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
EPRS	2058	broad.mit.edu	37	1	220162134	220162134	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:220162134A>T	ENST00000366923.3	-	19	2842	c.2573T>A	c.(2572-2574)cTg>cAg	p.L858Q		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	858	3 X 57 AA approximate repeats.|WHEP-TRS 2.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CTTCAGGGACAGTAAGCATTC	0.353000													15	54					0	0	0.520397	0	0
CENPF	1063	broad.mit.edu	37	1	214822055	214822055	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:214822055G>A	ENST00000366955.3	+	14	8036	c.7868G>A	c.(7867-7869)aGg>aAg	p.R2623K	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2719	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGCTGCAGAGGGAAATGCAT	0.418000													22	57					0	0	0.608945	0	0
SCN2A	6326	broad.mit.edu	37	2	166179875	166179875	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:166179875G>T	ENST00000357398.3	+	12	2171	c.1881G>T	c.(1879-1881)caG>caT	p.Q627H	SCN2A_ENST00000375427.2_Missense_Mutation_p.Q627H|SCN2A_ENST00000283256.6_Missense_Mutation_p.Q627H|SCN2A_ENST00000375437.2_Missense_Mutation_p.Q627H			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	627					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATGTCAGCCAGGCCAGCCGTG	0.597000													13	10					6.72482e-11	9.18713e-11	0.479597	1	0
POTEH	23784	broad.mit.edu	37	22	16287437	16287437	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:16287437C>A	ENST00000343518.6	-	1	500	c.449G>T	c.(448-450)gGc>gTc	p.G150V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	150								p.G150V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTTGTTCTTGCCGCTCCCCCT	0.592000													15	192					9.62636e-23	1.56463e-22	0.624587	1	0
TRBV4-2	28616	broad.mit.edu	37	7	142045766	142045766	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:142045766C>A	ENST00000390392.3	+	0	405																											TTCACCTACACACCCTGCAGC	0.507000													18	225					2.4624e-09	3.23756e-09	0.575678	1	0
ZP4	57829	broad.mit.edu	37	1	238045741	238045741	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:238045741G>T	ENST00000366570.4	-	12	1762	c.1604C>A	c.(1603-1605)cCa>cAa	p.P535Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	535					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CATTTGGTCTGGGCAACTCTT	0.443000													4	29					0.00909568	0.00952692	0.150653	1	0
GBP1P1	400759	broad.mit.edu	37	1	89890068	89890068	+	RNA	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:89890068G>A	ENST00000513638.1	+	0	809					NR_003133.2																						CATTCTCCCCGATCACAGGCT	0.483000													29	22					0	0	0.750413	0	0
DNHD1	144132	broad.mit.edu	37	11	6587839	6587839	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:6587839G>T	ENST00000254579.6	+	35	11793	c.11229G>T	c.(11227-11229)aaG>aaT	p.K3743N	DNHD1_ENST00000527990.2_Missense_Mutation_p.K3743N	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3743					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AACTGCTAAAGGGGCTGAATG	0.512000													5	15					5.9392e-07	7.31615e-07	0.217242	1	0
BTBD11	121551	broad.mit.edu	37	12	108051373	108051373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:108051373C>T	ENST00000280758.5	+	17	3721	c.3193C>T	c.(3193-3195)Cag>Tag	p.Q1065*	BTBD11_ENST00000494235.2_Nonsense_Mutation_p.Q144*|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.Q602*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.Q946*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1065						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGCATTCAAGCAGCTCCTGTA	0.483000													26	17					0	0	0.740014	0	0
ECT2	1894	broad.mit.edu	37	3	172480315	172480315	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:172480315G>C	ENST00000417960.1	+	9	1249	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	ECT2_ENST00000427830.1_Missense_Mutation_p.E259Q|ECT2_ENST00000540509.1_Missense_Mutation_p.E290Q|ECT2_ENST00000441497.2_Missense_Mutation_p.E259Q|ECT2_ENST00000232458.5_Missense_Mutation_p.E259Q|ECT2_ENST00000392692.3_Missense_Mutation_p.E290Q	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	259	BRCT 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AACCAATATGGAAGAAATGAC	0.328000													10	48					0	0	0.361761	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139116	126139116	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:126139116C>A	ENST00000299308.3	+	9	3105	c.3097C>A	c.(3097-3099)Ctc>Atc	p.L1033I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.L545I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1033						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CACCACCATCCTCCCAGAGGA	0.483000													20	41					6.33239e-15	9.37573e-15	0.592651	1	0
OR6C3	254786	broad.mit.edu	37	12	55726036	55726036	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:55726036A>G	ENST00000379667.1	+	1	552	c.552A>G	c.(550-552)ctA>ctG	p.L184L		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TCTTACAACTATCTTGTTCAG	0.393000													42	121					0	0	0.870114	0	0
BOC	91653	broad.mit.edu	37	3	112987219	112987219	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:112987219C>A	ENST00000495514.1	+	5	1154	c.450C>A	c.(448-450)tgC>tgA	p.C150*	BOC_ENST00000355385.3_Nonsense_Mutation_p.C150*|BOC_ENST00000273395.4_Nonsense_Mutation_p.C150*			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	150	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TCATTGCCTGCCACCTGCCTG	0.567000													10	21					0.00010058	0.000113414	0.411799	1	0
ZPBP	11055	broad.mit.edu	37	7	50121488	50121488	+	Silent	SNP	C	C	A	rs144577669		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:50121488C>A	ENST00000046087.2	-	3	285	c.216G>T	c.(214-216)gcG>gcT	p.A72A	ZPBP_ENST00000419417.1_Silent_p.A72A	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	72					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GCATGACATACGCTTTCACTG	0.353000													25	29					2.44723e-14	3.56985e-14	0.681144	1	0
RER1	11079	broad.mit.edu	37	1	2328561	2328561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:2328561C>T	ENST00000605895.1	+	3	221	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	RER1_ENST00000378512.1_Nonsense_Mutation_p.Q30*|RER1_ENST00000378513.3_Nonsense_Mutation_p.Q30*|RER1_ENST00000378518.1_Nonsense_Mutation_p.Q30*|RER1_ENST00000488353.1_Nonsense_Mutation_p.Q30*	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	30					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		CTAGATTTATCAGTCCTGGCT	0.493000													3	10					0	0	0.115264	0	0
PRDM11	56981	broad.mit.edu	37	11	45117410	45117410	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:45117410C>A	ENST00000263765.4	+	2	303	c.54C>A	c.(52-54)gcC>gcA	p.A18A	PRDM11_ENST00000530656.1_Silent_p.A18A			Q9NQV5	PRD11_HUMAN	PR domain containing 11	18										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						agtgccgggcctgcctgagat	0.517000													27	23					3.65163e-15	5.44501e-15	0.706142	1	0
HPCA	3208	broad.mit.edu	37	1	33354567	33354567	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:33354567C>G	ENST00000373467.3	+	2	170	c.68C>G	c.(67-69)tCa>tGa	p.S23*	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	23							actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ACAGAGTTCTCAGAGCTGGAG	0.567000													21	54					0	0	0.624587	0	0
NUB1	51667	broad.mit.edu	37	7	151046189	151046189	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:151046189G>C	ENST00000568733.1	+	3	286	c.220G>C	c.(220-222)Gaa>Caa	p.E74Q	NUB1_ENST00000566856.1_Missense_Mutation_p.E50Q|NUB1_ENST00000355851.4_Missense_Mutation_p.E50Q|NUB1_ENST00000413040.2_Missense_Mutation_p.E74Q			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	50					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TGACAGACTAGAATGCTGTGA	0.353000													11	38					0	0	0.457914	0	0
EPDR1	54749	broad.mit.edu	37	7	37989946	37989946	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:37989946G>C	ENST00000199448.4	+	3	1002	c.623G>C	c.(622-624)aGc>aCc	p.S208T	EPDR1_ENST00000559325.1_Missense_Mutation_p.S328T|EPDR1_ENST00000425345.1_Missense_Mutation_p.S147T|EPDR1_ENST00000476620.1_Missense_Mutation_p.S106T	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	208					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						ACCCCTCCAAGCACGTGCCAG	0.542000													14	21					0	0	0.479597	0	0
SPON1	10418	broad.mit.edu	37	11	13984196	13984196	+	RNA	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:13984196C>T	ENST00000310358.7	+	0	283							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AAAATCAGCCCTCCCTCCTCC	0.647000													4	0					0	0	0.184627	0	0
TTN	7273	broad.mit.edu	37	2	179469545	179469545	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:179469545C>T	ENST00000589042.1	-	281	54495	c.54271G>A	c.(54271-54273)Gat>Aat	p.D18091N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9151N|TTN_ENST00000591111.1_Missense_Mutation_p.D16450N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15523N|TTN_ENST00000342175.6_Missense_Mutation_p.D9218N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9026N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16450	Fibronectin type-III 31.						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)			CCACCATTATCAAGAGGGGCA	0.448000													11	51					0	0	0.435327	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540006	169540006	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:169540006G>A	ENST00000340806.6	+	1	297	c.297G>A	c.(295-297)ctG>ctA	p.L99L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	99										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGGAGAGCCTGGACCTGAGCT	0.587000													80	39					0	0	0.870114	0	0
TTBK2	146057	broad.mit.edu	37	15	43038398	43038398	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:43038398G>A	ENST00000267890.6	-	15	3438	c.3330C>T	c.(3328-3330)cgC>cgT	p.R1110R		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1110					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTGGGCCAGGCGGGAGAAAA	0.423000													15	3					0	0	0.479597	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003684	119003684	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:119003684C>A	ENST00000298472.5	+	3	467	c.324C>A	c.(322-324)acC>acA	p.T108T	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	108					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ACATGGTGACCAACGCGTCCG	0.517000													6	16					8.12818e-05	9.19624e-05	0.248553	1	0
CUBN	8029	broad.mit.edu	37	10	17142110	17142110	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:17142110G>A	ENST00000377833.4	-	14	1724	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	553	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTCATGAGGGAGGCTGGAGC	0.428000													12	26					0	0	0.479597	0	0
SPATC1	375686	broad.mit.edu	37	8	145101742	145101742	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:145101742T>A	ENST00000377470.3	+	5	1763	c.1661T>A	c.(1660-1662)cTg>cAg	p.L554Q	SPATC1_ENST00000447830.2_3'UTR	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	554										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGGACTTCCTGCAGCGTGTG	0.697000													4	4					0	0	0.184627	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095305	103095305	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:103095305C>A	ENST00000295269.4	+	2	721	c.264C>A	c.(262-264)caC>caA	p.H88Q		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	88					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAGGCTTCCACCTCTACCACA	0.582000													8	62					6.40141e-05	7.28676e-05	0.387290	1	0
FAM180A	389558	broad.mit.edu	37	7	135419037	135419037	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:135419037C>T	ENST00000338588.3	-	3	473	c.208G>A	c.(208-210)Gac>Aac	p.D70N	FAM180A_ENST00000415751.1_Missense_Mutation_p.D70N	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	70						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						ATCTGCAGGTCAGGGCTGATC	0.527000													8	65					0	0	0.307466	0	0
DPP6	1804	broad.mit.edu	37	7	154237654	154237654	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:154237654G>A	ENST00000404039.1	+	4	890	c.303G>A	c.(301-303)gtG>gtA	p.V101V	DPP6_ENST00000427557.1_Silent_p.V103V|DPP6_ENST00000406326.1_Silent_p.V165V|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Silent_p.V165V|DPP6_ENST00000332007.3_Silent_p.V103V	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	165					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AAGGAACAGTGAGACTGTGGA	0.343000													7	39					0	0	0.307466	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481977	140481977	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:140481977C>G	ENST00000231130.2	+	1	1744	c.1744C>G	c.(1744-1746)Ccg>Gcg	p.P582A		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		582	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P582S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGGCTGAGCCGGGCTACCT	0.701000													15	7					0	0	0.706142	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475971	140475971	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:140475971G>T	ENST00000194155.4	+	1	1745	c.1597G>T	c.(1597-1599)Gtg>Ttg	p.V533L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		533	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGTTCCGCGTGGGCGCCGC	0.697000													22	13					1.99505e-19	3.13936e-19	0.760397	1	0
