728.2	+	1	766	c.766T>C	c.(766-768)Ttg>Ctg	p.L256L		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	256					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)			TGGGGCTGCCTTGTATACGTA	0.473000													7	47					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65216179	65216179	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr14:65216179A>T	ENST00000389722.3	-	35	6885	c.6832T>A	c.(6832-6834)Tcc>Acc	p.S2278T	SPTB_ENST00000556626.1_Missense_Mutation_p.S2278T|SPTB_ENST00000342835.4_5'UTR	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCAGCCAGGACAGCATCTCC	0.701000													6	10					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88242642	88242642	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:88242642C>G	ENST00000418177.2	-	10	3124	c.2757G>C	c.(2755-2757)caG>caC	p.Q919H	GRM5_ENST00000305447.4_Missense_Mutation_p.Q919H|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000305432.5_Missense_Mutation_p.Q887H|GRM5_ENST00000455756.2_Missense_Mutation_p.Q887H|GRM5_ENST00000393297.1_Intron			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	919					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTTCTCATTCTGGGCCCACG	0.582000													15	18					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37904467	37904467	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:37904467G>T	ENST00000316950.6	-	6	1650	c.1093C>A	c.(1093-1095)Cag>Aag	p.Q365K	ZNF569_ENST00000392150.2_Missense_Mutation_p.Q206K|ZNF569_ENST00000392149.2_Missense_Mutation_p.Q365K	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGGAAAACTGAGAGAAGGCT	0.383000													12	205					0.000978159	0.00101763	1	1	0
CTSS	1520	broad.mit.edu	37	1	150722492	150722492	+	Silent	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:150722492G>T	ENST00000368985.3	-	6	1043	c.783C>A	c.(781-783)ctC>ctA	p.L261L	CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Silent_p.L211L	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	261					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CACTTCTGTAGAGGAAGAAAG	0.398000													6	91					0.0215528	0.0219601	1	1	0
ANPEP	290	broad.mit.edu	37	15	90334242	90334242	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr15:90334242T>C	ENST00000300060.6	-	19	2924	c.2611A>G	c.(2611-2613)Att>Gtt	p.I871V		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	871	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CCTTGCCCAATGACGTTGTTG	0.542000													8	56					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59508201	59508201	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:59508201C>T	ENST00000038176.3	-	22	2022	c.1810G>A	c.(1810-1812)Gac>Aac	p.D604N	NSMAF_ENST00000427130.2_Missense_Mutation_p.D635N	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	604					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TCGGTCAGGTCTTCAAAAGAC	0.368000													9	39					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15668439	15668439	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:15668439C>G	ENST00000281171.4	+	8	1802	c.1472C>G	c.(1471-1473)tCa>tGa	p.S491*	PTPRO_ENST00000543886.1_Nonsense_Mutation_p.S491*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.S491*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	491	Fibronectin type-III 5.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAGGTGAACTCAAGCAAACCT	0.398000													18	52					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8170779	8170779	+	Missense_Mutation	SNP	G	G	C	rs145738287		TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:8170779G>C	ENST00000314666.6	+	25	3398	c.3265G>C	c.(3265-3267)Gag>Cag	p.E1089Q	PFAS_ENST00000545834.1_Missense_Mutation_p.E665Q	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1089	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGCTGGGTTTGAGGTGAGCAG	0.642000													19	62					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54225061	54225061	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chrX:54225061G>A	ENST00000354646.2	-	24	5537	c.5099C>T	c.(5098-5100)aCa>aTa	p.T1700I	WNK3_ENST00000375169.3_Missense_Mutation_p.T1643I|WNK3_ENST00000375159.2_Missense_Mutation_p.T1700I	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1643					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CCATGTTGATGTGTAGCCCAT	0.388000													5	15					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182913023	182913023	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:182913023C>G	ENST00000328913.3	-	26	3202	c.2905G>C	c.(2905-2907)Gaa>Caa	p.E969Q	MCF2L2_ENST00000473233.1_Missense_Mutation_p.E969Q|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	969					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GTGCTCATTTCAAACTGTGGA	0.289000													12	87					0	0	1	0	0
IL10RB	3588	broad.mit.edu	37	21	34655426	34655426	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr21:34655426G>C	ENST00000290200.2	+	5	634	c.526G>C	c.(526-528)Gag>Cag	p.E176Q	AP000295.9_ENST00000433395.2_Missense_Mutation_p.L303F	NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GTATGACTTTGAGGTCCTCAG	0.423000													3	40					0	0	1	0	0
TFCP2	7024	broad.mit.edu	37	12	51492568	51492568	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:51492568G>A	ENST00000307660.4	-	12	1977	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	TFCP2_ENST00000257915.5_Silent_p.I470I|TFCP2_ENST00000549867.1_Silent_p.I392I|TFCP2_ENST00000548115.1_Silent_p.I419I	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	470					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						CCTCATCACTGATGAGCACAT	0.438000													18	29					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89034630	89034630	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:89034630G>A	ENST00000237612.3	-	9	1564	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	ABCG2_ENST00000515655.1_Missense_Mutation_p.S340F	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	340					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TTTGTAGAAGGAGGAGTTGAC	0.428000													20	75					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36262034	36262034	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:36262034C>G	ENST00000394571.2	+	4	572	c.572C>G	c.(571-573)tCc>tGc	p.S191C	PNPLA1_ENST00000388715.3_Missense_Mutation_p.S96C|PNPLA1_ENST00000312917.5_Missense_Mutation_p.S105C	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	191					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ATCACCATCTCCACCTTCAGT	0.607000													5	34					0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11983340	11983340	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:11983340G>A	ENST00000376572.3	-	2	1425	c.1240C>T	c.(1240-1242)Ccg>Tcg	p.P414S	KIAA2013_ENST00000376576.3_Missense_Mutation_p.P414S	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	414						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCGCCCCGGCCACAGGTTC	0.642000													3	25					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15995297	15995297	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:15995297C>T	ENST00000268712.3	-	22	3153	c.2896G>A	c.(2896-2898)Gca>Aca	p.A966T	NCOR1_ENST00000395851.1_Missense_Mutation_p.A982T|NCOR1_ENST00000395848.1_Missense_Mutation_p.A873T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	966					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCATGCATTGCTTTAATGTGT	0.458000													15	25					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738862	135738862	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:135738862C>G	ENST00000375845.3	-	9	3479	c.3449G>C	c.(3448-3450)aGt>aCt	p.S1150T	MAP3K19_ENST00000392918.3_Missense_Mutation_p.S284T|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Missense_Mutation_p.S11T|MAP3K19_ENST00000375844.3_Missense_Mutation_p.S332T|MAP3K19_ENST00000392917.3_Missense_Mutation_p.S282T|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S1037T	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GTTTATAATACTAGAGATTGA	0.418000													18	74					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151875018	151875018	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:151875018C>T	ENST00000355193.2	-	38	7738	c.7520G>A	c.(7519-7521)gGa>gAa	p.G2507E	KMT2C_ENST00000262189.6_Missense_Mutation_p.G2507E					lysine (K)-specific methyltransferase 2C																		AACTCCAGATCCCTGTATTTG	0.398000													30	52					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128557	83128557	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chrX:83128557A>G	ENST00000329312.4	+	4	878	c.841A>G	c.(841-843)Aca>Gca	p.T281A		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	281					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTTGAAGTATACAAAGTATAC	0.323000													18	10					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136402996	136402996	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:136402996C>A	ENST00000264160.4	+	16	1892	c.1522C>A	c.(1522-1524)Cct>Act	p.P508T	R3HDM1_ENST00000329971.3_Missense_Mutation_p.P379T|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P452T|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P379T|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P508T	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	508							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GTATAATCCTCCTATGACTCA	0.443000													8	65					1.12685e-05	1.20836e-05	1	1	0
ARID4B	51742	broad.mit.edu	37	1	235403726	235403726	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:235403726C>T	ENST00000264183.3	-	8	984	c.487G>A	c.(487-489)Gag>Aag	p.E163K	ARID4B_ENST00000366603.2_Missense_Mutation_p.E163K|ARID4B_ENST00000349213.3_Missense_Mutation_p.E163K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTATCATCCTCATCTTCATCA	0.368000													5	29					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105472182	105472182	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:105472182A>G	ENST00000361360.2	+	1	214	c.214A>G	c.(214-216)Atg>Gtg	p.M72V	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	72	Gly-rich.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCTGTCAAGATGGTCCAGAG	0.761000													3	9					0	0	1	0	0
B3GNT8	374907	broad.mit.edu	37	19	41932027	41932027	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:41932027G>C	ENST00000321702.2	-	3	1110	c.657C>G	c.(655-657)ttC>ttG	p.F219L	CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_5'UTR	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	219					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						GCGTCTGGTTGAATGGGACGT	0.622000													9	78					0	0	1	0	0
CXCL2	2920	broad.mit.edu	37	4	74964627	74964627	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:74964627G>A	ENST00000508487.2	-	2	285	c.113C>T	c.(112-114)gCc>gTc	p.A38V	CXCL2_ENST00000296031.4_5'UTR	NM_002089.3	NP_002080.1	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	38					chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity			lung(1)	1	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			CAGTTCAGTGGCCAGGGGCGC	0.677000													28	52					0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96106202	96106202	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:96106202G>C	ENST00000371361.3	-	11	1469	c.1369C>G	c.(1369-1371)Cta>Gta	p.L457V	NOC3L_ENST00000543788.1_Missense_Mutation_p.L195V|NOC3L_ENST00000371350.1_Missense_Mutation_p.L457V	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	457						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATTCTTGATAGAGATTTTCTC	0.264000													5	36					0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54967537	54967537	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:54967537C>G	ENST00000394636.4	+	3	1541	c.1204C>G	c.(1204-1206)Ctc>Gtc	p.L402V	IRX5_ENST00000560154.1_Missense_Mutation_p.L182V|IRX5_ENST00000558597.1_Missense_Mutation_p.L336V|IRX5_ENST00000320990.5_Missense_Mutation_p.L401V			P78411	IRX5_HUMAN	iroquois homeobox 5	402					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GTCCCGGCCTCTCTACTACAC	0.711000													5	24					0	0	1	0	0
ZDHHC20	253832	broad.mit.edu	37	13	22033241	22033241	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr13:22033241A>G	ENST00000400590.3	-	1	268	c.70T>C	c.(70-72)Ttc>Ctc	p.F24L	ZDHHC20_ENST00000382466.3_Missense_Mutation_p.F24L|ZDHHC20_ENST00000320220.9_Missense_Mutation_p.F24L|ZDHHC20_ENST00000422251.1_Missense_Mutation_p.F24L|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.F24L|ZDHHC20_ENST00000542645.1_5'UTR			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	24						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		ACGACCACGAAGGTGATGAAG	0.726000													3	19					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197986230	197986230	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:197986230G>A	ENST00000328737.2	-	8	733	c.657C>T	c.(655-657)caC>caT	p.H219H	ANKRD44_ENST00000409153.1_Silent_p.H244H|ANKRD44_ENST00000539527.1_Silent_p.H172H|ANKRD44_ENST00000409919.1_Silent_p.H244H|ANKRD44_ENST00000282272.8_Silent_p.H236H|ANKRD44_ENST00000450567.1_Silent_p.H219H|ANKRD44_ENST00000337207.5_Silent_p.H219H			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	244							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGCAGGCGATGTGAAGCGCTG	0.433000													9	22					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48941648	48941648	+	Nonsense_Mutation	SNP	C	C	T	rs121913300		TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr13:48941648C>T	ENST00000267163.4	+	10	1096	c.958C>T	c.(958-960)Cga>Tga	p.R320*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	320					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.R320*(11)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTTCTAAACGATACGAAGA	0.313000	R320*(GMS10_CENTRAL_NERVOUS_SYSTEM)|R320*(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			20	37					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688205	60688205	+	Silent	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:60688205C>G	ENST00000335712.6	-	4	2069	c.1842G>C	c.(1840-1842)tcG>tcC	p.S614S	BCL11A_ENST00000538214.1_Silent_p.S580S|BCL11A_ENST00000537768.1_Silent_p.S283S|BCL11A_ENST00000358510.4_Silent_p.S580S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Silent_p.S614S|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	614					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACAGGCCCCCCGAGGCCGACT	0.667000			T	IGH@	B-CLL								11	24					0	0	1	0	0
ECH1	1891	broad.mit.edu	37	19	39321966	39321966	+	Nonstop_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:39321966C>A	ENST00000594769.1	-	6	751	c.752G>T	c.(751-753)tGa>tTa	p.*251L	ECH1_ENST00000597805.1_Intron|ECH1_ENST00000221418.4_Missense_Mutation_p.M81I																							AGACCTTGTTCATGGCATTCC	0.592000													9	169					0.00448238	0.00461467	1	1	0
GPRIN3	285513	broad.mit.edu	37	4	90170805	90170805	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:90170805C>G	ENST00000609438.1	-	2	975	c.457G>C	c.(457-459)Gat>Cat	p.D153H	GPRIN3_ENST00000333209.4_Missense_Mutation_p.D153H	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ATCAGGGAATCTTCAGGCATG	0.512000													24	76					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45284558	45284558	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:45284558G>A	ENST00000270279.3	+	3	658	c.595G>A	c.(595-597)Gac>Aac	p.D199N	CBLC_ENST00000341505.4_Missense_Mutation_p.D199N	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	199	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CACCACCATTGACCTCACCTG	0.627000			M		AML								10	147					0	0	1	0	0
STK3	6788	broad.mit.edu	37	8	99761538	99761538	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:99761538G>C	ENST00000523601.1	-	6	800	c.401C>G	c.(400-402)tCt>tGt	p.S134C	STK3_ENST00000419617.2_Missense_Mutation_p.S106C	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	106	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GTCTGAGACAGAGCCAGCGCC	0.318000													11	59					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890584	55890584	+	Silent	SNP	T	T	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:55890584T>C	ENST00000313472.3	+	1	736	c.736T>C	c.(736-738)Ttg>Ctg	p.L246L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTCTCATCTCTTGGGAGTCAC	0.393000													27	90					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53848762	53848762	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:53848762C>T	ENST00000458035.1	+	3	136	c.19C>T	c.(19-21)Cta>Tta	p.L7L	ZNF845_ENST00000595091.1_Silent_p.L7L	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTCAGGGTCTATTGACATT	0.433000													17	116					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100995740	100995740	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:100995740G>C	ENST00000375066.5	-	4	830	c.739C>G	c.(739-741)Cag>Gag	p.Q247E	TBC1D2_ENST00000375064.1_Missense_Mutation_p.Q247E|TBC1D2_ENST00000342112.5_Missense_Mutation_p.Q29E	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	247						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)		TCCTCCCTCTGAGGCTCCCCA	0.617000													5	44					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101716853	101716853	+	Silent	SNP	G	G	C	rs113700467		TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:101716853G>C	ENST00000342239.3	-	4	469	c.378C>G	c.(376-378)ctC>ctG	p.L126L	DNMBP_ENST00000324109.4_Silent_p.L126L|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	126	SH3 2.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTGTGAGGAGAGGCAGAGCT	0.617000													4	28					0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221913020	221913020	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:221913020G>C	ENST00000366899.3	-	2	305	c.67C>G	c.(67-69)Ctc>Gtc	p.L23V	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	23					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CAAAGGTTGAGATCCTGAGGT	0.537000													6	55					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21636387	21636387	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:21636387T>A	ENST00000444129.2	-	6	1091	c.623A>T	c.(622-624)tAt>tTt	p.Y208F	RECQL_ENST00000421138.2_Missense_Mutation_p.Y208F	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	208	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CCTTGCTTCATAGGCTTTCTC	0.368000								Other identified genes with known or suspected DNA repair function					11	46					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32162639	32162639	+	Silent	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:32162639G>T	ENST00000373672.3	-	8	1305	c.789C>A	c.(787-789)ctC>ctA	p.L263L	COL16A1_ENST00000271069.6_Silent_p.L263L|COL16A1_ENST00000373668.3_Silent_p.L263L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	263	Nonhelical region 10 (NC10).				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)		TGATCTCAATGAGCTCATTGC	0.607000													17	43					5.35267e-07	5.82409e-07	1	1	0
GRIPAP1	56850	broad.mit.edu	37	X	48834740	48834740	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chrX:48834740C>T	ENST00000376423.4	-	20	1833	c.1801G>A	c.(1801-1803)Gag>Aag	p.E601K	GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E680K|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E649K|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E635K			Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	680						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GCCGAGCTCTCCTTTTCCCGC	0.552000													6	5					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518914	113518914	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:113518914A>G	ENST00000284601.3	-	4	2301	c.2233T>C	c.(2233-2235)Tct>Cct	p.S745P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	745					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTCTAGCAGACATGCTTTCT	0.428000													15	65					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38812863	38812863	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:38812863A>C	ENST00000449082.2	-	4	505	c.506T>G	c.(505-507)tTg>tGg	p.L169W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	169					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TATCTTTATCAAGGCTTCAAA	0.453000													8	56					0	0	1	0	0
YIPF2	78992	broad.mit.edu	37	19	11036371	11036371	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:11036371C>A	ENST00000586748.1	-	5	530	c.358G>T	c.(358-360)Gat>Tat	p.D120Y	YIPF2_ENST00000253031.2_Missense_Mutation_p.D120Y|YIPF2_ENST00000590329.1_Missense_Mutation_p.D120Y			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	120						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCATACAGATCCGGCCGATTC	0.562000													4	25					0.00909568	0.00931561	1	1	0
CHCHD2	51142	broad.mit.edu	37	7	56174090	56174090	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:56174090C>A	ENST00000395422.3	-	1	179	c.17G>T	c.(16-18)cGa>cTa	p.R6L		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	6						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGTGCGGCTTCGGCTTCCACG	0.642000													4	30					0.150653	0.151419	1	1	0
OBSL1	23363	broad.mit.edu	37	2	220434993	220434993	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:220434993G>A	ENST00000404537.1	-	1	1018	c.962C>T	c.(961-963)gCg>gTg	p.A321V	OBSL1_ENST00000373873.4_Missense_Mutation_p.A321V|OBSL1_ENST00000603926.1_Missense_Mutation_p.A321V|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.A321V|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000265318.4_Missense_Mutation_p.A321V	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	321	Ig-like 3.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGAGTTGCGCGCGGCGCAGAC	0.701000													4	15					0	0	1	0	0
PPTC7	160760	broad.mit.edu	37	12	110974889	110974889	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:110974889C>G	ENST00000354300.3	-	6	1156	c.868G>C	c.(868-870)Gat>Cat	p.D290H		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	290	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						GTGATGTCATCTGGCTTTCCA	0.378000													22	85					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78492255	78492255	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr13:78492255C>T	ENST00000377211.4	-	2	876	c.724G>A	c.(724-726)Gtc>Atc	p.V242I	EDNRB_ENST00000334286.5_Missense_Mutation_p.V152I|EDNRB_ENST00000446573.1_Missense_Mutation_p.V152I	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	152					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATGTCAATGACGATGTGCAGC	0.507000													22	46					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145741411	145741411	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:145741411C>T	ENST00000428558.2	-	5	1133	c.1092G>A	c.(1090-1092)gtG>gtA	p.V364V	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	364					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCCGGCCCCGCACGTAGTGTT	0.632000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				4	32					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35551650	35551650	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:35551650G>C	ENST00000262626.2	+	9	1565	c.740G>C	c.(739-741)cGg>cCg	p.R247P	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.R247P|HPN_ENST00000597419.1_Missense_Mutation_p.R89P	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	247	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)	CTTCCCTTTCGGGACCCCAAC	0.637000													6	93					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854796	53854796	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:53854796C>G	ENST00000458035.1	+	4	985	c.868C>G	c.(868-870)Cat>Gat	p.H290D	ZNF845_ENST00000595091.1_Missense_Mutation_p.H290D	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TACATGCCATCATAGACTTCA	0.418000													5	53					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130493096	130493096	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:130493096G>C	ENST00000373289.3	+	14	2114	c.2034G>C	c.(2032-2034)caG>caC	p.Q678H	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	678							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CCCAGGGCCAGAGGCAGAGCC	0.562000													9	29					0	0	1	0	0
TBC1D10B	26000	broad.mit.edu	37	16	30376855	30376855	+	Silent	SNP	G	G	A	rs144362354		TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:30376855G>A	ENST00000409939.3	-	2	1097	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	339						cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CCCAGTTACTGAACATGTCCA	0.582000													17	66					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77807779	77807779	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:77807779G>T	ENST00000269397.4	-	5	1839	c.1662C>A	c.(1660-1662)ttC>ttA	p.F554L		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	554	Interaction with RNF2.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGTACTCCTTGAAAGTAACGG	0.637000													18	54					9.16793e-09	1.01052e-08	1	1	0
TRIO	7204	broad.mit.edu	37	5	14336674	14336674	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:14336674G>A	ENST00000344204.4	+	11	1908	c.1884G>A	c.(1882-1884)ctG>ctA	p.L628L	TRIO_ENST00000537187.1_Silent_p.L628L|TRIO_ENST00000509967.2_Silent_p.L579L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	628					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATAAATTACTGGAAGCAGCAG	0.502000													40	41					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53777305	53777305	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:53777305C>G	ENST00000426431.2	+	3	1613	c.1553C>G	c.(1552-1554)tCc>tGc	p.S518C	SP1_ENST00000327443.4_Missense_Mutation_p.S525C	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	525	Transactivation domain C (highly charged).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CAACTCTCCTCCATGCCAGGC	0.552000													11	57					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85051230	85051230	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:85051230G>C	ENST00000335459.5	-	5	1239	c.1034C>G	c.(1033-1035)tCa>tGa	p.S345*	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Nonsense_Mutation_p.S394*	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		TGAGTGCCCTGAGGATACGGC	0.602000													7	16					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71146707	71146707	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:71146707G>C	ENST00000355527.3	-	9	1418	c.1142C>G	c.(1141-1143)tCc>tGc	p.S381C	DHCR7_ENST00000407721.2_Missense_Mutation_p.S381C	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	381					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GGATGTGTAGGAGCACTCGAT	0.642000									Smith-Lemli-Opitz syndrome				3	24					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81077528	81077528	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:81077528G>C	ENST00000566488.1	+	3	1920	c.957G>C	c.(955-957)caG>caC	p.Q319H	ATMIN_ENST00000564241.1_Missense_Mutation_p.Q319H|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Missense_Mutation_p.Q475H			O43313	ATMIN_HUMAN	ATM interactor	475	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TAGCTGCTCAGACTGATGCAT	0.443000													10	84					0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62159067	62159067	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:62159067G>A	ENST00000415229.2	+	6	899	c.684G>A	c.(682-684)gtG>gtA	p.V228V	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Silent_p.V228V	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	228					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TCCTGAAGGTGAACCTGGCTA	0.463000											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99103871	99103871	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:99103871C>T	ENST00000394170.2	+	2	455	c.204C>T	c.(202-204)ctC>ctT	p.L68L	ZKSCAN5_ENST00000326775.5_Silent_p.L68L|ZKSCAN5_ENST00000451158.1_Silent_p.L68L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	68	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGGAGGCTCTCAGCCAACTCC	0.602000													13	71					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13428011	13428011	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:13428011C>G	ENST00000360228.5	-	11	1469	c.1470G>C	c.(1468-1470)tgG>tgC	p.W490C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.W491C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	491					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGAGTACAGTCCAGTAGAAGG	0.488000													3	10					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111763	64111763	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:64111763G>C	ENST00000356786.5	+	14	1794	c.1750G>C	c.(1750-1752)Gag>Cag	p.E584Q	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	584					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCTCCTGTGGAGACACAGGA	0.637000													6	36					0	0	1	0	0
KIAA1715	80856	broad.mit.edu	37	2	176857064	176857064	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:176857064G>C	ENST00000272748.4	-	4	399	c.152C>G	c.(151-153)tCa>tGa	p.S51*	KIAA1715_ENST00000535310.1_5'UTR|KIAA1715_ENST00000544803.1_Nonsense_Mutation_p.S51*	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	51						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ATAGAGAACTGAGGAATACAG	0.318000													7	27					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73467995	73467995	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr13:73467995G>C	ENST00000326291.6	+	11	1734	c.1396G>C	c.(1396-1398)Gaa>Caa	p.E466Q		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	466						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAAATCTTTTGAAAGTGAGCG	0.348000													6	31					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64460569	64460569	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr14:64460569C>G	ENST00000358025.3	+	22	2893	c.2663C>G	c.(2662-2664)tCt>tGt	p.S888C	SYNE2_ENST00000344113.4_Missense_Mutation_p.S888C|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S888C	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	888					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTAATAATTTCTAATACAAAA	0.294000													5	25					0	0	1	0	0
DUOXA2	405753	broad.mit.edu	37	15	45409450	45409450	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr15:45409450C>A	ENST00000323030.5	+	5	1001	c.716C>A	c.(715-717)tCc>tAc	p.S239Y		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	239					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CGCCTAGGCTCCTCCGCGCTC	0.687000													5	12					0.000602214	0.000629829	1	1	0