VPS13B	157680	broad.mit.edu	37	8	100148947	100148947	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:100148947T>G	ENST00000395996.1	+	12	1729	c.1618T>G	c.(1618-1620)Tac>Gac	p.Y540D	VPS13B_ENST00000358544.2_Missense_Mutation_p.Y540D|VPS13B_ENST00000357162.2_Missense_Mutation_p.Y540D|VPS13B_ENST00000355155.1_Missense_Mutation_p.Y540D			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	540					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTATATGGATTACCTGTATAC	0.383000													47	54					0	0	0.870114	0	0
PCLO	27445	broad.mit.edu	37	7	82579192	82579192	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:82579192G>A	ENST00000423517.2	-	6	11049	c.10712C>T	c.(10711-10713)gCa>gTa	p.A3571V	PCLO_ENST00000437081.1_Missense_Mutation_p.A291V|PCLO_ENST00000333891.8_Missense_Mutation_p.A3571V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3502					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCTGAATCTGCTTCTGTTTG	0.438000													30	61					0	0	0.769981	0	0
LOC101928851	101928851	broad.mit.edu	37	4	58292141	58292141	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:58292141C>A	ENST00000510956.1	+	0	104																											catctcaaagcagtcaggcag	0.463000													3	1					0.004672	0.00495846	0.115264	1	0
RBPJ	3516	broad.mit.edu	37	4	26432487	26432487	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:26432487G>C	ENST00000342320.4	+	11	1495	c.1319G>C	c.(1318-1320)tGc>tCc	p.C440S	RBPJ_ENST00000348160.4_Missense_Mutation_p.C441S|RBPJ_ENST00000504907.1_3'UTR|RBPJ_ENST00000355476.3_Missense_Mutation_p.C440S|RBPJ_ENST00000342295.1_Missense_Mutation_p.C454S|RBPJ_ENST00000361572.6_Missense_Mutation_p.C454S|RBPJ_ENST00000345843.3_Missense_Mutation_p.C439S|RBPJ_ENST00000507561.1_Missense_Mutation_p.C419S			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	454	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CGGCCACATTGCAGTGCAGCA	0.507000													32	81					0	0	0.788014	0	0
MYCN	4613	broad.mit.edu	37	2	16082254	16082254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:16082254C>A	ENST00000281043.3	+	2	365	c.68C>A	c.(67-69)tCg>tAg	p.S23*	MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	23					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GAGTTTGACTCGCTACAGCCC	0.637000			A		neuroblastoma								4	16					0.00909568	0.00952692	0.150653	1	0
USP42	84132	broad.mit.edu	37	7	6189873	6189873	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:6189873A>G	ENST00000306177.5	+	13	2204	c.2046A>G	c.(2044-2046)caA>caG	p.Q682Q		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	682					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CCAGCTGCCAAGGCCAGCCTG	0.557000													4	18					0	0	0.217242	0	0
IKZF2	22807	broad.mit.edu	37	2	213872288	213872288	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:213872288C>G	ENST00000457361.1	-	8	1545	c.1377G>C	c.(1375-1377)aaG>aaC	p.K459N	IKZF2_ENST00000374327.4_Missense_Mutation_p.K314N|IKZF2_ENST00000434687.1_Missense_Mutation_p.K459N|IKZF2_ENST00000342002.2_Missense_Mutation_p.K465N|IKZF2_ENST00000374319.4_Missense_Mutation_p.K433N|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Missense_Mutation_p.K385N|IKZF2_ENST00000451136.2_Missense_Mutation_p.K387N	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CATTGAAGACCTTGTAGATGT	0.473000													15	91					0	0	0.520397	0	0
DNAJC6	9829	broad.mit.edu	37	1	65874456	65874456	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:65874456A>T	ENST00000395325.3	+	17	2610	c.2453A>T	c.(2452-2454)gAg>gTg	p.E818V	DNAJC6_ENST00000371069.4_Missense_Mutation_p.E875V|DNAJC6_ENST00000263441.7_Missense_Mutation_p.E805V	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	818					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATGGATCCTGAGAAATTAAAG	0.443000													4	31					0	0	0.184627	0	0
SRPK3	26576	broad.mit.edu	37	X	153047620	153047620	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:153047620C>A	ENST00000489426.1	+	11	2999	c.633C>A	c.(631-633)gtC>gtA	p.V211V	SRPK3_ENST00000370108.3_Silent_p.V144V|SRPK3_ENST00000370100.1_Silent_p.V102V|SRPK3_ENST00000370104.1_Silent_p.V144V|SRPK3_ENST00000393786.3_Silent_p.V144V|SRPK3_ENST00000370101.3_Silent_p.V144V			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	144	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGACCATTGTCCAGCTCATTG	0.582000													6	7					0.000274275	0.000302767	0.307466	1	0
ZAN	7455	broad.mit.edu	37	7	100361492	100361492	+	RNA	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:100361492G>T	ENST00000542585.1	+	0	4198				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.S1350S(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCAGCATGTCGGGGCCAGGGT	0.577000													20	40					5.35356e-11	7.32569e-11	0.639603	1	0
NDST4	64579	broad.mit.edu	37	4	115997856	115997856	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:115997856C>A	ENST00000264363.2	-	2	1015	c.337G>T	c.(337-339)Gga>Tga	p.G113*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	113	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCTCCCTTTCCAGGGGCAATA	0.403000													17	55					3.41278e-10	4.57673e-10	0.520397	1	0
PTPRD	5789	broad.mit.edu	37	9	8484291	8484291	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:8484291A>G	ENST00000381196.4	-	27	3784	c.3241T>C	c.(3241-3243)Tat>Cat	p.Y1081H	PTPRD_ENST00000397606.3_Missense_Mutation_p.Y660H|PTPRD_ENST00000397611.3_Missense_Mutation_p.Y667H|PTPRD_ENST00000540109.1_Missense_Mutation_p.Y1081H|PTPRD_ENST00000356435.5_Missense_Mutation_p.Y1081H|PTPRD_ENST00000537002.1_Missense_Mutation_p.Y667H|PTPRD_ENST00000360074.4_Missense_Mutation_p.Y1068H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Y1059H|PTPRD_ENST00000486161.1_Missense_Mutation_p.Y670H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Y660H|PTPRD_ENST00000355233.5_Missense_Mutation_p.Y670H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1081	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACAAATGAATATGATTTCTCA	0.448000										TSP Lung(15;0.13)			4	29					0	0	0.150653	0	0
ATF6B	1388	broad.mit.edu	37	6	32084491	32084491	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:32084491G>C	ENST00000375201.4	-	16	1823	c.1778C>G	c.(1777-1779)tCt>tGt	p.S593C	ATF6B_ENST00000375203.3_Missense_Mutation_p.S596C			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	596					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CCTTCGGAAAGAGACAACATA	0.542000													22	124					0	0	0.681144	0	0
SLC12A1	6557	broad.mit.edu	37	15	48541794	48541794	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:48541794C>T	ENST00000396577.3	+	14	1922	c.1707C>T	c.(1705-1707)ccC>ccT	p.P569P	SLC12A1_ENST00000380993.3_Silent_p.P569P|SLC12A1_ENST00000558405.1_Silent_p.P569P	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	569					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCATTGCTCCCATCATCTCCA	0.438000													35	25					0	0	0.804634	0	0
OR5D18	219438	broad.mit.edu	37	11	55587546	55587546	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:55587546G>T	ENST00000333976.4	+	1	461	c.441G>T	c.(439-441)gtG>gtT	p.V147V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGCTGGTTGTGGGATCCTATG	0.463000													44	122					4.25531e-23	6.92313e-23	0.870114	1	0
MAP4	4134	broad.mit.edu	37	3	47912757	47912757	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:47912757T>A	ENST00000426837.2	-	14	6048	c.5961A>T	c.(5959-5961)aaA>aaT	p.K1987N	MAP4_ENST00000264724.11_Missense_Mutation_p.K577N|MAP4_ENST00000395734.3_Missense_Mutation_p.K842N|MAP4_ENST00000383737.4_Missense_Mutation_p.K570N|MAP4_ENST00000441748.2_5'UTR|MAP4_ENST00000360240.6_Missense_Mutation_p.K842N|MAP4_ENST00000462206.1_5'UTR|MAP4_ENST00000420772.2_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	842					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CTTCTGCAGGTTTTCCCTCAG	0.408000													29	90					0	0	0.717897	0	0
TNR	7143	broad.mit.edu	37	1	175336425	175336425	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:175336425G>T	ENST00000367674.1	-	10	2680	c.1972C>A	c.(1972-1974)Cct>Act	p.P658T	TNR_ENST00000263525.2_Missense_Mutation_p.P658T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	658	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCAGTGCCAGGTACCAGATCT	0.483000													7	45					5.18039e-06	6.15126e-06	0.278610	1	0
NAV3	89795	broad.mit.edu	37	12	78582521	78582521	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:78582521G>T	ENST00000397909.2	+	33	6192	c.6019G>T	c.(6019-6021)Gtt>Ttt	p.V2007F	NAV3_ENST00000536525.2_Missense_Mutation_p.V1985F|NAV3_ENST00000266692.7_Missense_Mutation_p.V1808F|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.V1985F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2007						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGATACCTTGTTGGAGATAA	0.398000										HNSCC(70;0.22)			10	80					2.80697e-09	3.68484e-09	0.387290	1	0
A2M	2	broad.mit.edu	37	12	9265028	9265028	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:9265028C>A	ENST00000318602.7	-	3	682	c.375G>T	c.(373-375)gaG>gaT	p.E125D		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	125					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCAGACTGTCCTCGTTCTTAA	0.443000													36	19					5.43694e-19	8.5394e-19	0.812448	1	0
HSH2D	84941	broad.mit.edu	37	19	16268408	16268408	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:16268408G>A	ENST00000593154.2	+	8	1394	c.863G>A	c.(862-864)gGt>gAt	p.G288D	HSH2D_ENST00000253680.6_Missense_Mutation_p.V288I|HSH2D_ENST00000397372.4_Missense_Mutation_p.V198I|HSH2D_ENST00000588246.1_Missense_Mutation_p.G288D	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	0						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						AGACAGAAAGGTCCCCACCAG	0.607000													6	11					0	0	0.248553	0	0
ESRRB	2103	broad.mit.edu	37	14	76905730	76905730	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:76905730T>C	ENST00000380887.2	+	2	106	c.34T>C	c.(34-36)Tgc>Cgc	p.C12R	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.C12R|ESRRB_ENST00000556177.1_Missense_Mutation_p.C12R|ESRRB_ENST00000509242.1_Missense_Mutation_p.C12R			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	12						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GGGCTCCAGCTGCGGCTCCTT	0.657000													65	44					0	0	0.870114	0	0
ATRX	546	broad.mit.edu	37	X	76889171	76889171	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:76889171C>A	ENST00000373344.5	-	18	5053	c.4839G>T	c.(4837-4839)ttG>ttT	p.L1613F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L1575F	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1613	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTTTGTCACACAAAAGAACTG	0.333000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						13	20					7.03913e-09	9.14052e-09	0.411799	1	0
GPHB5	122876	broad.mit.edu	37	14	63779701	63779701	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:63779701C>A	ENST00000539258.1	-	0	389							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CAGCGGATGGCCACGGGATAG	0.607000													10	6					4.36969e-10	5.84133e-10	0.435327	1	0
STX8	9482	broad.mit.edu	37	17	9395240	9395240	+	Splice_Site	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:9395240T>A	ENST00000306357.3	-	6	876		c.e6-2		STX8_ENST00000574431.1_Splice_Site	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8						transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						CGTCCTGTTCTGAAAGAAAAA	0.353000													11	27					0	0	0.411799	0	0
NBPF22P	285622	broad.mit.edu	37	5	85592194	85592194	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:85592194C>A	ENST00000590707.1	+	0	1493					NR_003719.2																						AGTTCAAGTCCCAACACAATA	0.408000													7	8					8.12818e-05	9.19624e-05	0.248553	1	0
LINC01410	103352539	broad.mit.edu	37	9	66466388	66466388	+	RNA	SNP	C	C	T	rs7039538		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:66466388C>T	ENST00000424345.1	+	0	1021																											ggtacgcactcggtgaatgtc	0.438000													3	7					0	0	0.115264	0	0
C16orf92	146378	broad.mit.edu	37	16	30035398	30035398	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:30035398G>A	ENST00000300575.2	+	3	389	c.368G>A	c.(367-369)tGc>tAc	p.C123Y		NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	123						integral to membrane				breast(3)|lung(3)	6						TTCCAGTTCTGCACCCACATG	0.597000													3	28					0	0	0.115264	0	0
CACNA1C	775	broad.mit.edu	37	12	2721163	2721163	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:2721163T>C	ENST00000399655.1	+	29	4077	c.3812T>C	c.(3811-3813)aTt>aCt	p.I1271T	CACNA1C_ENST00000344100.3_Missense_Mutation_p.I1271T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.I1291T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.I1271T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.I1271T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.I1271T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.I1271T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.I1271T|CACNA1C_ENST00000347598.4_Missense_Mutation_p.I1291T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.I1271T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.I1271T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.I1271T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.I1271T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.I1271T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.I1271T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.I1271T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.I1271T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.I1271T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.I1271T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.I1271T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.I1271T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.I1296T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.I1271T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1291					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTGAAGCTCATTGCCTTCAAA	0.532000													97	68					0	0	0.870114	0	0