ACP5	54	broad.mit.edu	37	19	11687206	11687206	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:11687206C>A	ENST00000592828.1	-	6	989	c.587G>T	c.(586-588)aGg>aTg	p.R196M	ACP5_ENST00000412435.2_Missense_Mutation_p.R196M|ACP5_ENST00000433365.2_Missense_Mutation_p.R196M|ACP5_ENST00000218758.5_Missense_Mutation_p.R196M|ACP5_ENST00000590420.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	196					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						GTAGTCCTCCCTGGCCGCCGC	0.652000													8	18					0.0381472	0.0388016	1	1	0
CCDC88B	283234	broad.mit.edu	37	11	64108139	64108139	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:64108139G>C	ENST00000356786.5	+	2	165	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	41	Poly-Glu.				microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						agaagaggaagaggaggaaga	0.667000													10	34					0	0	1	0	0
FIP1L1	81608	broad.mit.edu	37	4	54310234	54310234	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:54310234G>A	ENST00000337488.6	+	15	1443	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Missense_Mutation_p.D411N|FIP1L1_ENST00000306932.6_Missense_Mutation_p.D343N	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	417					mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTCTGGTTATGATAGTCGTTC	0.299000			T	PDGFRA	idiopathic hypereosinophilic syndrome								5	35					0	0	1	0	0
SCO1	6341	broad.mit.edu	37	17	10600752	10600752	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:10600752G>T	ENST00000255390.5	-	1	133	c.73C>A	c.(73-75)Cgc>Agc	p.R25S	SCO1_ENST00000582053.1_Intron|SCO1_ENST00000577427.1_Missense_Mutation_p.R25S	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	25					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	p.R25G(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TCGAGTCCGCGAGGCAAGAAG	0.667000													3	13					0.115264	0.116442	1	1	0
TRAV35	28647	broad.mit.edu	37	14	22690353	22690353	+	RNA	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr14:22690353C>G	ENST00000390462.1	+	0	312																											ATGTAGGCATCTACTTCTGTG	0.478000													8	20					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159457210	159457210	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:159457210C>T	ENST00000367066.3	-	10	2176	c.1845G>A	c.(1843-1845)gtG>gtA	p.V615V	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Silent_p.V437V|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	615					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCATGCTCCCCACGGTCTGGC	0.642000													10	34					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119005091	119005091	+	Silent	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:119005091C>G	ENST00000350777.2	+	10	1500	c.1437C>G	c.(1435-1437)gtC>gtG	p.V479V		NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	479	Interaction with NPAT.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAGAGATCGTCTACTATGTGC	0.582000											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	56					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17056418	17056418	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:17056418G>C	ENST00000443236.1	-	22	2906	c.2875C>G	c.(2875-2877)Cac>Gac	p.H959D		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	912						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTGTCGGCGTGATTCTCCTCA	0.572000													8	60					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83739857	83739857	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:83739857G>C	ENST00000265362.4	-	4	696	c.382C>G	c.(382-384)Cac>Gac	p.H128D	SEMA3A_ENST00000436949.1_Missense_Mutation_p.H128D	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity	p.H128D(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GCGTACAAGTGAGTCTGATTA	0.383000													13	69					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45620237	45620237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:45620237C>A	ENST00000263736.4	-	20	2607	c.2545G>T	c.(2545-2547)Gag>Tag	p.E849*	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Nonsense_Mutation_p.E368*	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	849					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTCCAACCTCATACAGTGTC	0.358000													9	53					0.00448238	0.00461467	1	1	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81442981	81442981	+	RNA	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:81442981G>C	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							AGGCAATGGAGAGCAGGCCGG	0.632000													5	12					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234359572	234359572	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:234359572G>A	ENST00000264057.2	+	17	2055	c.2043G>A	c.(2041-2043)tcG>tcA	p.S681S	DGKD_ENST00000409813.3_Silent_p.S637S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	681					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTACAGTGTCGAAATCTCCGT	0.577000													10	86					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	892340	892340	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:892340C>T	ENST00000327044.6	-	4	469	c.420G>A	c.(418-420)ctG>ctA	p.L140L	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	140						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCTTCCCCTTCAGCCCTCTGG	0.592000													23	75					0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135711250	135711250	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:135711250G>A	ENST00000264157.5	+	9	1255	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	CCNT2_ENST00000537343.1_Missense_Mutation_p.E234K|CCNT2_ENST00000295238.6_Missense_Mutation_p.E409K	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	409					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TGTTAAGCAAGAATATACTCA	0.378000													24	54					0	0	1	0	0
IST1	9798	broad.mit.edu	37	16	71949582	71949582	+	Silent	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:71949582G>C	ENST00000378799.6	+	2	395	c.39G>C	c.(37-39)gtG>gtC	p.V13V	IST1_ENST00000535424.1_Silent_p.V26V|IST1_ENST00000541571.2_Silent_p.V13V|IST1_ENST00000329908.8_Silent_p.V13V|IST1_ENST00000378798.5_Silent_p.V13V|IST1_ENST00000538565.1_Intron|IST1_ENST00000606369.1_Intron|IST1_ENST00000544564.1_Silent_p.V13V|IST1_ENST00000538850.1_Intron			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	13	Interaction with CHMP1A and CHMP1B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding										GCTTAAGAGTGAATTTGAGAT	0.373000													8	48					0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22413001	22413001	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:22413001C>T	ENST00000344548.3	+	5	499	c.248C>T	c.(247-249)tCa>tTa	p.S83L	CDC42_ENST00000315554.8_Missense_Mutation_p.S83L|CDC42_ENST00000421089.2_Missense_Mutation_p.S125L|CDC42_ENST00000400259.1_Missense_Mutation_p.S83L|CDC42_ENST00000498236.1_3'UTR	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	83					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GTCTGTTTTTCAGTGGTCTCT	0.373000													11	57					0	0	1	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045756	26045756	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:26045756C>G	ENST00000540144.1	+	1	118	c.118C>G	c.(118-120)Cat>Gat	p.H40D		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	40					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GAAGAAACCTCATCGCTACCG	0.642000													12	30					0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26905570	26905570	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:26905570G>A	ENST00000397292.3	-	14	2744	c.2327C>T	c.(2326-2328)tCc>tTc	p.S776F		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	776	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TGATACTGAGGAATACTTTTT	0.358000													18	55					0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682849	140682849	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:140682849C>T	ENST00000239451.4	-	1	763	c.584G>A	c.(583-585)cGa>cAa	p.R195Q		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	195					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AAAAAACGATCGGCTCAGTTC	0.463000													33	40					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189898915	189898915	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:189898915C>T	ENST00000374866.3	-	54	4655	c.4381G>A	c.(4381-4383)Gtc>Atc	p.V1461I		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1461	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TATTCAAAGACAGTCTTGCCC	0.428000													3	33					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119944686	119944686	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:119944686C>T	ENST00000307142.4	+	2	403	c.207C>T	c.(205-207)gtC>gtT	p.V69V	SYNPO2_ENST00000429713.2_Silent_p.V69V|SYNPO2_ENST00000448416.2_Silent_p.V69V|SYNPO2_ENST00000434046.2_Silent_p.V69V	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	69	PDZ.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACCCTGAAGTCATCAAGCTCA	0.448000													14	67					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444034	20444034	+	Silent	SNP	T	T	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr14:20444034T>C	ENST00000305051.5	+	1	432	c.357T>C	c.(355-357)gaT>gaC	p.D119D		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCTTTTGATGCCTGCCTGG	0.433000													14	94					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113529371	113529371	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:113529371C>T	ENST00000297405.5	-	28	4892	c.4648G>A	c.(4648-4650)Gtt>Att	p.V1550I	CSMD3_ENST00000352409.3_Missense_Mutation_p.V1550I|CSMD3_ENST00000455883.2_Missense_Mutation_p.V1446I|CSMD3_ENST00000343508.3_Missense_Mutation_p.V1510I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1550	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAAAAACAACAGTGTCCCCA	0.498000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	43					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102291769	102291769	+	RNA	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr15:102291769C>G	ENST00000561463.1	+	0	535																											GAGAATGGCTCCCACAGCTTC	0.577000													5	24					0	0	1	0	0
ZC3H15	55854	broad.mit.edu	37	2	187364925	187364925	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:187364925C>A	ENST00000337859.6	+	3	421	c.194C>A	c.(193-195)gCt>gAt	p.A65D	ZC3H15_ENST00000468120.1_3'UTR|ZC3H15_ENST00000544130.1_5'UTR|AC018867.1_ENST00000396985.1_Intron	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	65						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CAGAGTGAAGCTGAAAAGAAA	0.318000													8	17					5.18039e-06	5.5854e-06	1	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216306	20216306	+	Silent	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr14:20216306C>A	ENST00000331723.1	+	1	720	c.720C>A	c.(718-720)acC>acA	p.T240T		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTCTCTACCTGTGCTTCTC	0.468000													6	141					5.18039e-06	5.5854e-06	1	1	0
EHF	26298	broad.mit.edu	37	11	34673324	34673324	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:34673324C>T	ENST00000257831.3	+	6	637	c.516C>T	c.(514-516)tcC>tcT	p.S172S	EHF_ENST00000531794.1_Silent_p.S194S|EHF_ENST00000533754.1_Silent_p.S172S|EHF_ENST00000530286.1_Silent_p.S172S|EHF_ENST00000450654.2_Intron	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	172					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			CTCAGATCTCCATGACAACCA	0.488000													9	48					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42798179	42798179	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:42798179C>T	ENST00000572681.2	+	18	6919	c.6851C>T	c.(6850-6852)tCt>tTt	p.S2284F	CIC_ENST00000160740.3_Missense_Mutation_p.S1376F|CIC_ENST00000575354.2_Missense_Mutation_p.S1378F			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCTGCAGTCTCTGGCCACC	0.627000			"""Mis, F, S"""		oligodendroglioma								12	130					0	0	1	0	0
TM9SF3	56889	broad.mit.edu	37	10	98336516	98336516	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:98336516T>C	ENST00000371142.4	-	2	389	c.173A>G	c.(172-174)tAt>tGt	p.Y58C		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	58						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AAAGTACTTATATGTTTCTTG	0.358000													12	47					0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129929068	129929068	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:129929068C>T	ENST00000368149.2	-	9	1340	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	418	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TTGAGATACTCCACACTGAGC	0.463000													7	54					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41447440	41447440	+	RNA	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:41447440G>A	ENST00000599198.1	+	0	876					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						gaggtgagaagagggagggaa	0.532000													3	30					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654655	61654655	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:61654655C>G	ENST00000423902.2	+	2	1143	c.664C>G	c.(664-666)Cag>Gag	p.Q222E	CHD7_ENST00000524602.1_Missense_Mutation_p.Q222E|CHD7_ENST00000525508.1_Missense_Mutation_p.Q222E	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	222	Gln-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGGCCTCAATCAGGGAAATCC	0.572000													9	40					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190603290	190603290	+	Splice_Site	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:190603290G>C	ENST00000520309.1	+	19	3670		c.e19-1		ANKAR_ENST00000313581.4_Splice_Site|ANKAR_ENST00000438402.2_Splice_Site|ANKAR_ENST00000281412.6_Splice_Site|ANKAR_ENST00000431575.2_Splice_Site	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing							integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TCTGTTTTCAGATTGTTGTAC	0.308000													9	67					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654783	61654783	+	Silent	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:61654783C>A	ENST00000423902.2	+	2	1271	c.792C>A	c.(790-792)ctC>ctA	p.L264L	CHD7_ENST00000524602.1_Silent_p.L264L|CHD7_ENST00000525508.1_Silent_p.L264L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	264					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTACTGCTCTCCATGGAGAAT	0.587000													17	105					5.35267e-07	5.82409e-07	1	1	0
DNA2	1763	broad.mit.edu	37	10	70204688	70204688	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:70204688G>C	ENST00000399180.2	-	8	1467	c.1468C>G	c.(1468-1470)Ctt>Gtt	p.L490V	DNA2_ENST00000358410.3_Missense_Mutation_p.L404V|DNA2_ENST00000399179.2_Missense_Mutation_p.L404V			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	404					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CTGCTATAAAGAGCACAATTG	0.363000													5	27					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39176606	39176606	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:39176606G>C	ENST00000301819.6	+	22	3086	c.2909G>C	c.(2908-2910)aGa>aCa	p.R970T	TTC21A_ENST00000431162.2_Missense_Mutation_p.R969T|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.R921T	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	969							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGATGTTTAGAAAACAGAAA	0.507000													11	41					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21840157	21840157	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:21840157G>C	ENST00000434536.1	+	11	1240	c.1138G>C	c.(1138-1140)Gaa>Caa	p.E380Q	XPO7_ENST00000433566.4_Missense_Mutation_p.E372Q|XPO7_ENST00000252512.9_Missense_Mutation_p.E371Q			Q9UIA9	XPO7_HUMAN	exportin 7	371				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TTAGCACTGGGAATTTGCTCC	0.453000													5	25					0	0	1	0	0
MRP63	78988	broad.mit.edu	37	13	21751095	21751095	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr13:21751095G>T	ENST00000309594.4	+	2	118	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C		NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN	mitochondrial ribosomal protein 63	14										kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		CCGCATTCCCGGCCGTCAGTG	0.677000													8	29					0.00307968	0.00318162	1	1	0
FAT4	79633	broad.mit.edu	37	4	126373411	126373411	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:126373411C>A	ENST00000394329.3	+	9	11253	c.11240C>A	c.(11239-11241)gCt>gAt	p.A3747D	FAT4_ENST00000335110.5_Missense_Mutation_p.A2045D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3747					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAGGGACTGCTGTGCAACTG	0.453000													12	78					6.42651e-13	7.17688e-13	1	1	0
TRIM29	23650	broad.mit.edu	37	11	120008672	120008672	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:120008672G>A	ENST00000341846.5	-	1	489	c.68C>T	c.(67-69)tCg>tTg	p.S23L		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	23					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ACTGGGGCCCGACGGGCTCCG	0.662000													6	37					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42251697	42251697	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:42251697G>A	ENST00000341421.3	+	13	2202	c.2009G>A	c.(2008-2010)gGc>gAc	p.G670D	TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000396175.1_Intron	NM_001265608.1|NM_014965.4	NP_001252537.1|NP_055780.2	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	531					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TCTGTTCCAGGCACCATCCGT	0.507000													35	194					0	0	1	0	0
C6orf89	221477	broad.mit.edu	37	6	36867355	36867355	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:36867355G>C	ENST00000480824.2	+	3	429	c.135G>C	c.(133-135)aaG>aaC	p.K45N	C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000373685.1_Missense_Mutation_p.K45N|C6orf89_ENST00000355190.3_Missense_Mutation_p.K52N			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	45						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TGCTGGAAAAGAATGAACCTC	0.428000													9	38					0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154961103	154961103	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:154961103G>A	ENST00000368433.1	+	2	1238	c.895G>A	c.(895-897)Gag>Aag	p.E299K	FLAD1_ENST00000315144.10_Missense_Mutation_p.E202K|FLAD1_ENST00000405236.2_Missense_Mutation_p.E200K|FLAD1_ENST00000368432.1_Missense_Mutation_p.E202K|FLAD1_ENST00000292180.3_Missense_Mutation_p.E299K|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000368431.3_Missense_Mutation_p.E200K|FLAD1_ENST00000295530.2_Missense_Mutation_p.E32K			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	299					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CATTCTGGCTGAGGCCCAGGC	0.552000													14	33					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100962624	100962624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:100962624G>A	ENST00000193391.7	-	13	2738	c.2551C>T	c.(2551-2553)Cag>Tag	p.Q851*		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	851					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGCTCAGGCTGATAGTAATCT	0.463000													15	100					0	0	1	0	0
SMPD1	6609	broad.mit.edu	37	11	6413073	6413073	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:6413073G>C	ENST00000342245.4	+	2	946	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	SMPD1_ENST00000527275.1_Missense_Mutation_p.E259Q|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Missense_Mutation_p.E260Q|SMPD1_ENST00000299397.3_Missense_Mutation_p.E260Q	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	258					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GAGGACCCTGGAGAGCCTGTT	0.642000													6	57					0	0	1	0	0
OGG1	4968	broad.mit.edu	37	3	9796493	9796493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:9796493G>A	ENST00000302036.7	+	4	1014	c.671G>A	c.(670-672)tGg>tAg	p.W224*	OGG1_ENST00000302008.8_Nonsense_Mutation_p.W224*|OGG1_ENST00000339511.5_Nonsense_Mutation_p.W224*|OGG1_ENST00000349503.5_Nonsense_Mutation_p.W224*|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Nonsense_Mutation_p.W224*|OGG1_ENST00000302003.7_Nonsense_Mutation_p.W224*|OGG1_ENST00000344629.7_Nonsense_Mutation_p.W224*	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	224					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GGGCTAGCCTGGCTGCAGCAG	0.642000								Base excision repair (BER), DNA glycosylases					21	14					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152772275	152772275	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:152772275G>T	ENST00000367255.5	-	26	3694	c.3093C>A	c.(3091-3093)ttC>ttA	p.F1031L	SYNE1_ENST00000367253.4_Missense_Mutation_p.F1031L|SYNE1_ENST00000341594.5_Missense_Mutation_p.F1097L|SYNE1_ENST00000423061.1_Missense_Mutation_p.F1038L|SYNE1_ENST00000448038.1_Missense_Mutation_p.F1038L|SYNE1_ENST00000413186.2_Missense_Mutation_p.F1031L|SYNE1_ENST00000367248.3_Missense_Mutation_p.F1021L|SYNE1_ENST00000265368.4_Missense_Mutation_p.F1031L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1031					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)		CAGAGGCTAAGAACCTATTCT	0.433000										HNSCC(10;0.0054)			12	67					9.31168e-06	1.00033e-05	1	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140736622	140736622	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:140736622G>A	ENST00000571252.1	+	1	1855	c.1855G>A	c.(1855-1857)Gtg>Atg	p.V619M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTATTTGCAGTGGGGCTGCA	0.622000													32	32					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552896	106552896	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:106552896G>A	ENST00000369096.4	+	5	1095	c.861G>A	c.(859-861)ggG>ggA	p.G287G	PRDM1_ENST00000369091.2_Silent_p.G251G|PRDM1_ENST00000369089.3_Silent_p.G153G	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	287					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GAAGACGTGGGAGCCCCGAAA	0.527000			"""D, N, Mis, F, S"""		DLBCL								1650	73					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46497467	46497467	+	Splice_Site	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:46497467C>T	ENST00000231751.4	-	4	613	c.318G>A	c.(316-318)caG>caA	p.Q106Q	LTF_ENST00000417439.1_Splice_Site_p.Q106Q|LTF_ENST00000426532.2_Splice_Site_p.Q62Q	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	106	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GAGTTCGTGGCTCTGCAAAGG	0.532000													6	9					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521041	39521041	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:39521041C>T	ENST00000251646.3	-	6	1136	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	363	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TTGCAGTCCTCGCTCTCCAGC	0.562000													14	67					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145440714	145440714	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:145440714G>A	ENST00000369317.4	+	6	1248	c.914G>A	c.(913-915)aGa>aAa	p.R305K	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	305					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTAAGCAGCAGAACATCCAGC	0.498000													15	73					0	0	1	0	0
ADI1	55256	broad.mit.edu	37	2	3504729	3504729	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:3504729G>A	ENST00000382093.5	-	3	3095	c.258C>T	c.(256-258)gaC>gaT	p.D86D	ADI1_ENST00000327435.6_Silent_p.D92D			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	92					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		GGATCTCATCGTCCAAGTGCA	0.517000													3	28					0	0	1	0	0
CMSS1	84319	broad.mit.edu	37	3	99890700	99890700	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:99890700G>C	ENST00000421999.2	+	7	682	c.536G>C	c.(535-537)aGa>aCa	p.R179T	CMSS1_ENST00000489081.1_Missense_Mutation_p.R161T	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		ACAGCATTCAGAGGAGACGGC	0.413000													5	46					0	0	1	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252018	26252018	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:26252018A>G	ENST00000356350.2	+	1	140	c.140A>G	c.(139-141)aAg>aGg	p.K47R		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	47					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						AAGGTGCTGAAGCAAGTCCAC	0.567000													31	56					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66280007	66280007	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:66280007G>T	ENST00000273854.3	-	7	2282	c.1682C>A	c.(1681-1683)cCa>cAa	p.P561Q	EPHA5_ENST00000511294.1_Missense_Mutation_p.P561Q|EPHA5_ENST00000354839.4_Missense_Mutation_p.P561Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.P397Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	561					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTACACACTGGGGTGGTTTC	0.453000										TSP Lung(17;0.13)			8	52					0.27861	0.27861	1	1	0
OR3A1	4994	broad.mit.edu	37	17	3195490	3195490	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:3195490G>A	ENST00000323404.1	-	1	386	c.387C>T	c.(385-387)atC>atT	p.I129I	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGGGCCGGCAGATGGCCAGGA	0.597000													12	42					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12956999	12956999	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:12956999C>T	ENST00000276297.4	-	9	3256	c.2847G>A	c.(2845-2847)caG>caA	p.Q949Q	DLC1_ENST00000520226.1_Silent_p.Q438Q|DLC1_ENST00000512044.2_Silent_p.Q546Q|DLC1_ENST00000358919.2_Silent_p.Q512Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	949					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCAGGTGTATCTGTTTTGGAG	0.567000													5	37					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109895712	109895712	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:109895712G>A	ENST00000399132.1	-	7	972	c.442C>T	c.(442-444)Cct>Tct	p.P148S	COL25A1_ENST00000399126.1_Missense_Mutation_p.P148S|COL25A1_ENST00000399127.1_Missense_Mutation_p.P148S	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	148	Collagen-like 1.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGACCAGGAGGGCCCTGAAAA	0.323000													5	58					0	0	1	0	0
PDSS2	57107	broad.mit.edu	37	6	107531746	107531746	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:107531746T>A	ENST00000369037.4	-	6	1182	c.905A>T	c.(904-906)aAa>aTa	p.K302I	PDSS2_ENST00000453874.2_Intron	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	302					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GGTCTTTTCTTTAATAAAAGG	0.313000													399	368					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950438	235950438	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:235950438C>T	ENST00000409212.1	+	4	1532	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	SH3BP4_ENST00000392011.2_Missense_Mutation_p.P342L|SH3BP4_ENST00000344528.4_Missense_Mutation_p.P342L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	342					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ATCCACGTGCCCGAGGGCCAC	0.637000													18	28					0	0	1	0	0
SIRT6	51548	broad.mit.edu	37	19	4177098	4177098	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:4177098C>T	ENST00000337491.2	-	4	479	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SIRT6_ENST00000601488.1_Missense_Mutation_p.E78K|SIRT6_ENST00000305232.6_Missense_Mutation_p.E139K|SIRT6_ENST00000381935.3_Missense_Mutation_p.E67K|SIRT6_ENST00000594279.1_Missense_Mutation_p.E67K	NM_016539.2	NP_057623.2	Q8N6T7	SIRT6_HUMAN	sirtuin 6	139	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACATTCTTCCACAAACATG	0.592000													4	20					0	0	1	0	0
CRLF3	51379	broad.mit.edu	37	17	29119481	29119481	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:29119481G>A	ENST00000324238.6	-	6	1060	c.936C>T	c.(934-936)ttC>ttT	p.F312F	CRLF3_ENST00000544695.1_Silent_p.F196F|CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	312					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TCTGCCCACAGAAATAAGTCG	0.438000													15	164					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87563280	87563280	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:87563280G>A	ENST00000521271.1	+	13	1182	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K	CPNE3_ENST00000198765.4_Silent_p.K340K	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	340	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TTAGTGATAAGATGTTTCCAG	0.343000													5	16					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999760	72999760	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr18:72999760C>T	ENST00000322038.5	+	2	2847	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	TSHZ1_ENST00000580243.1_Missense_Mutation_p.R800C	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	800						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TGCCATCGACCGCTACTATTA	0.582000													8	38					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75968949	75968949	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr15:75968949C>T	ENST00000308508.5	-	10	6003	c.5911G>A	c.(5911-5913)Gat>Aat	p.D1971N	CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1971	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCCTCCCGATCTGAAACCACC	0.667000													5	46					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167538	140167538	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:140167538G>T	ENST00000504120.2	+	1	1663	c.1663G>T	c.(1663-1665)Gtg>Ttg	p.V555L	PCDHA1_ENST00000378133.3_Missense_Mutation_p.V555L|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTGTTCGTGCTGGACGA	0.687000													15	84					6.94344e-10	7.7106e-10	1	1	0