ATP5G3	518	broad.mit.edu	37	2	176043979	176043979	+	Splice_Site	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:176043979C>T	ENST00000284727.4	-	4	3145		c.e4-1		ATP5G3_ENST00000409194.1_Splice_Site|ATP5G3_ENST00000392541.3_Splice_Site	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)						ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CCGTAGAGCCCTGGAAAACAG	0.383000													14	22					0	0	0.435327	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74670725	74670725	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:74670725A>T	ENST00000541184.1	-	3	741	c.264T>A	c.(262-264)taT>taA	p.Y88*	ZDHHC15_ENST00000373361.3_Nonsense_Mutation_p.Y97*|ZDHHC15_ENST00000373367.3_Nonsense_Mutation_p.Y97*	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	97						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CTTCATTTTCATAGCGCTCCT	0.408000													26	36					0	0	0.681144	0	0
GMNC	647309	broad.mit.edu	37	3	190575661	190575661	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:190575661C>T	ENST00000442080.1	-	4	294	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	GMNC_ENST00000479491.1_5'UTR	NM_001146686.2	NP_001140158.1	A6NCL1	GEMC1_HUMAN	geminin coiled-coil domain containing	99					cell cycle|cell proliferation|DNA replication	nucleus	chromatin binding			NS(1)|endometrium(3)|skin(1)	5						GCGAGTTCTTCTTCCTTCTGC	0.418000													3	6					0	0	0.115264	0	0
FNDC4	64838	broad.mit.edu	37	2	27716859	27716859	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:27716859G>C	ENST00000264703.3	-	4	783	c.392C>G	c.(391-393)cCc>cGc	p.P131R		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	131	Fibronectin type-III.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GTGCACCCGGGGCCCTGGGGG	0.607000													7	24					0	0	0.307466	0	0
C6orf118	168090	broad.mit.edu	37	6	165715741	165715741	+	Translation_Start_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:165715741G>T	ENST00000543069.1	-	0	339				C6orf118_ENST00000230301.8_Missense_Mutation_p.L24M			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118									p.L24L(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGATTACACAGGGTCTTCACG	0.512000													9	36					2.17888e-05	2.53875e-05	0.335167	1	0
PTPRD	5789	broad.mit.edu	37	9	8517911	8517911	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:8517911C>A	ENST00000381196.4	-	18	2023	c.1480G>T	c.(1480-1482)Gct>Tct	p.A494S	PTPRD_ENST00000397606.3_Missense_Mutation_p.A484S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A491S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A494S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A494S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A491S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A481S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A481S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A494S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A484S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A494S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	494	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGGTAAAAGCCAGGACTTTG	0.443000										TSP Lung(15;0.13)			11	70					0.105934	0.108918	0.435327	1	0
FUT9	10690	broad.mit.edu	37	6	96651080	96651080	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:96651080A>G	ENST00000302103.5	+	3	375	c.49A>G	c.(49-51)Att>Gtt	p.I17V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	17					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATTGTCTGCATTATCCTGGG	0.423000													15	36					0	0	0.500413	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279642	47279642	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:47279642G>T	ENST00000271153.4	+	6	715	c.679G>T	c.(679-681)Gtg>Ttg	p.V227L	CYP4B1_ENST00000371919.4_Missense_Mutation_p.V213L|CYP4B1_ENST00000371923.4_Missense_Mutation_p.V228L|CYP4B1_ENST00000452782.2_Missense_Mutation_p.V65L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	227					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GCAGCGCCTTGTGTCCTTCCA	0.582000													36	79					8.69298e-16	1.30901e-15	0.827153	1	0
ATP1B4	23439	broad.mit.edu	37	X	119500389	119500389	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:119500389G>A	ENST00000218008.3	+	2	130	c.73G>A	c.(73-75)Gat>Aat	p.D25N	ATP1B4_ENST00000361319.3_Missense_Mutation_p.D25N|ATP1B4_ENST00000539306.1_Missense_Mutation_p.D25N	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	25					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GGATGATCCGGATGAAGCGAA	0.453000													45	69					0	0	0.870114	0	0
MYO18B	84700	broad.mit.edu	37	22	26219563	26219563	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:26219563C>A	ENST00000335473.7	+	13	2863	c.2613C>A	c.(2611-2613)ttC>ttA	p.F871L	MYO18B_ENST00000407587.2_Missense_Mutation_p.F871L|MYO18B_ENST00000536101.1_Missense_Mutation_p.F871L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	871	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGCCACCTTCAAGCACCACC	0.577000													28	51					1.74807e-11	2.42563e-11	0.750413	1	0
SOS1	6654	broad.mit.edu	37	2	39222289	39222289	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:39222289G>A	ENST00000426016.1	-	21	3407	c.3321C>T	c.(3319-3321)tcC>tcT	p.S1107S	SOS1_ENST00000395038.2_Silent_p.S1107S|SOS1_ENST00000402219.2_Silent_p.S1107S			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1107					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCGAATGATCGGAATCAAATA	0.408000									Noonan syndrome				24	12					0	0	0.693898	0	0
CCNB3	85417	broad.mit.edu	37	X	50052405	50052405	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:50052405G>T	ENST00000376042.1	+	6	1534	c.1236G>T	c.(1234-1236)tcG>tcT	p.S412S	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.S412S|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	412					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GAGAGAAGTCGCTCATTATGA	0.468000													24	45					2.12542e-12	3.01145e-12	0.706142	1	0
RP1L1	94137	broad.mit.edu	37	8	10465673	10465673	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:10465673C>A	ENST00000382483.3	-	4	6158	c.5935G>T	c.(5935-5937)Gcc>Tcc	p.A1979S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1979					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACCTCCAGGGCCTCTACATCT	0.607000													44	108					3.05275e-18	4.76353e-18	0.864702	1	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036186	60036186	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:60036186G>T	ENST00000586569.1	+	9	1074	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	346					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GATGCCCACAGAAGATGAATA	0.537000													36	17					1.36161e-19	2.14864e-19	0.796494	1	0
TMC5	79838	broad.mit.edu	37	16	19477481	19477481	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:19477481C>T	ENST00000396229.2	+	9	2312	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	TMC5_ENST00000219821.5_Silent_p.S275S|TMC5_ENST00000564959.1_Silent_p.S204S|TMC5_ENST00000561503.1_Silent_p.S162S|TMC5_ENST00000542583.2_Silent_p.S521S|TMC5_ENST00000541464.1_Silent_p.S521S|TMC5_ENST00000381414.4_Silent_p.S521S	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	521						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCGGGGCATCCTACAACATGC	0.463000													12	18					0	0	0.457914	0	0
OVCH2	341277	broad.mit.edu	37	11	7722903	7722903	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:7722903C>A	ENST00000454689.1	-	0	678				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TCAGGAAAACCTGTGCAAAGA	0.517000													5	19					0.000602214	0.000658709	0.184627	1	0
CCL1	6346	broad.mit.edu	37	17	32688818	32688818	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:32688818G>A	ENST00000225842.3	-	2	243	c.174C>T	c.(172-174)tcC>tcT	p.S58S		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	58					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		AGCCCTCATTGGAGCAGATGG	0.478000											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	351					0	0	0.870114	0	0
OR13C9	286362	broad.mit.edu	37	9	107380116	107380116	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:107380116C>A	ENST00000259362.1	-	1	369	c.370G>T	c.(370-372)Gtg>Ttg	p.V124L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CAGATAGCCACATAGCGGTCA	0.517000													63	43					1.17253e-29	1.9746e-29	0.870114	1	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30314568	30314568	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:30314568A>G	ENST00000513556.1	+	10	1229	c.1229A>G	c.(1228-1230)cAg>cGg	p.Q410R	RPP21_ENST00000436442.2_3'UTR|RPP21_ENST00000433076.2_Missense_Mutation_p.Q157R|RPP21_ENST00000442966.2_Missense_Mutation_p.Q149R|RPP21_ENST00000428040.2_Missense_Mutation_p.Q172R	NM_001199119.1	NP_001186048.1	A6ZJ12	A6ZJ12_HUMAN		410						intracellular	zinc ion binding										ATGCAGACTCAGGGTTCCAGT	0.428000													5	405					0	0	0.184627	0	0
COIL	8161	broad.mit.edu	37	17	55027749	55027749	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:55027749G>C	ENST00000240316.4	-	2	888	c.854C>G	c.(853-855)tCt>tGt	p.S285C		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	285						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTTTTGGTAGAGGGTTCTTC	0.438000													21	106					0	0	0.639603	0	0
NEK10	152110	broad.mit.edu	37	3	27161262	27161262	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:27161262T>A	ENST00000429845.2	-	36	3712	c.3350A>T	c.(3349-3351)aAt>aTt	p.N1117I	NEK10_ENST00000383771.4_Missense_Mutation_p.N419I|NEK10_ENST00000383770.3_Missense_Mutation_p.N372I|NEK10_ENST00000295720.6_Missense_Mutation_p.N429I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	1117							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTAGGGTCATTTGGGGACAG	0.398000													14	16					0	0	0.520397	0	0
TCAIM	285343	broad.mit.edu	37	3	44441874	44441874	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:44441874G>C	ENST00000342649.4	+	9	1340	c.913G>C	c.(913-915)Gac>Cac	p.D305H	TCAIM_ENST00000417237.1_Missense_Mutation_p.D305H	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		AAGTTATTTTGACCTTCAGAG	0.294000													7	28					0	0	0.248553	0	0
BPIFA3	128861	broad.mit.edu	37	20	31814281	31814281	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:31814281C>A	ENST00000375454.3	+	5	816	c.606C>A	c.(604-606)caC>caA	p.H202Q	BPIFA3_ENST00000375452.3_Missense_Mutation_p.H166Q|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	202						extracellular region	lipid binding										TTCTCCCACACATGGTAGAAA	0.413000													5	27					0.000602214	0.000658709	0.184627	1	0
OR52A1	23538	broad.mit.edu	37	11	5173040	5173040	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:5173040A>G	ENST00000380367.1	-	2	977	c.560T>C	c.(559-561)aTt>aCt	p.I187T	OR52A1_ENST00000328942.1_Missense_Mutation_p.I187T			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	187					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGTTTCACAATGGCCATATG	0.433000													16	28					0	0	0.479597	0	0
DNAH11	8701	broad.mit.edu	37	7	21932151	21932151	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:21932151C>A	ENST00000328843.6	+	78	12668	c.12637C>A	c.(12637-12639)Ctg>Atg	p.L4213M	DNAH11_ENST00000409508.3_Missense_Mutation_p.L4206M			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4213					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGCCCGGCACTGTATGGCCT	0.512000									Kartagener syndrome				40	97					1.49673e-21	2.4048e-21	0.819951	1	0
NLRP5	126206	broad.mit.edu	37	19	56539859	56539859	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:56539859C>A	ENST00000390649.3	+	7	2260	c.2260C>A	c.(2260-2262)Cct>Act	p.P754T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	754						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGGCATGTCCTGTGGTCCC	0.522000													37	79					6.04917e-29	1.01363e-28	0.827153	1	0
ACRC	93953	broad.mit.edu	37	X	70832327	70832327	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:70832327C>A	ENST00000373695.1	+	11	2410	c.1873C>A	c.(1873-1875)Ccg>Acg	p.P625T	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.P625T			Q96QF7	ACRC_HUMAN	acidic repeat containing	625						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CAGGATACACCCGGAGCTGCC	0.468000													12	12					3.27435e-08	4.19347e-08	0.457914	1	0
DDX5	1655	broad.mit.edu	37	17	62500433	62500433	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:62500433C>G	ENST00000225792.5	-	3	615	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	DDX5_ENST00000578804.1_Missense_Mutation_p.E72Q|DDX5_ENST00000450599.2_Missense_Mutation_p.E72Q	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	72					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GTTTCCACCTCTTGCTGCAAA	0.368000			T	ETV4	prostate								4	79					0	0	0.217242	0	0
NR1H4	9971	broad.mit.edu	37	12	100897224	100897224	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:100897224G>T	ENST00000188403.7	+	1	87	c.59G>T	c.(58-60)tGt>tTt	p.C20F	NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000546380.1_Intron|NR1H4_ENST00000392986.3_Intron|NR1H4_ENST00000551379.1_Missense_Mutation_p.C20F|NR1H4_ENST00000548884.1_Intron	NM_001206992.1|NM_001206993.1	NP_001193921.1|NP_001193922.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	20					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						CACTGCAGCTGTACGCCGTCA	0.448000													7	44					0.00198382	0.00212561	0.248553	1	0
SLX4IP	128710	broad.mit.edu	37	20	10603340	10603340	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:10603340G>C	ENST00000334534.5	+	8	720	c.540G>C	c.(538-540)acG>acC	p.T180T		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		GCAGTGTCACGAGCAAATCGC	0.433000													24	30					0	0	0.654019	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661369	176661369	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:176661369C>A	ENST00000367662.3	+	6	3703	c.2539C>A	c.(2539-2541)Ccc>Acc	p.P847T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	847					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCCCCATCCCCATTCCACC	0.512000													78	270					4.8811e-34	8.36262e-34	0.870114	1	0
VPS13B	157680	broad.mit.edu	37	8	100523447	100523447	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:100523447G>C	ENST00000358544.2	+	29	4526	c.4415G>C	c.(4414-4416)aGa>aCa	p.R1472T	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1447T|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1472					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATGAGCGAAGAAGTTTTCAT	0.368000													9	42					0	0	0.335167	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118220564	118220564	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:118220564C>A	ENST00000369230.3	+	6	798	c.652C>A	c.(652-654)Cat>Aat	p.H218N		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	218					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TGACGTTATTCATACAAATGC	0.443000													11	18					7.03913e-09	9.14052e-09	0.411799	1	0
TRIM51	84767	broad.mit.edu	37	11	55653042	55653042	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:55653042G>A	ENST00000449290.2	+	2	230	c.138G>A	c.(136-138)acG>acA	p.T46T		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	46						intracellular	zinc ion binding										GGCAAGACACGGCAGTTCTTG	0.493000													16	13					0	0	0.520397	0	0
MCF2L2	23101	broad.mit.edu	37	3	182948805	182948805	+	Splice_Site	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:182948805C>A	ENST00000328913.3	-	16	2160	c.1862_splice	c.e16-1	p.R621_splice	MCF2L2_ENST00000447025.2_Splice_Site_p.R621_splice|MCF2L2_ENST00000473233.1_Splice_Site_p.R621_splice	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	621	DH.				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)			GTATAATGCGCCTGAATCACA	0.398000													12	57					7.93312e-07	9.70117e-07	0.457914	1	0
OR8I2	120586	broad.mit.edu	37	11	55861616	55861616	+	Missense_Mutation	SNP	C	C	T	rs140206966	byFrequency	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:55861616C>T	ENST00000302124.2	+	1	864	c.833C>T	c.(832-834)aCg>aTg	p.T278M	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T278M(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTATTCTATACGATTGTCATT	0.408000													7	36					0	0	0.307466	0	0
POU4F1	5457	broad.mit.edu	37	13	79175840	79175840	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:79175840C>A	ENST00000377208.5	-	2	1181	c.970G>T	c.(970-972)Gcg>Tcg	p.A324S	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000444769.3_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	324	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GGCTTGAGCGCGATCATGTTG	0.637000													5	1					9.70103e-10	1.29065e-09	0.361761	1	0
LOC102723335	102723335	broad.mit.edu	37	15	101098901	101098901	+	RNA	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:101098901G>T	ENST00000559349.1	+	0	20				RP11-526I2.1_ENST00000557839.1_RNA																							CCTGCCAGGCGGATGACATCA	0.602000													11	15					7.03913e-09	9.14052e-09	0.411799	1	0
SMARCD1	6602	broad.mit.edu	37	12	50480065	50480065	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:50480065G>T	ENST00000394963.4	+	2	697	c.299G>T	c.(298-300)cGc>cTc	p.R100L	SMARCD1_ENST00000381513.4_Missense_Mutation_p.R100L	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	100	Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GATCAGTCCCGCAAGAGACCT	0.617000													4	16					0.00909568	0.00952692	0.150653	1	0
SLC18A2	6571	broad.mit.edu	37	10	119003683	119003683	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:119003683C>A	ENST00000298472.5	+	3	466	c.323C>A	c.(322-324)aCc>aAc	p.T108N	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	108					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CACATGGTGACCAACGCGTCC	0.512000													6	16					8.12818e-05	9.19624e-05	0.248553	1	0
CHRM2	1129	broad.mit.edu	37	7	136700289	136700289	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:136700289C>G	ENST00000445907.2	+	3	1205	c.677C>G	c.(676-678)gCc>gGc	p.A226G	CHRM2_ENST00000397608.3_Missense_Mutation_p.A226G|CHRM2_ENST00000320658.5_Missense_Mutation_p.A226G|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A226G|CHRM2_ENST00000453373.1_Missense_Mutation_p.A226G|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A226G	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	226					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GAGCCTGTTGCCAACCAAGAC	0.488000													9	34					0	0	0.335167	0	0
SLC9C1	285335	broad.mit.edu	37	3	111888063	111888063	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:111888063C>G	ENST00000305815.5	-	24	3284	c.3032G>C	c.(3031-3033)aGa>aCa	p.R1011T	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R963T	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1011					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TAAGTGTTCTCTGATTTTTCT	0.333000													4	40					0	0	0.150653	0	0
PCMTD1	115294	broad.mit.edu	37	8	52758236	52758236	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:52758236C>A	ENST00000360540.5	-	4	801	c.395G>T	c.(394-396)aGt>aTt	p.S132I	PCMTD1_ENST00000522514.1_Missense_Mutation_p.S132I|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Intron	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	132						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AAAGCTATCACTATTTTTGAT	0.338000													5	11					3.59834e-05	4.14376e-05	0.217242	1	0
DGKI	9162	broad.mit.edu	37	7	137237296	137237296	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:137237296C>T	ENST00000453654.1	-	20	1605	c.1066G>A	c.(1066-1068)Ggc>Agc	p.G356S	DGKI_ENST00000424189.2_Missense_Mutation_p.G656S|DGKI_ENST00000446122.1_Missense_Mutation_p.G656S|DGKI_ENST00000288490.5_Missense_Mutation_p.G656S			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	656					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTCCATGGCCCCCAACTTGC	0.522000													41	86					0	0	0.870114	0	0
ADCY2	108	broad.mit.edu	37	5	7743815	7743815	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:7743815T>C	ENST00000338316.4	+	15	1995	c.1906T>C	c.(1906-1908)Ttt>Ctt	p.F636L	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.F456L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	636					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGGGGCTGCGTTTCTCTTGCT	0.488000													17	433					0	0	0.557998	0	0
SMARCC2	6601	broad.mit.edu	37	12	56580009	56580009	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:56580009C>G	ENST00000394023.3	-	3	352	c.247G>C	c.(247-249)Gat>Cat	p.D83H	SMARCC2_ENST00000347471.4_Missense_Mutation_p.D83H|SMARCC2_ENST00000267064.4_Missense_Mutation_p.D83H|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000550164.1_Missense_Mutation_p.D83H	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	83					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCTTTGAAATCTAGGAAACAT	0.378000													8	58					0	0	0.307466	0	0
KIAA1755	85449	broad.mit.edu	37	20	36846687	36846687	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:36846687T>C	ENST00000279024.4	-	12	2909	c.2638A>G	c.(2638-2640)Aaa>Gaa	p.K880E		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	880										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCGTGGGCTTTCTCCACTGTC	0.582000													10	26					0	0	0.435327	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953755	161953755	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:161953755C>G	ENST00000294794.3	-	8	2386	c.1963G>C	c.(1963-1965)Gac>Cac	p.D655H	OLFML2B_ENST00000367940.2_Missense_Mutation_p.D656H|OLFML2B_ENST00000367938.1_Missense_Mutation_p.D138H	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	655	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGCTCAGGTCCGCGGCATTG	0.587000													22	97					0	0	0.624587	0	0
TNS1	7145	broad.mit.edu	37	2	218755749	218755749	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:218755749G>A	ENST00000171887.4	-	10	879	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	TNS1_ENST00000430930.1_Missense_Mutation_p.R143W|TNS1_ENST00000419504.1_Missense_Mutation_p.R143W|TNS1_ENST00000310858.6_Missense_Mutation_p.R174W	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	143	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ATTGCAAACCGGTCCAGAGCC	0.567000													8	39					0	0	0.335167	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128681	68128681	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:68128681C>T	ENST00000585558.1	+	4	946	c.558C>T	c.(556-558)atC>atT	p.I186I	KCNJ16_ENST00000283936.1_Silent_p.I151I|KCNJ16_ENST00000392671.1_Silent_p.I151I|KCNJ16_ENST00000392670.1_Silent_p.I151I|KCNJ16_ENST00000589377.1_Silent_p.I151I|KCNJ16_ENST00000586462.1_Silent_p.I190I			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	151					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TCATGGTGATCCTCCAGTCCA	0.463000													20	166					0	0	0.624587	0	0
IRF9	10379	broad.mit.edu	37	14	24629542	24629542	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:24629542G>A	ENST00000558468.1	+	12	1516	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	RNF31_ENST00000382687.3_Missense_Mutation_p.E880K|RNF31_ENST00000559275.1_Missense_Mutation_p.E880K|RNF31_ENST00000324103.6_Missense_Mutation_p.E1031K																							GACGGCCACTGAGCGCTACCT	0.597000											OREG0022619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	54					0	0	0.435327	0	0
APOBR	55911	broad.mit.edu	37	16	28508760	28508760	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:28508760G>T	ENST00000564831.1	+	2	2431	c.2398G>T	c.(2398-2400)Gca>Tca	p.A800S	APOBR_ENST00000431282.1_Missense_Mutation_p.A791S|APOBR_ENST00000328423.5_Missense_Mutation_p.A791S	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	791	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGAGGCAGCAGCAGGAGAGCA	0.582000													15	30					2.35188e-11	3.25005e-11	0.539581	1	0
ICAM3	3385	broad.mit.edu	37	19	10444650	10444650	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:10444650G>C	ENST00000589261.1	-	7	1828	c.1296C>G	c.(1294-1296)gtC>gtG	p.V432V	ICAM3_ENST00000160262.5_Silent_p.V509V			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	509	Ig-like C2-type 5.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GCTCCCTGAAGACGTACATTA	0.572000													4	14					0	0	0.217242	0	0
MAPK10	5602	broad.mit.edu	37	4	86988935	86988935	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:86988935T>A	ENST00000395169.3	-	10	1582	c.862A>T	c.(862-864)Aaa>Taa	p.K288*	MAPK10_ENST00000395157.3_Nonsense_Mutation_p.K181*|MAPK10_ENST00000359221.3_Nonsense_Mutation_p.K326*|MAPK10_ENST00000449047.2_Nonsense_Mutation_p.K181*|MAPK10_ENST00000361569.2_Nonsense_Mutation_p.K326*|MAPK10_ENST00000395160.3_Nonsense_Mutation_p.K181*|MAPK10_ENST00000395161.2_Nonsense_Mutation_p.K326*|MAPK10_ENST00000395166.1_Nonsense_Mutation_p.K288*	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	326	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding 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|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CCTTTGAGTTTATTGTGCTCG	0.488000													4	15					0	0	0.184627	0	0
NOX1	27035	broad.mit.edu	37	X	100099015	100099015	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:100099015G>T	ENST00000372966.3	-	13	1826	c.1621C>A	c.(1621-1623)Cgc>Agc	p.R541S	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.R504S|NOX1_ENST00000217885.5_Missense_Mutation_p.R492S	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	541					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CAGCATTTGCGCAGGCTCTTT	0.423000													20	27					3.99206e-14	5.81324e-14	0.557998	1	0