PARP11	57097	broad.mit.edu	37	12	3923240	3923240	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:3923240C>G	ENST00000228820.4	-	7	807	c.663G>C	c.(661-663)tgG>tgC	p.W221C	PARP11_ENST00000447133.3_Missense_Mutation_p.W140C|PARP11_ENST00000397096.2_Missense_Mutation_p.W214C|PARP11_ENST00000427057.2_Missense_Mutation_p.W140C|PARP11_ENST00000476985.1_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	214	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			CATTTATTCTCCAATCAAAGT	0.383000													14	78					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788562	42788562	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:42788562C>T	ENST00000372980.3	-	2	1737	c.865G>A	c.(865-867)Gag>Aag	p.E289K		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	289					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATGTAGGTCTCGGTGGTGGTG	0.701000													5	41					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152651471	152651471	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:152651471G>A	ENST00000367255.5	-	78	14950	c.14349C>T	c.(14347-14349)caC>caT	p.H4783H	SYNE1_ENST00000341594.5_Silent_p.H4530H|SYNE1_ENST00000423061.1_Silent_p.H4712H|SYNE1_ENST00000448038.1_Silent_p.H4712H|SYNE1_ENST00000265368.4_Silent_p.H4783H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4783					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)		ACATCTTCTCGTGTTCTTGGT	0.468000										HNSCC(10;0.0054)			7	32					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164750420	164750420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:164750420G>A	ENST00000264382.3	-	24	2688	c.2626C>T	c.(2626-2628)Cag>Tag	p.Q876*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	876	Isomaltase.				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)	TTTACAGTCTGAAATGCTAAG	0.348000										HNSCC(35;0.089)			5	54					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98254326	98254326	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:98254326G>A	ENST00000265634.3	+	3	901	c.736G>A	c.(736-738)Gag>Aag	p.E246K		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	246	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GACGCTGCCTGAGCTGTACGC	0.592000													24	130					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21856690	21856690	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:21856690G>A	ENST00000434536.1	+	23	2646	c.2544G>A	c.(2542-2544)ctG>ctA	p.L848L	XPO7_ENST00000433566.4_Silent_p.L840L|XPO7_ENST00000252512.9_Silent_p.L839L			Q9UIA9	XPO7_HUMAN	exportin 7	839					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TCTCCATGCTGAAGGCTGCTC	0.517000													25	94					0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145542172	145542172	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:145542172G>A	ENST00000332324.4	-	6	799	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	DGAT1_ENST00000531896.1_Silent_p.L176L	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	176					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GGGAAACACAGAATGGTGGCC	0.647000													3	17					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185966610	185966610	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:185966610A>C	ENST00000271588.4	+	25	4057	c.3828A>C	c.(3826-3828)caA>caC	p.Q1276H	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q1276H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1276	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTACTTTCCAAGAAAGAGTGG	0.363000													24	27					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64109194	64109194	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:64109194G>C	ENST00000356786.5	+	7	699	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	219					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGGCACGGGAGCGTGACCT	0.662000													5	20					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31112501	31112501	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:31112501C>A	ENST00000396268.3	-	15	2318	c.2130G>T	c.(2128-2130)agG>agT	p.R710S	CCHCR1_ENST00000376266.5_Missense_Mutation_p.R621S|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R568S|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R674S	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	621					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CGTTCAGCCTCCTCTCTGTGT	0.567000													34	165					3.33393e-15	3.73728e-15	1	1	0
FLNC	2318	broad.mit.edu	37	7	128496692	128496692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:128496692G>T	ENST00000325888.8	+	44	7633	c.7372G>T	c.(7372-7374)Gag>Tag	p.E2458*	FLNC_ENST00000346177.6_Nonsense_Mutation_p.E2425*|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2458	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTACGTCTCTGAGCTGGACAG	0.657000													8	39					0.27861	0.27861	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215851337	215851337	+	Silent	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:215851337G>C	ENST00000272895.7	-	28	4311	c.4092C>G	c.(4090-4092)ctC>ctG	p.L1364L	ABCA12_ENST00000389661.4_Silent_p.L1046L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1364	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.L1364L(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGTTCAGATTGAGGTTATCAA	0.428000													10	26					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91866996	91866996	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:91866996G>T	ENST00000394507.1	-	7	1123	c.340C>A	c.(340-342)Cca>Aca	p.P114T	KRIT1_ENST00000394505.2_Missense_Mutation_p.P114T|KRIT1_ENST00000394503.2_Missense_Mutation_p.P114T|KRIT1_ENST00000340022.2_Missense_Mutation_p.P114T|KRIT1_ENST00000412043.2_Missense_Mutation_p.P114T	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	114					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAACTGATGGAACAATAAAT	0.308000													4	37					0.00909568	0.00931561	1	1	0
ZNF285	26974	broad.mit.edu	37	19	44892051	44892051	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:44892051G>A	ENST00000330997.4	-	4	420	c.356C>T	c.(355-357)tCt>tTt	p.S119F	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S119F|ZNF285_ENST00000591679.1_Missense_Mutation_p.S126F	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTCATTTTCAGAAATCTGAAG	0.408000													19	173					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58384994	58384994	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:58384994G>A	ENST00000435989.2	-	3	1998	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	588					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TAAGGTGCCCGATTGAACTAA	0.453000													10	31					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36584982	36584982	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:36584982G>A	ENST00000401500.2	+	20	2418	c.2383G>A	c.(2383-2385)Gga>Aga	p.G795R	WDR62_ENST00000270301.7_Missense_Mutation_p.G795R	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	795					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCTGAGCCCTGGAGAGCAAAC	0.512000													15	151					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183885721	183885721	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:183885721G>A	ENST00000304685.4	+	17	2444	c.1995G>A	c.(1993-1995)gtG>gtA	p.V665V	RGL1_ENST00000539189.1_Silent_p.V601V|RGL1_ENST00000360851.3_Silent_p.V630V|RGL1_ENST00000536277.1_Silent_p.V628V	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1		Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGTCTCGGTGACGTCCATTA	0.502000													14	66					0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28659140	28659140	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:28659140C>G	ENST00000328886.4	-	2	84	c.12G>C	c.(10-12)aaG>aaC	p.K4N	TMIGD1_ENST00000538566.2_Missense_Mutation_p.K4N	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	4						integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TGACACTGCTCTTCCATGCCA	0.363000													4	57					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974441	29974441	+	RNA	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:29974441G>A	ENST00000376797.3	-	0	1346				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							GCCGAGACCTGGGCGGGTGAG	0.731000													3	20					0	0	1	0	0
PQLC1	80148	broad.mit.edu	37	18	77679381	77679381	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr18:77679381G>C	ENST00000397778.2	-	5	593	c.411C>G	c.(409-411)ttC>ttG	p.F137L	PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000409073.1_Missense_Mutation_p.F54L|PQLC1_ENST00000357575.4_Missense_Mutation_p.F119L	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	137						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TCCACTGCCAGAAGTGGTGGG	0.617000													9	28					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124663842	124663842	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:124663842A>T	ENST00000325995.7	-	1	1348	c.1325T>A	c.(1324-1326)aTg>aAg	p.M442K	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	442										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGGGTTCTGCATGATGTCCTC	0.547000													22	73					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24820728	24820728	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:24820728C>G	ENST00000395799.3	+	18	4727	c.4598C>G	c.(4597-4599)tCa>tGa	p.S1533*	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Nonsense_Mutation_p.S11*|TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.S1484*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1533					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GAGCCACAGTCAAGACTAAGG	0.343000													14	34					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39746916	39746916	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:39746916A>T	ENST00000361337.2	+	18	2180	c.1930A>T	c.(1930-1932)Atg>Ttg	p.M644L	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	644					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TGAGAAGTCTATGATGAACTT	0.433000			T	NUP98	AML*								42	64					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99457467	99457467	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:99457467G>A	ENST00000354829.2	+	10	983	c.880G>A	c.(880-882)Gag>Aag	p.E294K	CYP3A43_ENST00000342499.4_Missense_Mutation_p.E154K|CYP3A43_ENST00000312017.5_Missense_Mutation_p.E294K|CYP3A43_ENST00000417625.1_Missense_Mutation_p.E184K|CYP3A43_ENST00000415413.1_Missense_Mutation_p.E83K|CYP3A43_ENST00000444905.1_Missense_Mutation_p.E41K|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Missense_Mutation_p.E294K	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	294			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GTCTGATCTGGAGCTTGTGGC	0.433000													22	147					0	0	1	0	0
TMUB1	83590	broad.mit.edu	37	7	150779321	150779321	+	Silent	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:150779321G>C	ENST00000392818.3	-	2	687	c.330C>G	c.(328-330)ctC>ctG	p.L110L	TMUB1_ENST00000297533.4_Silent_p.L110L|TMUB1_ENST00000462940.1_Silent_p.L110L|TMUB1_ENST00000476627.1_Silent_p.L110L|TMUB1_ENST00000482202.1_Silent_p.L110L	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	110	Ubiquitin-like.					cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGAATCATTGAGGAATTTCA	0.607000													25	194					0	0	1	0	0
CENPU	79682	broad.mit.edu	37	4	185646129	185646129	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:185646129C>G	ENST00000281453.5	-	4	372	c.302G>C	c.(301-303)gGa>gCa	p.G101A	MLF1IP_ENST00000541971.1_Missense_Mutation_p.G101A	NM_024629.3	NP_078905.2	Q71F23	CENPU_HUMAN		101					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		TGCTTCTTTTCCTGGAGGAGT	0.353000													16	48					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14537949	14537949	+	Missense_Mutation	SNP	A	A	G	rs7505568	by1000genomes	TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr18:14537949A>G	ENST00000358970.5	-	3	660	c.661T>C	c.(661-663)Tgt>Cgt	p.C221R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	221			C -> R (in dbSNP:rs7505568).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATTAACACACATTCATCTTCC	0.368000													6	73					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27878146	27878146	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:27878146C>T	ENST00000374011.2	-	6	1449	c.481G>A	c.(481-483)Ggc>Agc	p.G161S	AHDC1_ENST00000247087.5_Missense_Mutation_p.G161S	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	161	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGTAGGTCGCCGGGTGGCGGT	0.657000													26	57					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065731	9065731	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:9065731C>G	ENST00000397910.4	-	3	21918	c.21715G>C	c.(21715-21717)Gag>Cag	p.E7239Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7241	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAATTGACTCTTTCTGAATT	0.468000													23	103					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4789452	4789452	+	Silent	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:4789452C>G	ENST00000355280.6	+	9	928	c.732C>G	c.(730-732)ctC>ctG	p.L244L	MINK1_ENST00000347992.7_Silent_p.L244L|MINK1_ENST00000453408.3_Silent_p.L244L	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	244	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCCTCTTCCTCATTCCTCGGA	0.597000													9	40					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102478670	102478670	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr14:102478670G>C	ENST00000360184.4	+	34	7041	c.6877G>C	c.(6877-6879)Ggc>Cgc	p.G2293R		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2293	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGCGTGAGAGGCGAGCTGCA	0.458000													11	59					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654931	61654931	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:61654931C>G	ENST00000423902.2	+	2	1419	c.940C>G	c.(940-942)Cct>Gct	p.P314A	CHD7_ENST00000524602.1_Missense_Mutation_p.P314A|CHD7_ENST00000525508.1_Missense_Mutation_p.P314A	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	314					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTCTCGATATCCTTACAGTAA	0.418000													14	74					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63177281	63177281	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:63177281G>C	ENST00000279178.3	+	10	1858	c.1609G>C	c.(1609-1611)Gac>Cac	p.D537H	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	537					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TAGGAGAAAAGACCCCAGAGA	0.413000													9	28					0	0	1	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987036	7987036	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:7987036C>T	ENST00000221573.6	+	4	540	c.489C>T	c.(487-489)ccC>ccT	p.P163P	SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	163					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						AGGAAGACCCCGCCCCTGAAA	0.657000													13	63					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113262	18113262	+	Silent	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:18113262C>G	ENST00000403915.1	+	3	1438	c.987C>G	c.(985-987)ctC>ctG	p.L329L	KCNS3_ENST00000304101.4_Silent_p.L329L|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	329					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCTGCTTCTCTTCCTCTCTG	0.517000													38	57					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110302429	110302429	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:110302429C>G	ENST00000369805.3	-	4	355	c.126G>C	c.(124-126)caG>caC	p.Q42H	EPS8L3_ENST00000361965.4_Missense_Mutation_p.Q42H|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.Q42H	NM_139053.2	NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	42						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGACTCTCTGACTCCCCT	0.607000													9	26					0	0	1	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954386	10954386	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:10954386C>G	ENST00000240687.2	-	1	840	c.784G>C	c.(784-786)Gag>Cag	p.E262Q		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	262					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						AATTCCGTCTCTGGCATAAAG	0.423000													9	65					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43150563	43150563	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:43150563G>A	ENST00000342374.4	-	1	187	c.30C>T	c.(28-30)ctC>ctT	p.L10L	SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000255175.1_Silent_p.L10L|SERINC3_ENST00000468234.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	10						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CCCAGCTGGCGAGGGAGAAGA	0.652000													14	12					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112336849	112336849	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:112336849C>T	ENST00000389063.2	+	5	699	c.501C>T	c.(499-501)atC>atT	p.I167I	DCP2_ENST00000543319.1_5'UTR|DCP2_ENST00000515408.1_Silent_p.I167I	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	167	Nudix hydrolase.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		AACTTCGAATCAATGACCAGC	0.328000													15	35					0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37310167	37310167	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:37310167T>C	ENST00000356725.4	-	5	1199	c.1079A>G	c.(1078-1080)cAt>cGt	p.H360R	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTCACCAGTATGAATTCTCTG	0.393000													14	76					0	0	1	0	0