ARMC3	219681	broad.mit.edu	37	10	23270286	23270286	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:23270286T>A	ENST00000298032.5	+	9	1018	c.934T>A	c.(934-936)Ttt>Att	p.F312I	ARMC3_ENST00000409049.3_Missense_Mutation_p.F312I|ARMC3_ENST00000376528.4_Missense_Mutation_p.F49I|ARMC3_ENST00000409983.3_Missense_Mutation_p.F312I	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	312							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TAGAAAACTTTTTCATGAACA	0.348000													9	11					0	0	0.387290	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337245	144337245	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:144337245A>C	ENST00000370493.3	+	2	889	c.130A>C	c.(130-132)Aaa>Caa	p.K44Q		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	44										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAAAGATGAAAACGTCAGA	0.413000													88	311					0	0	0.870114	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177631	89177631	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:89177631C>T	ENST00000561129.2	+	1	677	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.L183F			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	183						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TAGCCAGAAGCTCACCGGAAT	0.562000													6	24					0	0	0.307466	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471405	146471405	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:146471405C>A	ENST00000361727.3	+	2	656	c.140C>A	c.(139-141)gCt>gAt	p.A47D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	47	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)			CCCCATGTGGCTTTCAGCAGC	0.428000										HNSCC(39;0.1)			19	36					2.32416e-17	3.59655e-17	0.624587	1	0
UTP14A	10813	broad.mit.edu	37	X	129055435	129055435	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:129055435G>T	ENST00000394422.3	+	11	1248	c.1220G>T	c.(1219-1221)aGt>aTt	p.S407I	UTP14A_ENST00000371051.5_Missense_Mutation_p.S353I|UTP14A_ENST00000498179.1_3'UTR|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.S355I|UTP14A_ENST00000371042.3_Missense_Mutation_p.S239I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	407					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GTTTCTGAAAGTGAGGGAGAA	0.507000													28	39					2.2171e-23	3.6176e-23	0.740014	1	0
OR5R1	219479	broad.mit.edu	37	11	56185018	56185018	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:56185018T>A	ENST00000312253.1	-	1	690	c.691A>T	c.(691-693)Act>Tct	p.T231S		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TGCCCCTGAGTAGAGCGGATC	0.448000													44	34					0	0	0.870114	0	0
OR2A14	135941	broad.mit.edu	37	7	143826372	143826372	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:143826372C>A	ENST00000408899.2	+	1	222	c.167C>A	c.(166-168)aCa>aAa	p.T56K		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AAGCTTCACACACCCATGTAC	0.478000													36	99					1.06647e-15	1.60449e-15	0.788014	1	0
CREB5	9586	broad.mit.edu	37	7	28610045	28610045	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:28610045C>A	ENST00000357727.2	+	5	744	c.354C>A	c.(352-354)agC>agA	p.S118R	CREB5_ENST00000396300.2_Missense_Mutation_p.S111R|CREB5_ENST00000409603.1_Missense_Mutation_p.S85R|CREB5_ENST00000396299.2_Missense_Mutation_p.S85R	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	118					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACCAGCTTAGCAGCGCTCGGC	0.577000													15	28					2.39187e-15	3.5761e-15	0.575678	1	0
ATG4D	84971	broad.mit.edu	37	19	10659647	10659647	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:10659647C>T	ENST00000309469.4	+	6	1076	c.903C>T	c.(901-903)gtC>gtT	p.V301V	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	301					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)			AGTCTGTGGTCATCCTGGTGC	0.622000													8	20					0	0	0.307466	0	0
AGBL1	123624	broad.mit.edu	37	15	87089366	87089366	+	Splice_Site	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:87089366T>A	ENST00000441037.2	+	19	2774		c.e19+2		AGBL1_ENST00000421325.2_Splice_Site|AGBL1_ENST00000389298.3_Splice_Site	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1						C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AACTACAGGGTAAGCCGCTGT	0.418000													9	33					0	0	0.435327	0	0
POF1B	79983	broad.mit.edu	37	X	84586017	84586017	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:84586017C>A	ENST00000262753.4	-	7	937	c.792G>T	c.(790-792)ctG>ctT	p.L264L	POF1B_ENST00000373145.3_Silent_p.L264L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	264							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TCTTACGGCTCAGATCAGCAA	0.383000													26	53					1.26454e-06	1.54188e-06	0.693898	1	0
TRBV28	28559	broad.mit.edu	37	7	142428827	142428827	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:142428827C>A	ENST00000390400.2	+	0	207																											TCTGGGGCTACGGCTGATCTA	0.433000													9	44					5.16669e-11	7.08152e-11	0.387290	1	0
GLRA2	2742	broad.mit.edu	37	X	14599492	14599492	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:14599492G>T	ENST00000218075.4	+	4	988	c.458G>T	c.(457-459)cGg>cTg	p.R153L	GLRA2_ENST00000443437.2_Missense_Mutation_p.R64L|GLRA2_ENST00000355020.4_Missense_Mutation_p.R153L	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	153					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AAATTGCTACGGATTTCGAAA	0.458000													38	56					6.2361e-21	9.97183e-21	0.834066	1	0
APAF1	317	broad.mit.edu	37	12	99106159	99106159	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:99106159C>T	ENST00000357310.1	+	20	3352	c.2775C>T	c.(2773-2775)tgC>tgT	p.C925C	APAF1_ENST00000549007.1_Silent_p.C925C|APAF1_ENST00000551964.1_Silent_p.C968C|APAF1_ENST00000359972.2_Silent_p.C914C|APAF1_ENST00000550527.1_Silent_p.C957C|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Silent_p.C925C|APAF1_ENST00000547045.1_Silent_p.C925C|APAF1_ENST00000333991.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	968					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GCTGCTGTTGCTTAAGTCCAC	0.363000													28	44					0	0	0.706142	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232619670	232619670	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:232619670C>A	ENST00000366630.1	-	5	2207	c.1849G>T	c.(1849-1851)Ggc>Tgc	p.G617C	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G617C			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	617	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTGCTCTGGCCTGCTTTGCAA	0.453000													22	81					1.64293e-13	2.3678e-13	0.654019	1	0
MCOLN3	55283	broad.mit.edu	37	1	85506817	85506817	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:85506817T>A	ENST00000370587.1	-	4	648	c.272A>T	c.(271-273)aAg>aTg	p.K91M	MCOLN3_ENST00000370589.2_Missense_Mutation_p.K91M|MCOLN3_ENST00000341115.4_Intron|WDR63_ENST00000370596.1_Intron			Q8TDD5	MCLN3_HUMAN	mucolipin 3	91						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATTCTCTTCCTTGAAAGCTAC	0.383000													15	28					0	0	0.520397	0	0
CEP290	80184	broad.mit.edu	37	12	88486561	88486561	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:88486561C>A	ENST00000552810.1	-	29	3701	c.3358G>T	c.(3358-3360)Gat>Tat	p.D1120Y	CEP290_ENST00000397838.3_Missense_Mutation_p.D180Y|CEP290_ENST00000547691.2_Missense_Mutation_p.D180Y|CEP290_ENST00000309041.7_Missense_Mutation_p.D1122Y	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1120					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GCTAATTCATCTCTTAACATC	0.358000													23	75					2.41591e-17	3.7351e-17	0.681144	1	0
GAA	2548	broad.mit.edu	37	17	78078651	78078651	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:78078651G>C	ENST00000302262.3	+	2	485	c.266G>C	c.(265-267)cGc>cCc	p.R89P	GAA_ENST00000390015.3_Missense_Mutation_p.R89P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	89	P-type.				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCCAACAGCCGCTTCGATTGC	0.687000													6	0					0	0	0.217242	0	0
CYP7B1	9420	broad.mit.edu	37	8	65509357	65509357	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:65509357C>A	ENST00000310193.3	-	6	1536	c.1363G>T	c.(1363-1365)Gca>Tca	p.A455S	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	455					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCCATAAGTGCAAAAAATCGG	0.353000													10	22					1.58986e-06	1.92596e-06	0.361761	1	0
AKR1B10	57016	broad.mit.edu	37	7	134212696	134212696	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:134212696C>A	ENST00000359579.4	+	1	353	c.33C>A	c.(31-33)gcC>gcA	p.A11A	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	11					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GTACCAAAGCCAAGATGCCCA	0.493000													12	29					0.38729	0.389844	0.387290	1	0
ITGAX	3687	broad.mit.edu	37	16	31374272	31374272	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:31374272G>T	ENST00000268296.4	+	13	1497	c.1376G>T	c.(1375-1377)gGg>gTg	p.G459V	ITGAX_ENST00000562522.1_Missense_Mutation_p.G459V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	459					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCCTACTTCGGGGCCTCCCTC	0.677000													9	26					1.3612e-06	1.65493e-06	0.479597	1	0
SLITRK4	139065	broad.mit.edu	37	X	142716771	142716771	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:142716771T>A	ENST00000381779.4	-	2	2379	c.2154A>T	c.(2152-2154)aaA>aaT	p.K718N	SLITRK4_ENST00000338017.4_Missense_Mutation_p.K718N|SLITRK4_ENST00000356928.1_Missense_Mutation_p.K718N	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	718						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCATAACAACTTTCTGTCCTG	0.408000													15	56					0	0	0.479597	0	0
PDYN	5173	broad.mit.edu	37	20	1961359	1961359	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:1961359G>A	ENST00000217305.2	-	4	600	c.375C>T	c.(373-375)agC>agT	p.S125S	PDYN_ENST00000540134.1_Silent_p.S125S|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Silent_p.S125S	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	125					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTCCTCCAGGCTCTTGCTCA	0.542000													32	96					0	0	0.740014	0	0
FAM47B	170062	broad.mit.edu	37	X	34961919	34961919	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:34961919C>A	ENST00000329357.5	+	1	1007	c.971C>A	c.(970-972)cCc>cAc	p.P324H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	324	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCGGAGCCTCCCGAGGCTGGA	0.587000													30	29					3.09479e-21	4.96289e-21	0.827153	1	0
KIF27	55582	broad.mit.edu	37	9	86518256	86518256	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:86518256T>A	ENST00000297814.2	-	4	1320	c.1177A>T	c.(1177-1179)Agg>Tgg	p.R393W	KIF27_ENST00000334204.2_Missense_Mutation_p.R393W|KIF27_ENST00000413982.1_Missense_Mutation_p.R393W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	393					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GAATGAATCCTATTTGTATCA	0.448000													13	73					0	0	0.520397	0	0
DMD	1756	broad.mit.edu	37	X	33146313	33146313	+	Translation_Start_Site	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:33146313T>A	ENST00000378677.2	-	0	164				DMD_ENST00000288447.4_Intron|DMD_ENST00000357033.4_Intron	NM_004009.3|NM_004010.3|NM_004011.3|NM_004012.3|NM_004014.2	NP_004000.1|NP_004001.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTACACACCTTCATAGGAAA	0.423000													10	9					0	0	0.361761	0	0
ZNF676	163223	broad.mit.edu	37	19	22363351	22363351	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:22363351C>G	ENST00000397121.2	-	3	1485	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAGGGCTTCTCTTCAGCATGA	0.408000													9	33					0	0	0.307466	0	0
KRT8	3856	broad.mit.edu	37	12	53293563	53293563	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:53293563C>A	ENST00000552551.1	-	6	1409	c.977G>T	c.(976-978)gGc>gTc	p.G326V	KRT8_ENST00000552150.1_Missense_Mutation_p.G354V|KRT8_ENST00000293308.6_Missense_Mutation_p.G326V|KRT8_ENST00000546897.1_Missense_Mutation_p.G326V			P05787	K2C8_HUMAN	keratin 8	326	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCATACCTGGCCTTTGAGGCC	0.587000													8	8					3.09899e-07	3.85708e-07	0.307466	1	0
KIAA1432	57589	broad.mit.edu	37	9	5656667	5656667	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:5656667G>T	ENST00000414202.2	+	2	420	c.229G>T	c.(229-231)Gat>Tat	p.D77Y	KIAA1432_ENST00000381532.2_5'UTR|KIAA1432_ENST00000449720.2_5'UTR|KIAA1432_ENST00000251879.6_Missense_Mutation_p.D77Y|KIAA1432_ENST00000418622.3_5'UTR	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	77						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATGGAGGCCAGATAGTACCAT	0.353000													37	93					1.15505e-17	1.79401e-17	0.847076	1	0
OR1L1	26737	broad.mit.edu	37	9	125424391	125424391	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:125424391A>G	ENST00000373686.1	+	1	547	c.547A>G	c.(547-549)Atc>Gtc	p.I183V				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CTTCCACTACATCACCATTAT	0.463000													20	205					0	0	0.654019	0	0
TNKS	8658	broad.mit.edu	37	8	9413471	9413471	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:9413471C>T	ENST00000310430.6	+	1	48	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	TNKS_ENST00000520408.1_Nonsense_Mutation_p.Q8*|TNKS_ENST00000522110.1_Nonsense_Mutation_p.Q8*|RP11-375N15.2_ENST00000607598.1_RNA	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	8					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GCGTCGCTCTCAGCATCATCA	0.692000													4	12					0	0	0.278610	0	0
NEB	4703	broad.mit.edu	37	2	152507102	152507102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:152507102C>A	ENST00000397345.3	-	53	7415	c.7213G>T	c.(7213-7215)Gaa>Taa	p.E2405*	NEB_ENST00000172853.10_Nonsense_Mutation_p.E2405*|NEB_ENST00000409198.1_Nonsense_Mutation_p.E2405*|NEB_ENST00000603639.1_Nonsense_Mutation_p.E2405*|NEB_ENST00000427231.2_Nonsense_Mutation_p.E2405*|NEB_ENST00000604864.1_Nonsense_Mutation_p.E2405*	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2405					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTTGCAGTTCATAAACTTTC	0.363000													20	43					4.96729e-08	6.33263e-08	0.575678	1	0
TTN	7273	broad.mit.edu	37	2	179437781	179437781	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:179437781C>G	ENST00000589042.1	-	326	73302	c.73078G>C	c.(73078-73080)Gtt>Ctt	p.V24360L	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V15420L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V22719L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V21792L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V15487L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V15295L|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22719	Fibronectin type-III 77.						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)			GCAATCTCAACCATATACCCA	0.458000													3	25					0	0	0.115264	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449479	89449479	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:89449479A>G	ENST00000399794.2	-	3	746	c.31T>C	c.(31-33)Ttc>Ctc	p.F11L	CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.F11L|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	11	RRM.						nucleotide binding|RNA binding										CCACCAATGAAGAGCTTTCCT	0.463000											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	89					0	0	0.307466	0	0
MAPK3	5595	broad.mit.edu	37	16	30129042	30129042	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:30129042G>T	ENST00000484663.1	-	4	1515	c.382C>A	c.(382-384)Cgg>Agg	p.R128R	MAPK3_ENST00000395200.1_Silent_p.R174R|MAPK3_ENST00000395202.1_Silent_p.R242R|MAPK3_ENST00000322266.5_Silent_p.R242R|MAPK3_ENST00000403394.1_Silent_p.R242R|MAPK3_ENST00000395199.3_Silent_p.R242R|MAPK3_ENST00000263025.4_Silent_p.R242R			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	242	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding 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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	AAGATGGGCCGGTTAGAGAGC	0.587000													25	44					1.55469e-16	2.37735e-16	0.654019	1	0
OR14I1	401994	broad.mit.edu	37	1	248844738	248844738	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:248844738G>T	ENST00000342623.3	-	1	891	c.868C>A	c.(868-870)Ctt>Att	p.L290I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TTATTCCTAAGACTATATATG	0.388000													7	29					0.0381472	0.039294	0.278610	1	0
FSTL5	56884	broad.mit.edu	37	4	163032428	163032428	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:163032428G>A	ENST00000306100.5	-	2	557	c.121C>T	c.(121-123)Cat>Tat	p.H41Y	FSTL5_ENST00000427802.2_Missense_Mutation_p.H41Y|FSTL5_ENST00000379164.4_Missense_Mutation_p.H41Y|FSTL5_ENST00000536695.1_Missense_Mutation_p.H41Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	41						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGTACCTTATGTCGCAATCTC	0.388000													18	44					0	0	0.608945	0	0
HCN1	348980	broad.mit.edu	37	5	45262060	45262060	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:45262060G>C	ENST00000303230.4	-	8	2693	c.2636C>G	c.(2635-2637)cCa>cGa	p.P879R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	879						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTCTGCGTCTGGGTCTGTGTT	0.488000													70	20					0	0	0.870114	0	0
CUBNP3	100421634	broad.mit.edu	37	10	45644185	45644185	+	RNA	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:45644185G>T	ENST00000427229.2	+	0	356																											ACTCCTGAAGGAAACTTTACT	0.398000													4	34					0.000602214	0.000658709	0.184627	1	0
TUBB3	10381	broad.mit.edu	37	16	90001393	90001393	+	Silent	SNP	G	G	T	rs143029958	byFrequency	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:90001393G>T	ENST00000304984.5	+	3	2613	c.318G>T	c.(316-318)acG>acT	p.T106T	TUBB3_ENST00000556922.1_Silent_p.T525T|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Silent_p.T106T|TUBB3_ENST00000315491.7_Silent_p.T178T			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	178					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.T178T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		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)		TGTCAGACACGGTGGTGGAGC	0.597000													26	16					4.22769e-11	5.81351e-11	0.706142	1	0
ABCA1	19	broad.mit.edu	37	9	107599711	107599711	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:107599711C>T	ENST00000374736.3	-	10	1586	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	398					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGCTTACCTCAGCCATGACC	0.542000													9	14					0	0	0.435327	0	0
LRRN3	54674	broad.mit.edu	37	7	110763980	110763980	+	Silent	SNP	C	C	A	rs142935034		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:110763980C>A	ENST00000451085.1	+	4	2198	c.1152C>A	c.(1150-1152)acC>acA	p.T384T	IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Silent_p.T384T|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Silent_p.T384T|IMMP2L_ENST00000437687.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	384	LRRCT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TGAACAAAACCAACATTCGAT	0.458000													14	59					1.05317e-09	1.39564e-09	0.457914	1	0
NLRP14	338323	broad.mit.edu	37	11	7091627	7091627	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:7091627A>T	ENST00000299481.4	+	11	3432	c.3086A>T	c.(3085-3087)gAa>gTa	p.E1029V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1029					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTAGGATATGAAGGAATTGTG	0.388000													24	18					0	0	0.654019	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766690	77766690	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:77766690C>A	ENST00000521891.2	+	10	7981	c.7533C>A	c.(7531-7533)caC>caA	p.H2511Q	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2466Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2466Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2485Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2466						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H2495Q(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGCAGGAACACCAGCACATGC	0.483000										HNSCC(33;0.089)			72	72					3.79363e-24	6.22631e-24	0.870114	1	0
SPSB1	80176	broad.mit.edu	37	1	9415995	9415995	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:9415995G>T	ENST00000328089.6	+	2	386	c.45G>T	c.(43-45)agG>agT	p.R15S	SPSB1_ENST00000357898.3_Missense_Mutation_p.R15S|SPSB1_ENST00000377399.2_Missense_Mutation_p.R15S	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	15					intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		TGGACATGAGGGACCCCACGT	0.577000													5	16					0.184627	0.186516	0.184627	1	0
KEL	3792	broad.mit.edu	37	7	142658566	142658566	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:142658566G>T	ENST00000355265.2	-	3	578	c.104C>A	c.(103-105)cCc>cAc	p.P35H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	35					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCCTTCCACGGGCAGCCTCTC	0.537000													11	6					0.000219431	0.000244964	0.457914	1	0
PTPRB	5787	broad.mit.edu	37	12	70970307	70970307	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:70970307G>C	ENST00000334414.6	-	11	2741	c.2697C>G	c.(2695-2697)gaC>gaG	p.D899E	PTPRB_ENST00000550358.1_Intron|PTPRB_ENST00000538708.1_Missense_Mutation_p.D681E|PTPRB_ENST00000451516.2_Missense_Mutation_p.D591E|PTPRB_ENST00000550857.1_Missense_Mutation_p.D591E|PTPRB_ENST00000551525.1_Missense_Mutation_p.D898E|PTPRB_ENST00000261266.5_Missense_Mutation_p.D681E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	681	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCACCTTGCCGTCATGAGACA	0.522000													3	2					0	0	0.150653	0	0
DCT	1638	broad.mit.edu	37	13	95121143	95121143	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:95121143C>G	ENST00000377028.5	-	2	865	c.452G>C	c.(451-453)aGa>aCa	p.R151T	DCT_ENST00000446125.1_Missense_Mutation_p.R151T	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	151					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GGGGTGTACTCTCTTCTTCGC	0.532000													185	94					0	0	0.870114	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74808830	74808830	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:74808830A>T	ENST00000370895.1	+	11	1237	c.1202A>T	c.(1201-1203)aAg>aTg	p.K401M	RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000370891.2_Missense_Mutation_p.K401M|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.K401M|TNNI3K_ENST00000326637.3_Missense_Mutation_p.K300M|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.K401M			Q59H18	TNI3K_HUMAN		300						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										AGTCTGACTAAGGAAAACATC	0.353000													5	20					0	0	0.217242	0	0
SLC38A5	92745	broad.mit.edu	37	X	48319074	48319074	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:48319074C>G	ENST00000376876.3	-	13	1872	c.1029G>C	c.(1027-1029)ctG>ctC	p.L343L	SLC38A5_ENST00000317669.5_Silent_p.L343L|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Silent_p.L292L			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	343					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						TCACCGCGAGCAGCACGGCCA	0.627000													23	21					0	0	0.681144	0	0
BSDC1	55108	broad.mit.edu	37	1	32842055	32842055	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:32842055C>A	ENST00000341071.7	-	9	1026	c.1015G>T	c.(1015-1017)Gat>Tat	p.D339Y	BSDC1_ENST00000413080.1_Missense_Mutation_p.D261Y|BSDC1_ENST00000526031.1_Missense_Mutation_p.D227Y|BSDC1_ENST00000446293.2_Missense_Mutation_p.D339Y|BSDC1_ENST00000449308.1_Missense_Mutation_p.D322Y|BSDC1_ENST00000419121.2_Missense_Mutation_p.D266Y|BSDC1_ENST00000455895.2_Missense_Mutation_p.D322Y			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	322							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCACCCACATCCACAGCCAGG	0.637000													37	34					8.01111e-26	1.31999e-25	0.853193	1	0
TEX13B	56156	broad.mit.edu	37	X	107224968	107224968	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:107224968C>A	ENST00000302917.1	-	2	482	c.390G>T	c.(388-390)caG>caT	p.Q130H		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	130										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TCTCGGTTAGCTGCAACTGGA	0.562000													62	93					2.10938e-32	3.59558e-32	0.870114	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27998021	27998021	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:27998021C>A	ENST00000441525.1	-	1	1545	c.1431G>T	c.(1429-1431)gaG>gaT	p.E477D		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	477										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTCTGTCCCCCTCCATGAACT	0.522000													29	39					9.39395e-14	1.36322e-13	0.706142	1	0
TMCC3	57458	broad.mit.edu	37	12	94975859	94975859	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:94975859G>T	ENST00000261226.4	-	2	665	c.534C>A	c.(532-534)ccC>ccA	p.P178P	TMCC3_ENST00000551457.1_Silent_p.P147P	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	178						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CCATGCAATGGGGGGCAGTTC	0.498000													77	51					1.02218e-41	1.77481e-41	0.870114	1	0
CHD7	55636	broad.mit.edu	37	8	61655554	61655554	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:61655554G>A	ENST00000423902.2	+	2	2042	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	CHD7_ENST00000524602.1_Silent_p.P521P|CHD7_ENST00000525508.1_Silent_p.P521P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	521	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)			AGCCTCACCCGGGCTTGCACC	0.577000													10	15					0	0	0.435327	0	0
COL4A1	1282	broad.mit.edu	37	13	110815873	110815873	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:110815873C>G	ENST00000375820.4	-	47	4307	c.4186G>C	c.(4186-4188)Ggt>Cgt	p.G1396R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1396	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGGAATACCTGGAGGTCCA	0.502000													4	27					0	0	0.150653	0	0
APC2	10297	broad.mit.edu	37	19	1462091	1462091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:1462091C>T	ENST00000535453.1	+	13	3481	c.1768C>T	c.(1768-1770)Cag>Tag	p.Q590*	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Nonsense_Mutation_p.Q316*|APC2_ENST00000233607.2_Nonsense_Mutation_p.Q590*|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	590					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		CTACAAGTGTCAGAGCAACTC	0.642000													3	0					0	0	0.115264	0	0
MEN1	4221	broad.mit.edu	37	11	64575497	64575497	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:64575497G>A	ENST00000337652.1	-	3	1038	c.535C>T	c.(535-537)Cac>Tac	p.H179Y	MEN1_ENST00000377326.3_Missense_Mutation_p.H174Y|MEN1_ENST00000394376.1_Missense_Mutation_p.H179Y|MEN1_ENST00000377321.1_Missense_Mutation_p.H174Y|MEN1_ENST00000377313.1_Missense_Mutation_p.H179Y|MEN1_ENST00000312049.6_Missense_Mutation_p.H174Y|MEN1_ENST00000315422.4_Missense_Mutation_p.H174Y|MEN1_ENST00000443283.1_Missense_Mutation_p.H179Y|MEN1_ENST00000377316.2_Missense_Mutation_p.H174Y|MEN1_ENST00000394374.2_Missense_Mutation_p.H179Y	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	179					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.A167fs*10(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AGGGCGAGGTGGACATCCCGG	0.622000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				4	15					0	0	0.184627	0	0