EFCAB1	79645	broad.mit.edu	37	8	49647690	49647690	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:49647690C>T	ENST00000433756.1	-	1	180	c.21G>A	c.(19-21)caG>caA	p.Q7Q	EFCAB1_ENST00000523092.1_Silent_p.Q7Q|EFCAB1_ENST00000262103.3_Silent_p.Q7Q|EFCAB1_ENST00000521002.1_5'UTR	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	7							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CCGTCAGCTTCTGCAGTTTCT	0.627000													10	81					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38028662	38028662	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:38028662C>T	ENST00000377940.3	+	4	619	c.480C>T	c.(478-480)gtC>gtT	p.V160V	ZPBP2_ENST00000348931.4_Silent_p.V182V|ZPBP2_ENST00000584588.1_Intron	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	182					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			CATGCCATGTCATAGAGCCAT	0.328000													20	30					0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37425330	37425330	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr22:37425330G>A	ENST00000397225.2	+	3	1584	c.669G>A	c.(667-669)gaG>gaA	p.E223E	MPST_ENST00000404393.1_3'UTR|MPST_ENST00000341116.3_Silent_p.E223E|MPST_ENST00000404802.3_Silent_p.E223E|MPST_ENST00000401419.3_Silent_p.E223E|MPST_ENST00000397129.1_Silent_p.E243E|MPST_ENST00000429360.2_Silent_p.E223E			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	223	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						AGGGGCTGGAGAAGAGCCCTG	0.612000													7	9					0	0	1	0	0
PSPH	5723	broad.mit.edu	37	7	56079509	56079509	+	Silent	SNP	G	G	A	rs146008713	byFrequency	TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:56079509G>A	ENST00000395471.3	-	8	1429	c.624C>T	c.(622-624)aaC>aaT	p.N208N	PSPH_ENST00000275605.3_Silent_p.N208N|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase	208					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACCATTTGGCGTTATCCTTGA	0.353000													5	56					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144390332	144390332	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:144390332G>C	ENST00000262995.4	+	11	2592	c.2165G>C	c.(2164-2166)aGt>aCt	p.S722T	GAB1_ENST00000262994.4_Missense_Mutation_p.S692T|GAB1_ENST00000505913.1_Missense_Mutation_p.S589T	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	692					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CCAGCGAAGAGTGTGAAATGA	0.418000													5	31					0	0	1	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44512571	44512571	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:44512571C>A	ENST00000372523.1	+	2	1435	c.1340C>A	c.(1339-1341)aCc>aAc	p.T447N	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.T447N	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	447							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				ACTCACCTCACCGAGGAGGTG	0.602000													9	149					1.58986e-06	1.72356e-06	1	1	0
DENND5A	23258	broad.mit.edu	37	11	9191466	9191466	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:9191466C>T	ENST00000328194.3	-	10	2408	c.2088G>A	c.(2086-2088)tgG>tgA	p.W696*	DENND5A_ENST00000530044.1_Nonsense_Mutation_p.W696*|DENND5A_ENST00000527700.1_Nonsense_Mutation_p.W39*	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	696										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTTCCGCCTCCACTGGGCAG	0.448000													16	73					0	0	1	0	0
TAB3	257397	broad.mit.edu	37	X	30873254	30873254	+	Silent	SNP	T	T	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chrX:30873254T>C	ENST00000378933.1	-	3	705	c.528A>G	c.(526-528)tcA>tcG	p.S176S	TAB3_ENST00000378932.2_Silent_p.S176S|TAB3_ENST00000288422.2_Silent_p.S176S|TAB3_ENST00000378930.3_Silent_p.S176S	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	176	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GCGGTGGTGGTGAAGGCCCTT	0.488000													47	11					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94897911	94897911	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:94897911G>A	ENST00000289495.5	+	11	2865	c.2649G>A	c.(2647-2649)ctG>ctA	p.L883L	PPP1R9A_ENST00000424654.1_Silent_p.L883L|PPP1R9A_ENST00000340694.4_Silent_p.L883L|PPP1R9A_ENST00000456331.2_Silent_p.L883L|PPP1R9A_ENST00000433881.1_Silent_p.L883L|PPP1R9A_ENST00000433360.1_Silent_p.L905L	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	883	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAAAGCACTGAAAACTCGAG	0.458000										HNSCC(28;0.073)			7	38					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1634506	1634506	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:1634506G>A	ENST00000409644.1	+	4	4111	c.4111G>A	c.(4111-4113)Gag>Aag	p.E1371K	WDR81_ENST00000419248.1_Missense_Mutation_p.E144K|WDR81_ENST00000437219.2_Missense_Mutation_p.E168K|WDR81_ENST00000309182.5_Missense_Mutation_p.E320K|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Intron|WDR81_ENST00000446363.1_Missense_Mutation_p.E10K	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	144										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GATCAGCCATGAGGTCCTGCT	0.657000													3	16					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142691477	142691477	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:142691477A>G	ENST00000230173.6	+	4	1092	c.616A>G	c.(616-618)Aat>Gat	p.N206D	GPR126_ENST00000367609.3_Missense_Mutation_p.N206D|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367608.2_Missense_Mutation_p.N206D|GPR126_ENST00000296932.8_Missense_Mutation_p.N206D	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	206	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTCCTACTCAAATGCATCCTT	0.403000													18	26					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39637854	39637854	+	Silent	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr18:39637854C>G	ENST00000262039.4	+	22	2357	c.2271C>G	c.(2269-2271)ctC>ctG	p.L757L	PIK3C3_ENST00000588156.1_5'UTR|PIK3C3_ENST00000398870.3_Silent_p.L694L|PIK3C3_ENST00000593098.1_Silent_p.L242L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	757	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CAGGCAAACTCTTCCACATAG	0.403000										TSP Lung(28;0.18)			15	36					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74429798	74429798	+	Silent	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:74429798G>T	ENST00000376332.3	-	2	658	c.162C>A	c.(160-162)ggC>ggA	p.G54G	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.G54G	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	54	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AGTACATCAGGCCTTGTGGCT	0.592000													7	6					8.12818e-05	8.59182e-05	1	1	0
C19orf44	84167	broad.mit.edu	37	19	16613997	16613997	+	Nonsense_Mutation	SNP	C	C	G	rs150685247		TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:16613997C>G	ENST00000221671.3	+	3	1037	c.881C>G	c.(880-882)tCa>tGa	p.S294*	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Nonsense_Mutation_p.S294*	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	294										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGCACTCGCTCAAGAGCAGAC	0.542000													17	35					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10659604	10659604	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:10659604T>A	ENST00000309469.4	+	6	1033	c.860T>A	c.(859-861)cTg>cAg	p.L287Q	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	287					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GTGGCACGCCTGGTGGCCAGG	0.652000													10	36					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201982416	201982416	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:201982416G>C	ENST00000359651.3	+	6	3987	c.795G>C	c.(793-795)aaG>aaC	p.K265N	ELF3_ENST00000367284.5_Missense_Mutation_p.K265N|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.K265N			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	265					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AGGGCAAGAAGAGCAAGCACG	0.642000													7	27					0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	25038537	25038537	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:25038537C>T	ENST00000323482.4	-	1	281	c.202G>A	c.(202-204)Gag>Aag	p.E68K	ACSS1_ENST00000432802.2_Missense_Mutation_p.E68K|ACSS1_ENST00000376726.3_Missense_Mutation_p.E68K	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	68					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCGGCCGGCTCCCGGGCTGCC	0.711000													6	20					0	0	1	0	0
TRAJ39	28716	broad.mit.edu	37	14	22970610	22970610	+	RNA	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr14:22970610C>T	ENST00000390498.1	+	0	26																											GCAACATGCTCACCTTTGGAG	0.433000													19	37					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113935159	113935159	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:113935159C>T	ENST00000335953.4	+	2	1517	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	ZBTB16_ENST00000392996.2_Silent_p.F379F	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	379					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CCCAGGGCTTCATCCAGAGGG	0.642000													10	39					0	0	1	0	0
GLRX3	10539	broad.mit.edu	37	10	131959123	131959123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:131959123C>T	ENST00000368644.1	+	4	362	c.340C>T	c.(340-342)Cga>Tga	p.R114*	GLRX3_ENST00000331244.5_Nonsense_Mutation_p.R114*	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	114	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AAAAGTTCAGCGACATGCATC	0.418000													19	44					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187630	140187630	+	Silent	SNP	G	G	A	rs150161354		TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:140187630G>A	ENST00000530339.1	+	1	858	c.858G>A	c.(856-858)tcG>tcA	p.S286S	PCDHA4_ENST00000356878.4_Silent_p.S286S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.S286S|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGATATTTCGCCAAATGTGA	0.313000													10	66					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33090938	33090938	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:33090938T>C	ENST00000306065.4	-	27	2944	c.2786A>G	c.(2785-2787)gAt>gGt	p.D929G		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	929					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ATCTGGTAGATCATACAGTTT	0.338000													28	15					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156348025	156348025	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:156348025C>T	ENST00000400992.2	+	4	780	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	RHBG_ENST00000451864.2_Missense_Mutation_p.L138F|RHBG_ENST00000368249.1_Intron|RHBG_ENST00000368246.2_Intron|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000255013.3_Intron			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	177					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GGTGCTGCCTCTCACCCCACC	0.667000													14	56					0	0	1	0	0
BAMBI	25805	broad.mit.edu	37	10	28971202	28971202	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:28971202G>A	ENST00000375533.3	+	3	1211	c.655G>A	c.(655-657)Gtc>Atc	p.V219I		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	219					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CATGGTGCCGGTCAGTGGGCA	0.512000													11	42					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35053650	35053650	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:35053650G>C	ENST00000360359.3	+	22	3378	c.3240G>C	c.(3238-3240)gaG>gaC	p.E1080D	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	1080	PID.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGCAGCTGAGATGATTGAAA	0.612000													7	14					0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882920	78882920	+	Missense_Mutation	SNP	C	C	T	rs143586773		TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr15:78882920C>T	ENST00000299565.5	+	5	1387	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	396					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TTGGAAGCTGCGCTCGATTCT	0.408000													12	33					0	0	1	0	0
MC1R	4157	broad.mit.edu	37	16	89986437	89986437	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:89986437C>G	ENST00000555427.1	+	3	3074	c.771C>G	c.(769-771)ttC>ttG	p.F257L	RP11-566K11.4_ENST00000554623.1_RNA|MC1R_ENST00000555147.1_Missense_Mutation_p.F257L|TUBB3_ENST00000556922.1_Missense_Mutation_p.F257L					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGGGCCCCTTCTTCCTGCATC	0.587000									Melanoma, Familial Clustering of				10	55					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654949	61654949	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:61654949C>G	ENST00000423902.2	+	2	1437	c.958C>G	c.(958-960)Cag>Gag	p.Q320E	CHD7_ENST00000524602.1_Missense_Mutation_p.Q320E|CHD7_ENST00000525508.1_Missense_Mutation_p.Q320E	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	320					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TAACCTAAATCAGGGATTAGT	0.413000													10	67					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1639255	1639255	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:1639255G>A	ENST00000252804.4	-	22	4295	c.4245C>T	c.(4243-4245)tgC>tgT	p.C1415C		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1415	VWFC.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGGCATCCACGCACTCTGTGG	0.468000													3	4					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30098345	30098345	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr13:30098345G>A	ENST00000380752.5	-	6	1136	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	250					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAGAACCCGAAGGGCATGA	0.567000													5	39					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176712	41176712	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:41176712G>T	ENST00000263413.3	-	8	1297	c.1033C>A	c.(1033-1035)Ctg>Atg	p.L345M	C6_ENST00000337836.5_Missense_Mutation_p.L345M|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	345	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.L345V(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTAGAGGCAGATGGTTAAGT	0.408000													11	39					1.49906e-05	1.60459e-05	1	1	0