HNF1B	6928	broad.mit.edu	37	17	36104797	36104797	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:36104797C>A	ENST00000225893.4	-	1	440	c.79G>T	c.(79-81)Gtt>Ttt	p.V27F	HNF1B_ENST00000560016.1_Missense_Mutation_p.V27F|HNF1B_ENST00000427275.2_Missense_Mutation_p.V27F|HNF1B_ENST00000561193.1_Missense_Mutation_p.V27F	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	27	Dimerization (By similarity).				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			AAGGCCTGAACCAGCACCTCC	0.632000													5	44					0.0215528	0.0223239	0.217242	1	0
OR2W1	26692	broad.mit.edu	37	6	29012467	29012467	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:29012467G>A	ENST00000377175.1	-	1	550	c.486C>T	c.(484-486)ctC>ctT	p.L162L		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AATTCAGAGTGAGTGTACATA	0.393000													32	78					0	0	0.769981	0	0
COL1A2	1278	broad.mit.edu	37	7	94056964	94056964	+	Missense_Mutation	SNP	C	C	T	rs74315134		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:94056964C>T	ENST00000297268.6	+	49	3764	c.3293C>T	c.(3292-3294)cCt>cTt	p.P1098L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1098				P -> L (in Ref. 17; CAA23761).	axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGGCCCTCCTGGACCTCCA	0.537000										HNSCC(75;0.22)			13	58					0	0	0.500413	0	0
MYH1	4619	broad.mit.edu	37	17	10406170	10406170	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:10406170T>C	ENST00000226207.5	-	24	3090	c.2996A>G	c.(2995-2997)gAg>gGg	p.E999G	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	999						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGCCTTCTTCTCCTTGGTCAG	0.493000													20	55					0	0	0.624587	0	0
PPP1R32	220004	broad.mit.edu	37	11	61250202	61250202	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:61250202T>G	ENST00000338608.2	+	4	428	c.303T>G	c.(301-303)caT>caG	p.H101Q	RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Missense_Mutation_p.H101Q	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	101																	ACGGCAAGCATCCCCTGCCCT	0.667000											OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	16					0	0	0.307466	0	0
POC5	134359	broad.mit.edu	37	5	74970315	74970315	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:74970315C>A	ENST00000428202.2	-	12	1862	c.1673G>T	c.(1672-1674)aGa>aTa	p.R558I	POC5_ENST00000510798.1_Missense_Mutation_p.R382I|POC5_ENST00000514838.2_Missense_Mutation_p.R530I|POC5_ENST00000380475.2_Missense_Mutation_p.R382I|POC5_ENST00000446329.2_Missense_Mutation_p.R533I	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	558					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTGAGCTGATCTGGTTCCAAG	0.438000													58	132					5.86059e-21	9.38924e-21	0.870114	1	0
DPF3	8110	broad.mit.edu	37	14	73137930	73137930	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:73137930C>G	ENST00000541685.1	-	9	1000	c.988G>C	c.(988-990)Gag>Cag	p.E330Q	DPF3_ENST00000546183.1_Missense_Mutation_p.E340Q|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Intron	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	158					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AAATCGTCCTCATCAAAGCCG	0.577000													7	58					0	0	0.278610	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416024	5416024	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:5416024G>A	ENST00000341928.2	-	13	2200	c.1860C>T	c.(1858-1860)agC>agT	p.S620S	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Silent_p.S620S|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	620	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AATGCTGCAAGCTCTGGGGCA	0.537000													17	88					0	0	0.539581	0	0
LRTM1	57408	broad.mit.edu	37	3	54952837	54952837	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:54952837G>T	ENST00000273286.5	-	3	849	c.687C>A	c.(685-687)taC>taA	p.Y229*	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Nonsense_Mutation_p.Y153*|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	229	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GGCAGGGCTGGTACAGCTCAT	0.567000													11	10					4.3838e-07	5.41604e-07	0.435327	1	0
PITPNM2	57605	broad.mit.edu	37	12	123485673	123485673	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:123485673T>A	ENST00000280562.5	-	8	1286	c.1081A>T	c.(1081-1083)Aag>Tag	p.K361*	PITPNM2_ENST00000542749.1_Nonsense_Mutation_p.K361*|PITPNM2_ENST00000320201.4_Nonsense_Mutation_p.K361*|PITPNM2_ENST00000546049.1_Nonsense_Mutation_p.K399*|PITPNM2_ENST00000392428.1_Nonsense_Mutation_p.K82*|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	361					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGATGTCCTTGGGGAACATT	0.597000													8	27					0	0	0.278610	0	0
TBX10	347853	broad.mit.edu	37	11	67400440	67400440	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:67400440C>T	ENST00000335385.3	-	5	771	c.684G>A	c.(682-684)gtG>gtA	p.V228V		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	228					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						GATAGGCTGTCACTGCTGTGA	0.587000													9	35					0	0	0.435327	0	0
CHRM3	1131	broad.mit.edu	37	1	240071406	240071406	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:240071406G>T	ENST00000255380.4	+	5	1434	c.655G>T	c.(655-657)Gga>Tga	p.G219*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	219					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGTGCCTCCGGGAGAGTGCTT	0.478000													65	54					1.26778e-28	2.12223e-28	0.870114	1	0
CREB5	9586	broad.mit.edu	37	7	28610010	28610010	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:28610010G>T	ENST00000357727.2	+	5	709	c.319G>T	c.(319-321)Ggg>Tgg	p.G107W	CREB5_ENST00000396300.2_Missense_Mutation_p.G100W|CREB5_ENST00000409603.1_Missense_Mutation_p.G74W|CREB5_ENST00000396299.2_Missense_Mutation_p.G74W	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	107					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TGCAGTTGGTGGGGCCATGAC	0.542000													19	45					3.62473e-10	4.85708e-10	0.608945	1	0
DST	667	broad.mit.edu	37	6	56393681	56393681	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:56393681G>C	ENST00000370754.5	-	67	17544	c.17545C>G	c.(17545-17547)Cag>Gag	p.Q5849E	DST_ENST00000370788.2_Missense_Mutation_p.Q3474E|DST_ENST00000361203.3_Missense_Mutation_p.Q5560E|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.Q5345E|DST_ENST00000244364.6_Missense_Mutation_p.Q3257E|DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Missense_Mutation_p.Q5671E|DST_ENST00000421834.2_Missense_Mutation_p.Q3583E			Q03001	DYST_HUMAN	dystonin	5669					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTAAAGCCTGATCTACATTT	0.333000													5	3					0	0	0.248553	0	0
FXN	2395	broad.mit.edu	37	9	71661388	71661388	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:71661388G>T	ENST00000377270.3	+	2	777	c.253G>T	c.(253-255)Ggc>Tgc	p.G85C	FXN_ENST00000396366.2_Missense_Mutation_p.G85C|FXN_ENST00000498653.1_Missense_Mutation_p.G10C|FXN_ENST00000396364.3_Missense_Mutation_p.G85C	NM_000144.4	NP_000135.2	Q16595	FRDA_HUMAN	frataxin	85					cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding			large_intestine(1)|lung(1)	2						TGGAACTTTGGGCCACCCAGG	0.458000													10	9					6.40141e-05	7.28676e-05	0.387290	1	0
HOXC4	3221	broad.mit.edu	37	12	54448886	54448886	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:54448886C>G	ENST00000430889.2	+	2	738	c.692C>G	c.(691-693)gCg>gGg	p.A231G	HOXC4_ENST00000303406.4_Missense_Mutation_p.A231G	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	231						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GCCGGCGCTGCGCCCAGCACC	0.607000													8	11					0	0	0.278610	0	0
KIF5A	3798	broad.mit.edu	37	12	57974740	57974740	+	Splice_Site	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:57974740T>C	ENST00000455537.2	+	24	2814	c.2538_splice	c.e24-1	p.L847_splice	KIF5A_ENST00000286452.5_Splice_Site_p.L758_splice	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	847					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCCCCATAGCTGGTACGTGAC	0.532000													11	34					0	0	0.435327	0	0
OR51B2	79345	broad.mit.edu	37	11	5344661	5344661	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:5344661G>T	ENST00000328813.2	-	1	921	c.867C>A	c.(865-867)atC>atA	p.I289I	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGCTGTAGATGACAGGGT	0.383000													17	47					2.48551e-13	3.56072e-13	0.520397	1	0
SENP5	205564	broad.mit.edu	37	3	196613016	196613016	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:196613016C>T	ENST00000323460.5	+	2	1213	c.964C>T	c.(964-966)Cat>Tat	p.H322Y	SENP5_ENST00000445299.2_Missense_Mutation_p.H322Y|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	322					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		GACGAACTCTCATGTGCCTGA	0.512000													6	52					0	0	0.217242	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65242138	65242138	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:65242138C>A	ENST00000380230.3	+	14	1457	c.1428C>A	c.(1426-1428)aaC>aaA	p.N476K	ANKDD1A_ENST00000395720.1_Missense_Mutation_p.N476K|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.N444K|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.N353K	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	476	Death.				signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CTGGTGAGAACCCCAGCAAAG	0.627000													15	11					4.59853e-10	6.13746e-10	0.693898	1	0
RBFOX1	54715	broad.mit.edu	37	16	7568279	7568279	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:7568279C>A	ENST00000340209.4	+	2	470	c.173C>A	c.(172-174)aCa>aAa	p.T58K	RBFOX1_ENST00000553186.1_Missense_Mutation_p.T53K|RBFOX1_ENST00000535565.2_Missense_Mutation_p.T89K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.T73K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.T53K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.T96K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.T89K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.T53K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.T73K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.T73K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.T96K			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	53					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCAGAGTACACAGGCCAGACC	0.647000													27	44					9.65021e-13	1.37661e-12	0.750413	1	0
ALMS1	7840	broad.mit.edu	37	2	73799765	73799765	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:73799765C>T	ENST00000264448.6	+	16	10869	c.10758C>T	c.(10756-10758)acC>acT	p.T3586T	ALMS1_ENST00000409009.1_Silent_p.T3544T	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3586					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGAAGGTCACCCCAGAGCAAA	0.438000													41	42					0	0	0.847076	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905649	144905649	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:144905649T>A	ENST00000370490.1	+	1	5961	c.1706T>A	c.(1705-1707)cTa>cAa	p.L569Q	SLITRK2_ENST00000413937.2_Missense_Mutation_p.L569Q|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L569Q|SLITRK2_ENST00000447897.2_Missense_Mutation_p.L569Q|SLITRK2_ENST00000434188.2_Missense_Mutation_p.L569Q			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	569	LRRCT 2.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGATACTAAAATTTCTG	0.483000													6	64					0	0	0.217242	0	0
CNGA2	1260	broad.mit.edu	37	X	150912748	150912748	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:150912748C>A	ENST00000329903.4	+	6	1806	c.1773C>A	c.(1771-1773)acC>acA	p.T591T		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	591					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTGGCAACCAGCATGGAGG	0.567000													41	332					3.68427e-32	6.26736e-32	0.853193	1	0
CSMD3	114788	broad.mit.edu	37	8	113697681	113697681	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:113697681C>A	ENST00000297405.5	-	15	2680	c.2436G>T	c.(2434-2436)caG>caT	p.Q812H	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q772H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q812H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q708H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	812	CUB 4.					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						AGTGGTCAGCCTGAAATTCCA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	71					4.26978e-12	5.9891e-12	0.654019	1	0
MARCH10	162333	broad.mit.edu	37	17	60865926	60865926	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:60865926G>T	ENST00000544856.2	-	4	503	c.125C>A	c.(124-126)cCa>cAa	p.P42Q	MARCH10_ENST00000456609.2_Missense_Mutation_p.P42Q|MARCH10_ENST00000583600.1_Missense_Mutation_p.P42Q|MARCH10_ENST00000311269.5_Missense_Mutation_p.P42Q			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	42							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTTCTCATTTGGGTCTCTTCT	0.418000													4	47					0.150653	0.152838	0.150653	1	0
VSIG1	340547	broad.mit.edu	37	X	107320447	107320447	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:107320447C>A	ENST00000415430.3	+	8	1269	c.1108C>A	c.(1108-1110)Cca>Aca	p.P370T	VSIG1_ENST00000217957.5_Missense_Mutation_p.P334T	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	334						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						agagcctgccccagGATCAGA	0.562000													18	90					6.7651e-33	1.15433e-32	0.870114	1	0
IGFBP5	3488	broad.mit.edu	37	2	217542840	217542840	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:217542840T>G	ENST00000233813.4	-	3	1431	c.682A>C	c.(682-684)Aag>Cag	p.K228Q		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	228	Thyroglobulin type-1.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTACCTGCTTTCTCTTGTAG	0.577000													16	39					0	0	0.520397	0	0