SLC23A3	151295	broad.mit.edu	37	2	220034642	220034642	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:220034642G>C	ENST00000455516.2	-	1	112	c.65C>G	c.(64-66)cCc>cGc	p.P22R	SLC23A3_ENST00000396775.3_5'UTR|SLC23A3_ENST00000295738.7_Missense_Mutation_p.P22R|SLC23A3_ENST00000409878.3_Missense_Mutation_p.P22R	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	22					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAGGCAAGGGGGCCAGGGC	0.622000													6	42					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137328325	137328325	+	Silent	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:137328325C>G	ENST00000540193.1	+	9	1886	c.963C>G	c.(961-963)ctC>ctG	p.L321L	RXRA_ENST00000481739.1_Silent_p.L418L|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	418	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	TCGCTAAGCTCTTGCTCCGCC	0.617000													5	38					0	0	1	0	0
SLC16A1	6566	broad.mit.edu	37	1	113459950	113459950	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:113459950C>T	ENST00000538576.1	-	4	1909	c.1078G>A	c.(1078-1080)Gcg>Acg	p.A360T	SLC16A1_ENST00000433570.4_Missense_Mutation_p.A360T|SLC16A1_ENST00000369626.3_Missense_Mutation_p.A360T	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	360					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AAGAATCCCGCATAGACACAG	0.473000													6	11					0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36252892	36252892	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr21:36252892C>G	ENST00000344691.4	-	2	1966	c.389G>C	c.(388-390)aGa>aCa	p.R130T	RUNX1_ENST00000399240.1_Missense_Mutation_p.R130T|RUNX1_ENST00000300305.3_Missense_Mutation_p.R157T|RUNX1_ENST00000486278.2_Missense_Mutation_p.R133T|RUNX1_ENST00000437180.1_Missense_Mutation_p.R157T|RUNX1_ENST00000358356.5_Missense_Mutation_p.R130T|RUNX1_ENST00000325074.5_Missense_Mutation_p.R145T	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	130	Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GTCATTAAATCTTGCAACCTG	0.458000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								6	23					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10438445	10438445	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:10438445G>A	ENST00000245503.5	-	19	2509	c.2125C>T	c.(2125-2127)Cgc>Tgc	p.R709C	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R709C	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	709	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R709C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTACAGATGCGGATGCCTTCC	0.433000													8	32					0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959262	10959262	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:10959262G>C	ENST00000240615.2	-	1	630	c.318C>G	c.(316-318)ttC>ttG	p.F106L		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	106					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCAGAAAATAGAAGACATTAA	0.388000													16	88					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32812068	32812068	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr13:32812068C>T	ENST00000380250.3	+	44	6859	c.6363C>T	c.(6361-6363)ttC>ttT	p.F2121F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCAGCTCTTCAGTCTGCTGA	0.552000													12	280					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32911065	32911065	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr13:32911065G>C	ENST00000544455.1	+	11	2800	c.2573G>C	c.(2572-2574)aGa>aCa	p.R858T	BRCA2_ENST00000380152.3_Missense_Mutation_p.R858T	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	858	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACAAATCTAAGAGTAATCCAA	0.313000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			13	143					0	0	1	0	0
ENSA	2029	broad.mit.edu	37	1	150598140	150598140	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:150598140G>C	ENST00000271690.8	-	3	434	c.328C>G	c.(328-330)Ctc>Gtc	p.L110V	ENSA_ENST00000369014.5_Missense_Mutation_p.L110V|ENSA_ENST00000356527.5_Missense_Mutation_p.L133V|ENSA_ENST00000513281.1_Missense_Mutation_p.L106V|ENSA_ENST00000369009.3_Missense_Mutation_p.L133V|ENSA_ENST00000503345.1_3'UTR|ENSA_ENST00000361631.5_Missense_Mutation_p.L122V|ENSA_ENST00000339643.5_Missense_Mutation_p.L126V|ENSA_ENST00000369016.4_Missense_Mutation_p.L126V|ENSA_ENST00000361532.5_Missense_Mutation_p.L106V|ENSA_ENST00000503241.1_Missense_Mutation_p.L126V|ENSA_ENST00000354702.3_5'UTR	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	endosulfine alpha	110					cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGTGACGAGCGAGGACTTT	0.552000													8	74					0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156697061	156697061	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:156697061C>G	ENST00000313146.6	-	1	1166	c.384G>C	c.(382-384)aaG>aaC	p.K128N	ISG20L2_ENST00000368219.1_Missense_Mutation_p.K128N	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	128					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCTATTGATCTTTGGAAGGG	0.498000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	74					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256566	115256566	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:115256566C>T	ENST00000369535.4	-	3	398	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	49					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.E49K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAACAGGTTTCACCATCTATA	0.463000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			22	71					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27089646	27089646	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:27089646C>G	ENST00000261191.7	-	2	627	c.91G>C	c.(91-93)Gat>Cat	p.D31H	ASUN_ENST00000539625.1_Intron	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	31					cell division|mitosis|regulation of mitotic cell cycle		protein binding										ACCAGCATATCAAACTCGACA	0.383000													10	42					0	0	1	0	0
RDH11	51109	broad.mit.edu	37	14	68157131	68157131	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr14:68157131G>A	ENST00000381346.4	-	5	572	c.462C>T	c.(460-462)ttC>ttT	p.F154F	RDH11_ENST00000553384.1_Silent_p.F141F|RDH11_ENST00000428130.2_Intron	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	154					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GGGTTAGGAGGAAGTGACCTG	0.478000													25	39					0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89760482	89760482	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr15:89760482G>A	ENST00000268125.5	-	5	654	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	72					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity	p.A72V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GGCCGCCTGCGCCTGCACCAT	0.652000													5	40					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227964340	227964340	+	Silent	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:227964340G>C	ENST00000396625.3	-	18	1302	c.1095C>G	c.(1093-1095)ctC>ctG	p.L365L	COL4A4_ENST00000329662.7_Silent_p.L365L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	365	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACAAACCTTTGAGTGGAAGAG	0.453000													4	30					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170044738	170044738	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:170044738C>T	ENST00000263816.3	-	49	9355	c.9070G>A	c.(9070-9072)Gag>Aag	p.E3024K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3024	LDL-receptor class A 23.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGCCCCTCTCGTCGCTATAG	0.473000													6	58					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83689824	83689824	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:83689824C>G	ENST00000265362.4	-	5	818	c.504G>C	c.(502-504)aaG>aaC	p.K168N	SEMA3A_ENST00000436949.1_Missense_Mutation_p.K168N	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CATATGGACTCTTCCCACGGC	0.343000													15	115					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2927742	2927742	+	Splice_Site	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:2927742G>C	ENST00000355842.3	+	16	2720	c.1857G>C	c.(1855-1857)gaG>gaC	p.E619D	ADD1_ENST00000513328.2_Splice_Site_p.E588D|ADD1_ENST00000398123.2_Splice_Site_p.E619D|ADD1_ENST00000398125.1_Splice_Site_p.E619D|ADD1_ENST00000446856.1_Splice_Site_p.E588D|ADD1_ENST00000398129.1_Splice_Site_p.E588D|ADD1_ENST00000264758.7_Splice_Site_p.E619D|ADD1_ENST00000503455.2_Splice_Site_p.E619D			P35611	ADDA_HUMAN	adducin 1 (alpha)	588					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCTCTGCAGAGAATCTGGACG	0.612000													7	22					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113514725	113514725	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr13:113514725A>G	ENST00000487903.1	+	24	2940	c.2852A>G	c.(2851-2853)tAc>tGc	p.Y951C	ATP11A_ENST00000375645.3_Missense_Mutation_p.Y951C|ATP11A_ENST00000283558.8_Missense_Mutation_p.Y951C|ATP11A_ENST00000375630.2_Missense_Mutation_p.Y951C			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	951					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CCGACCCTGTACAGGTACCAT	0.547000													57	52					0	0	1	0	0
MAZ	4150	broad.mit.edu	37	16	29818739	29818739	+	Silent	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:29818739C>A	ENST00000219782.6	+	2	739	c.633C>A	c.(631-633)atC>atA	p.I211I	MAZ_ENST00000563402.1_Intron|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000322945.6_Silent_p.I211I|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000545521.1_Silent_p.I188I|AC009133.15_ENST00000566537.1_RNA	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	211					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ACGAAGCCATCCACACGGGAG	0.637000													9	21					2.80697e-09	3.09969e-09	1	1	0
CHGB	1114	broad.mit.edu	37	20	5904196	5904196	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:5904196G>C	ENST00000378961.4	+	4	1610	c.1406G>C	c.(1405-1407)aGa>aCa	p.R469T		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	469						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGCTGGACAGAAATTATCTC	0.517000													19	57					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58102455	58102455	+	Missense_Mutation	SNP	C	C	T	rs149356470	byFrequency	TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:58102455C>T	ENST00000597850.1	+	4	1491	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.R371W|ZIK1_ENST00000536878.2_Missense_Mutation_p.R413W	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TATTCAACACCGGAGAATTCA	0.458000													15	22					0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14943458	14943458	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:14943458C>T	ENST00000261167.2	-	10	1474	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	414	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AGGTGGTGGTCCAAGAGGTGG	0.547000													24	56					0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34706098	34706098	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:34706098C>G	ENST00000544216.3	+	5	685	c.608C>G	c.(607-609)tCa>tGa	p.S203*	LSM14A_ENST00000433627.5_Nonsense_Mutation_p.S203*|LSM14A_ENST00000540746.2_Nonsense_Mutation_p.S162*	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	203					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CAGACCGCCTCAGCCCACTTA	0.512000													11	97					0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41201947	41201947	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:41201947C>G	ENST00000324464.3	-	13	1457	c.1156G>C	c.(1156-1158)Gac>Cac	p.D386H	ADCK4_ENST00000243583.6_Missense_Mutation_p.D345H|ADCK4_ENST00000450541.1_Missense_Mutation_p.D345H	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	386	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCACCAAAGTCCAGCAGGGTC	0.572000													8	205					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23296615	23296615	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:23296615G>A	ENST00000258733.4	+	4	767	c.472G>A	c.(472-474)Gat>Aat	p.D158N	GPNMB_ENST00000539136.1_Missense_Mutation_p.D59N|GPNMB_ENST00000409458.3_Missense_Mutation_p.D158N|GPNMB_ENST00000381990.2_Missense_Mutation_p.D158N|GPNMB_ENST00000453162.2_Intron			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	158					negative regulation of cell proliferation	melanosome		p.D158H(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGTCTTCCCTGATGGGAAACC	0.483000													29	61					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52800415	52800415	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:52800415C>T	ENST00000287727.3	+	15	3817	c.3645C>T	c.(3643-3645)taC>taT	p.Y1215Y	ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000371591.1_Silent_p.Y1215Y|ZFYVE9_ENST00000357206.2_Silent_p.Y1156Y			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1215					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CTTCTGGATACCTTGCCAAGT	0.403000													11	48					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220792050	220792050	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:220792050C>T	ENST00000402574.1	+	9	1459	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	MARK1_ENST00000366918.4_Silent_p.L266L|MARK1_ENST00000366917.4_Silent_p.L288L	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	288	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGAAAATCTTCTGAAGAAATT	0.333000													5	40					0	0	1	0	0
POLE3	54107	broad.mit.edu	37	9	116171959	116171959	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:116171959C>G	ENST00000374171.4	-	4	372	c.202G>C	c.(202-204)Gat>Cat	p.D68H	POLE3_ENST00000374169.3_Missense_Mutation_p.D68H|POLE3_ENST00000479871.1_5'UTR	NM_001278255.1|NM_017443.4	NP_001265184.1|NP_059139.3	Q9NRF9	DPOE3_HUMAN	polymerase (DNA directed), epsilon 3, accessory subunit	68					DNA replication|histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding			large_intestine(2)|lung(1)	3						GAGAGCACATCACTGGCATTC	0.478000													12	33					0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20131232	20131232	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr22:20131232C>T	ENST00000334554.7	+	10	2220	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F	ZDHHC8_ENST00000320602.7_Silent_p.F601F|ZDHHC8_ENST00000405930.3_Silent_p.F693F	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	693						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CTGTCGCCTTCATCCACACGG	0.706000													6	11					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41408867	41408867	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:41408867G>A	ENST00000373198.4	-	4	794	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	PTPRT_ENST00000373190.1_Missense_Mutation_p.H187Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.H187Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.H187Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.H187Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.H187Y|PTPRT_ENST00000373187.1_Missense_Mutation_p.H187Y	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.H187Y(4)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGCATGGATGAGCAAGGACC	0.517000													49	67					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6167798	6167798	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:6167798C>T	ENST00000264870.3	-	13	2066	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	601					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GACGCTTGTTCCAGCAGCTGA	0.527000													3	17					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393557	145393557	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:145393557C>T	ENST00000511217.1	+	4	1044	c.992C>T	c.(991-993)tCc>tTc	p.S331F	SH3RF2_ENST00000359120.4_Missense_Mutation_p.S331F			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	331							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCATCAGCTCCAGCAACCCC	0.547000													17	124					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19745721	19745721	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr19:19745721G>A	ENST00000203556.4	-	17	1904	c.1767C>T	c.(1765-1767)agC>agT	p.S589S	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Silent_p.S560S|GMIP_ENST00000587238.1_Silent_p.S563S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	589	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCGGGACCCGCTGACCCGGT	0.607000													13	42					0	0	1	0	0
WASH6P	653440	broad.mit.edu	37	X	155254749	155254749	+	RNA	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chrX:155254749G>A	ENST00000285718.7	+	0	1194				WASH6P_ENST00000461007.1_RNA																							TCAACAAGCTGGTCATGAGGC	0.572000													3	5					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158560363	158560363	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:158560363C>T	ENST00000251527.5	-	8	1115	c.1050G>A	c.(1048-1050)ttG>ttA	p.L350L		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	378						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CAGGAAACCGCAACTGAGCTA	0.448000													8	46					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79173586	79173586	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr4:79173586C>G	ENST00000264895.6	+	5	790	c.350C>G	c.(349-351)tCt>tGt	p.S117C	FRAS1_ENST00000264899.6_Missense_Mutation_p.S117C|FRAS1_ENST00000325942.6_Missense_Mutation_p.S117C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	117	VWFC 2.				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						AGTGTGTGCTCTTGCAATCAT	0.512000													12	57					0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49815937	49815937	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:49815937C>G	ENST00000335847.4	-	4	372	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	CRISP1_ENST00000507853.1_Missense_Mutation_p.E91Q|CRISP1_ENST00000505118.1_Missense_Mutation_p.E91Q|CRISP1_ENST00000536021.1_Missense_Mutation_p.E91Q|CRISP1_ENST00000355791.2_Missense_Mutation_p.E91Q|CRISP1_ENST00000329411.5_Missense_Mutation_p.E91Q	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	91					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					AGTCTCCTCTCAAGGGGGTTG	0.373000													10	52					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089973	113089973	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr2:113089973A>G	ENST00000409871.1	+	12	3879	c.3478A>G	c.(3478-3480)Acc>Gcc	p.T1160A	ZC3H6_ENST00000343936.4_Missense_Mutation_p.T1160A	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1160							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GGGGAGCCCGACCCCAGATAA	0.478000													7	57					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080538	29080538	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:29080538C>G	ENST00000377169.1	+	1	871	c.871C>G	c.(871-873)Cta>Gta	p.L291V		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCTTAACCCTCTAATCTACAC	0.433000													7	49					0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37425343	37425343	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr22:37425343G>A	ENST00000397225.2	+	3	1597	c.682G>A	c.(682-684)Gag>Aag	p.E228K	MPST_ENST00000404393.1_3'UTR|MPST_ENST00000341116.3_Missense_Mutation_p.E228K|MPST_ENST00000404802.3_Missense_Mutation_p.E228K|MPST_ENST00000401419.3_Missense_Mutation_p.E228K|MPST_ENST00000397129.1_Missense_Mutation_p.E248K|MPST_ENST00000429360.2_Missense_Mutation_p.E228K			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	228	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						GAGCCCTGAGGAGATCCGCCA	0.607000													8	11					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117122078	117122078	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:117122078C>A	ENST00000369486.3	-	10	4035	c.3270G>T	c.(3268-3270)caG>caT	p.Q1090H	IGSF3_ENST00000318837.6_Missense_Mutation_p.Q1110H|IGSF3_ENST00000369483.1_Missense_Mutation_p.Q1110H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1090	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACCATTCCTTCTGAGGGCTGG	0.587000													10	41					2.17888e-05	2.32806e-05	1	1	0
CDRT1	374286	broad.mit.edu	37	17	15516018	15516018	+	Silent	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr17:15516018C>T	ENST00000455584.2	-	11	2092	c.2049G>A	c.(2047-2049)acG>acA	p.T683T	CDRT1_ENST00000395906.3_Silent_p.T373T																							AACCCACCTTCGTTCTCAACT	0.483000													32	116					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112346480	112346480	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr5:112346480A>G	ENST00000389063.2	+	10	1273	c.1075A>G	c.(1075-1077)Aaa>Gaa	p.K359E	DCP2_ENST00000543319.1_Missense_Mutation_p.K148E|DCP2_ENST00000515408.1_Missense_Mutation_p.K324E	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	359					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TCATCCACGGAAACTTCAGGA	0.318000													19	19					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62172818	62172818	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr15:62172818G>C	ENST00000261517.5	-	73	10065	c.9992C>G	c.(9991-9993)tCt>tGt	p.S3331C	VPS13C_ENST00000395896.4_Missense_Mutation_p.S3331C|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.S3288C|VPS13C_ENST00000395898.3_Missense_Mutation_p.S3288C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3331					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTCACAGGAGAAATATGGAA	0.294000													3	24					0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90427362	90427362	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:90427362G>A	ENST00000394375.3	+	4	285	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	LIPF_ENST00000238983.4_Missense_Mutation_p.E48K|LIPF_ENST00000608620.1_Missense_Mutation_p.E48K|LIPF_ENST00000355843.2_Missense_Mutation_p.E58K	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	48					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CCCAAATGAAGAATATGAAGT	0.294000													12	46					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4966476	4966476	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chrY:4966476T>C	ENST00000333703.4	+	5	1337	c.824T>C	c.(823-825)aTt>aCt	p.I275T	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.I286T|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.I286T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	286	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGACAGAGATTGAAGTCAGT	0.433000													3	39					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639029	6639029	+	Silent	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr1:6639029C>G	ENST00000333172.6	+	6	2104	c.1911C>G	c.(1909-1911)ctC>ctG	p.L637L	TAS1R1_ENST00000351136.3_Silent_p.L383L|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	637					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCCAGGCCCTCTTTGCCCTTG	0.527000													12	36					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760767	92760767	+	Silent	SNP	G	G	C			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:92760767G>C	ENST00000318238.4	-	5	5734	c.4518C>G	c.(4516-4518)ctC>ctG	p.L1506L	SAMD9L_ENST00000437805.1_Silent_p.L1506L|SAMD9L_ENST00000411955.1_Silent_p.L1506L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1506										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)			CACTGTGCCAGAGGGAATTTG	0.423000													29	72					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904420	5904420	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr20:5904420G>A	ENST00000378961.4	+	4	1834	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	544						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAACATGAATGACAATTTTCT	0.448000													12	57					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49743442	49743442	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:49743442G>A	ENST00000327697.6	+	25	2476	c.2332G>A	c.(2332-2334)Gaa>Aaa	p.E778K	RNF123_ENST00000432042.1_Missense_Mutation_p.E632K	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	778						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGATGTCAATGAATACGCTAT	0.567000													19	37					0	0	1	0	0
UBQLN1	29979	broad.mit.edu	37	9	86281346	86281346	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:86281346C>T	ENST00000376395.4	-	8	1774	c.1251G>A	c.(1249-1251)atG>atA	p.M417I	UBQLN1_ENST00000257468.7_Intron	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	417					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TATTCAGCATCATCTATGGGG	0.403000													9	33					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20949618	20949618	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:20949618A>G	ENST00000380249.1	+	35	4256	c.3892A>G	c.(3892-3894)Atc>Gtc	p.I1298V	FOCAD_ENST00000338382.6_Missense_Mutation_p.I1298V|FOCAD_ENST00000605086.1_Missense_Mutation_p.I734V	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1298						integral to membrane	binding										ATCAGAAGCCATCCAGACCTC	0.398000													46	62					0	0	1	0	0
RPS13	6207	broad.mit.edu	37	11	17098723	17098723	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:17098723G>T	ENST00000525634.1	-	3	288	c.143C>A	c.(142-144)tCa>tAa	p.S48*	RPS13_ENST00000228140.2_Nonsense_Mutation_p.S48*|RPS13_ENST00000526895.1_5'UTR			P62277	RS13_HUMAN	ribosomal protein S13	48					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						ACCGATCTGTGAAGGAGTAAG	0.428000													18	86					2.37509e-13	2.65741e-13	1	1	0
GATA3	2625	broad.mit.edu	37	10	8115824	8115824	+	Silent	SNP	G	G	C	rs150229374	byFrequency	TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:8115824G>C	ENST00000379328.3	+	6	1741	c.1173G>C	c.(1171-1173)tcG>tcC	p.S391S	GATA3_ENST00000346208.3_Silent_p.S390S|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	390					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.S391S(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGAACAGCTCGTTTAACCCGG	0.547000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						10	160					0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104171814	104171814	+	Silent	SNP	G	G	A			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr12:104171814G>A	ENST00000392876.3	-	14	1480	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	480							hydrolase activity|metal ion binding	p.F480L(1)|p.F405L(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GGTCTGTGCGGAACAGGCTTC	0.478000													13	37					0	0	1	0	0
SHARPIN	81858	broad.mit.edu	37	8	145154703	145154703	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr8:145154703C>T	ENST00000398712.2	-	4	998	c.562G>A	c.(562-564)Gag>Aag	p.E188K	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	188	Interaction with SHANK1 (By similarity).				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCCCTTCTCGTCTCCACCT	0.632000													12	45					0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64822077	64822077	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr11:64822077C>T	ENST00000358658.3	-	5	764	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	NAALADL1_ENST00000356632.3_Missense_Mutation_p.R246Q|NAALADL1_ENST00000355369.2_Missense_Mutation_p.R246Q|NAALADL1_ENST00000340252.4_Missense_Mutation_p.R246Q|NAALADL1_ENST00000355721.3_Missense_Mutation_p.R205Q|NAALADL1_ENST00000339885.2_Missense_Mutation_p.R246Q	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	246					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.R246Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GTAGGAGCCTCGCTCCACTCC	0.597000											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	9	11					0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123526972	123526972	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr9:123526972C>G	ENST00000608872.1	-	8	1417	c.1230G>C	c.(1228-1230)aaG>aaC	p.K410N	FBXW2_ENST00000493559.1_Intron|FBXW2_ENST00000340778.5_Missense_Mutation_p.K345N	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2						proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TTGAGCCTCTCTTTGATTTCC	0.547000													29	79					0	0	1	0	0
SIAH2	6478	broad.mit.edu	37	3	150480449	150480451	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr3:150480449_150480451delCCG	ENST00000312960.3	-	1	713_715	c.186_188delCGG	c.(184-189)ggcggg>ggg	p.62_63GG>G	SIAH2_ENST00000472885.1_Intron	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	62					apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			cgggccggccccgccgccgccgc	0.764													2	4	---	---	---	---					
CASP8AP2	9994	broad.mit.edu	37	6	90556398	90556398	+	RNA	DEL	T	T	-			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr6:90556398delT	ENST00000551025.1	+	0	1492							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTAAtttccttttttttttt	0.418													2	4	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													6	2	---	---	---	---					
DLX6	1750	broad.mit.edu	37	7	96635389	96635391	+	In_Frame_Del	DEL	CAG	CAG	-	rs35478952		TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr7:96635389_96635391delCAG	ENST00000518156.2	+	1	530_532	c.100_102delCAG	c.(100-102)cagdel	p.Q44del	DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					gcagcagcaacagcagcagcagc	0.680													2	4	---	---	---	---					
KIF5B	3799	broad.mit.edu	37	10	32306165	32306165	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:32306165delA	ENST00000302418.4	-	24	3124	c.2667delT	c.(2665-2667)tctfs	p.S889fs	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	889					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGCGATCACGAGATGCATTTT	0.448			T	"""RET, ALK"""	NSCLC								26	169	---	---	---	---					
BMPR1A	657	broad.mit.edu	37	10	88659632	88659632	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr10:88659632delC	ENST00000372037.3	+	6	952	c.415delC	c.(415-417)cccfs	p.P140fs		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA						BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						ACCCACACTGCCCCCTGTTGT	0.438			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				7	44	---	---	---	---					
CES1P1	51716	broad.mit.edu	37	16	55801695	55801695	+	RNA	DEL	T	T	-			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chr16:55801695delT	ENST00000571348.1	+	0	448					NR_003276.2																						TAATGATTACTTTTAGTTACT	0.373													2	4	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44929095	44929096	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-FD-A43P-01A-31D-A23U-08	TCGA-FD-A43P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f00cf9de-0207-40f2-b044-d626625362c0	e4f5461d-4a69-4c1f-806f-ea87f8da0b59	g.chrX:44929095_44929096insGC	ENST00000377967.4	+	17	2236_2237	c.2195_2196insGC	c.(2194-2199)aggcacfs	p.H733fs	KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.H688fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.H654fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.H740fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	733					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAACAAGCAGGCACACTGGAG	0.510			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								13	12	---	---	---	---