BAI3	577	broad.mit.edu	37	6	69728345	69728345	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:69728345G>T	ENST00000370598.1	+	13	2882	c.2061G>T	c.(2059-2061)atG>atT	p.M687I		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	687					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTGTTGGAATGGGGATGATGG	0.313000													11	16					0.00010058	0.000113414	0.411799	1	0
ITGB1BP2	26548	broad.mit.edu	37	X	70521702	70521702	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:70521702C>A	ENST00000373829.3	+	1	119	c.46C>A	c.(46-48)Cct>Act	p.P16T	ITGB1BP2_ENST00000538820.1_5'UTR	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	16	CHORD 1.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GCACTTTGACCCTAATACCAA	0.527000													20	32					3.83957e-06	4.58509e-06	0.639603	1	0
LINC01410	103352539	broad.mit.edu	37	9	66458242	66458242	+	RNA	SNP	T	T	C	rs141657327	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:66458242T>C	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							ccgggcgcgttcagggtggtg	0.652000													2	6					0	0	0.115264	0	0
PICALM	8301	broad.mit.edu	37	11	85712197	85712197	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:85712197T>A	ENST00000526033.1	-	10	1214	c.898A>T	c.(898-900)Act>Tct	p.T300S	PICALM_ENST00000393346.3_Missense_Mutation_p.T300S|PICALM_ENST00000532317.1_Missense_Mutation_p.T300S|PICALM_ENST00000528398.1_Missense_Mutation_p.T249S|PICALM_ENST00000356360.5_Missense_Mutation_p.T300S	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	300					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GAAAGTGTAGTTGCCCTAGGA	0.458000			T	"""MLLT10, MLL"""	"""TALL, AML, """								9	51					0	0	0.335167	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927182	111927182	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:111927182G>T	ENST00000305815.5	-	16	2081	c.1829C>A	c.(1828-1830)aCt>aAt	p.T610N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.T562N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	610	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AAATTCCTCAGTAAATACTAT	0.274000													15	43					1.99824e-07	2.51502e-07	0.520397	1	0
FGA	2243	broad.mit.edu	37	4	155505595	155505595	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:155505595G>T	ENST00000302053.3	-	6	2360	c.2282C>A	c.(2281-2283)aCt>aAt	p.T761N		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	761	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATCACCCGCAGTGCCTTCATA	0.532000													60	49					2.73361e-28	4.56236e-28	0.870114	1	0
CHD5	26038	broad.mit.edu	37	1	6202513	6202513	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:6202513C>A	ENST00000262450.3	-	14	2295	c.2196G>T	c.(2194-2196)acG>acT	p.T732T	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	732	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGTCTGCACCGTCTTGCCCA	0.652000													4	13					0.00307968	0.0032893	0.278610	1	0
TRY2P	207147	broad.mit.edu	37	7	141968459	141968459	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:141968459C>A	ENST00000334288.5	-	0	1682					NR_036483.1																						CCACAAACCCCTTATGCTAAT	0.463000													3	5					1.23904e-05	1.45683e-05	0.184627	1	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473324	22473324	+	RNA	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:22473324C>T	ENST00000557788.2	-	0	29																											GAGCTGCCACCAGGAGGAGAA	0.512000													16	30					0	0	0.624587	0	0
MT-ND1	4535	broad.mit.edu	37	MT	3946	3946	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrM:3946G>A	ENST00000361390.2	+	1	640	c.640G>A	c.(640-642)Gaa>Aaa	p.214_214insK						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						GCTTCAACATCGAATACGCCG	0.473000													134	112					0	0	0.870114	0	0
SYTL4	94121	broad.mit.edu	37	X	99956481	99956481	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:99956481C>G	ENST00000372981.1	-	3	485	c.299G>C	c.(298-300)tGg>tCg	p.W100S	SYTL4_ENST00000455616.1_Missense_Mutation_p.W100S|SYTL4_ENST00000276141.6_Missense_Mutation_p.W100S|SYTL4_ENST00000372989.1_Missense_Mutation_p.W100S|SYTL4_ENST00000454200.2_Missense_Mutation_p.W100S|SYTL4_ENST00000263033.5_Missense_Mutation_p.W100S			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	100	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTGCACCTCCAGGTACCATT	0.552000													28	88					0	0	0.729181	0	0
MROH2B	133558	broad.mit.edu	37	5	40999795	40999795	+	Silent	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:40999795T>A	ENST00000399564.4	-	40	5019	c.4569A>T	c.(4567-4569)gcA>gcT	p.A1523A	MROH2B_ENST00000506092.2_Silent_p.A1078A	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GTTTGACAGCTGCACTCCTGA	0.478000													60	67					0	0	0.870114	0	0
MIXL1	83881	broad.mit.edu	37	1	226413423	226413423	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:226413423T>A	ENST00000366810.5	+	2	673	c.609T>A	c.(607-609)aaT>aaA	p.N203K	MIXL1_ENST00000542034.1_Missense_Mutation_p.N211K|MIXL1_ENST00000557734.1_Intron			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	203					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		AAGGTCAGAATTTTGAAACCT	0.512000													25	42					0	0	0.667858	0	0
TSHR	7253	broad.mit.edu	37	14	81609869	81609869	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:81609869G>A	ENST00000541158.2	+	11	1789	c.1467G>A	c.(1465-1467)caG>caA	p.Q489Q	TSHR_ENST00000298171.2_Silent_p.Q489Q|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	489					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCGACTGGCAGACAGGCCCTG	0.547000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						9	68					0	0	0.411799	0	0
EEF2	1938	broad.mit.edu	37	19	3979399	3979399	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:3979399C>A	ENST00000309311.6	-	11	1729	c.1641G>T	c.(1639-1641)gcG>gcT	p.A547A		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	547						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.A547A(1)		endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGGCGCCCGCGATGATAT	0.647000													11	4					0.00136819	0.0014792	0.411799	1	0
FHL1	2273	broad.mit.edu	37	X	135288734	135288734	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:135288734G>T	ENST00000543669.1	+	2	854	c.143G>T	c.(142-144)gGt>gTt	p.G48V	FHL1_ENST00000539015.1_Missense_Mutation_p.G77V|FHL1_ENST00000394155.2_Missense_Mutation_p.G48V|FHL1_ENST00000345434.3_Missense_Mutation_p.G48V|FHL1_ENST00000370676.3_Missense_Mutation_p.G64V|FHL1_ENST00000394153.2_Missense_Mutation_p.G48V|FHL1_ENST00000370683.1_Missense_Mutation_p.G64V|FHL1_ENST00000535737.1_Missense_Mutation_p.G48V|FHL1_ENST00000370690.3_Missense_Mutation_p.G48V|FHL1_ENST00000477080.1_3'UTR	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	48	LIM zinc-binding 1.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					AAGCCCATCGGTGCGGACTCC	0.557000													54	121					1.20869e-33	2.0687e-33	0.870114	1	0
RP11-408H1.3	0	broad.mit.edu	37	3	172310373	172310373	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:172310373C>A	ENST00000418839.2	-	0	1341																											gcgggggtgcctctgattgaa	0.547000													7	4					0.000274275	0.000302767	0.307466	1	0
AJAP1	55966	broad.mit.edu	37	1	4772112	4772112	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:4772112C>A	ENST00000378191.4	+	2	563	c.182C>A	c.(181-183)cCc>cAc	p.P61H	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.P61H	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	61					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ccccggccgccccggcTGTGG	0.741000													5	3					5.18039e-06	6.15126e-06	0.278610	1	0
DSP	1832	broad.mit.edu	37	6	7582930	7582930	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:7582930G>C	ENST00000379802.3	+	24	5776	c.5435G>C	c.(5434-5436)aGa>aCa	p.R1812T	DSP_ENST00000418664.2_Missense_Mutation_p.R1213T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1812	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTACAGGAAAGAGAGAGCCTT	0.423000													7	164					0	0	0.307466	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10709681	10709681	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:10709681A>T	ENST00000379568.3	+	10	1466	c.1175A>T	c.(1174-1176)cAg>cTg	p.Q392L		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	392					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				AAAACAATGCAGTGAATCACA	0.313000													34	38					0	0	0.788014	0	0
COL11A2	1302	broad.mit.edu	37	6	33139547	33139547	+	Silent	SNP	C	C	T	rs61738289		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:33139547C>T	ENST00000341947.2	-	42	3320	c.3093G>A	c.(3091-3093)ccG>ccA	p.P1031P	COL11A2_ENST00000374713.1_Silent_p.P984P|COL11A2_ENST00000361917.1_Silent_p.P924P|COL11A2_ENST00000395197.1_Silent_p.P971P|COL11A2_ENST00000374714.1_Silent_p.P1005P|COL11A2_ENST00000374708.4_Silent_p.P945P|COL11A2_ENST00000357486.1_Silent_p.P1010P|COL11A2_ENST00000374712.1_Silent_p.P950P|COL11A2_ENST00000477772.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1031	Triple-helical region.			PP -> RQ (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 6; AAA52034).	cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGCGCCCTGGCGGACCAATGG	0.672000													4	10					0	0	0.150653	0	0
NR4A2	4929	broad.mit.edu	37	2	157186347	157186347	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:157186347C>A	ENST00000339562.4	-	3	714	c.352G>T	c.(352-354)Ggg>Tgg	p.G118W	NR4A2_ENST00000426264.1_Missense_Mutation_p.G55W|NR4A2_ENST00000539077.1_Missense_Mutation_p.G129W|NR4A2_ENST00000409572.1_Missense_Mutation_p.G118W|NR4A2_ENST00000429376.1_Missense_Mutation_p.G55W|NR4A2_ENST00000409108.2_Missense_Mutation_p.G118W	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	118	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TAAACCGACCCGGAGTGCGGC	0.617000													6	32					2.0095e-06	2.42381e-06	0.248553	1	0
HECW2	57520	broad.mit.edu	37	2	197081766	197081766	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:197081766C>G	ENST00000260983.2	-	27	4642	c.4460G>C	c.(4459-4461)aGa>aCa	p.R1487T	HECW2_ENST00000409111.1_Missense_Mutation_p.R1131T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1487	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATTGTTGAATCTTTCCACTGC	0.328000													14	86					0	0	0.457914	0	0
GABRA3	2556	broad.mit.edu	37	X	151453203	151453203	+	Silent	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:151453203T>A	ENST00000370314.4	-	4	505	c.267A>T	c.(265-267)gcA>gcT	p.A89A	GABRA3_ENST00000370311.1_Silent_p.A89A|GABRA3_ENST00000535043.1_Silent_p.A89A	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	89					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTCAGTCACTGCATCTGCGT	0.438000													13	140					0	0	0.479597	0	0
NLRP11	204801	broad.mit.edu	37	19	56321105	56321105	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:56321105C>G	ENST00000443188.1	-	5	1581	c.871G>C	c.(871-873)Gag>Cag	p.E291Q	NLRP11_ENST00000360133.3_Missense_Mutation_p.E291Q|NLRP11_ENST00000589093.1_Missense_Mutation_p.E291Q|NLRP11_ENST00000592953.1_Missense_Mutation_p.E192Q|NLRP11_ENST00000589824.2_Missense_Mutation_p.E291Q	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	291	NACHT.						ATP binding	p.E291fs*1(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAATCTACCTCTTTCAAGAAC	0.493000													23	23					0	0	0.681144	0	0
ITGA10	8515	broad.mit.edu	37	1	145534113	145534113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:145534113C>T	ENST00000369304.3	+	14	1793	c.1618C>T	c.(1618-1620)Cag>Tag	p.Q540*	ITGA10_ENST00000538811.1_Nonsense_Mutation_p.Q409*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.Q397*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	540					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGAACACTTCAGCCAGAACC	0.537000													66	262					0	0	0.870114	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104361	26104361	+	Silent	SNP	C	C	T	rs141888021		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:26104361C>T	ENST00000377803.2	+	1	258	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	62					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TTAAGGTTTTCTTAGAGAACG	0.522000													7	80					0	0	0.248553	0	0
ARPC1A	10552	broad.mit.edu	37	7	98951635	98951635	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:98951635G>T	ENST00000432884.2	+	8	924	c.463G>T	c.(463-465)Ggc>Tgc	p.G155C	ARPC1A_ENST00000471960.1_3'UTR|ARPC1A_ENST00000262942.5_Missense_Mutation_p.G202C			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	202					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGGCAGTGGCACTGGTGG	0.582000													14	17					2.35188e-11	3.25005e-11	0.539581	1	0
MUC16	94025	broad.mit.edu	37	19	9002182	9002182	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:9002182G>A	ENST00000397910.4	-	52	40525	c.40322C>T	c.(40321-40323)aCc>aTc	p.T13441I	MUC16_ENST00000380951.5_Missense_Mutation_p.T82I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13443					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						GCTCTGATGGGTGAAACCTGC	0.502000													21	65					0	0	0.693898	0	0
ARGLU1	55082	broad.mit.edu	37	13	107209470	107209470	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:107209470G>A	ENST00000400198.3	-	3	827	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	ARGLU1_ENST00000375926.1_Missense_Mutation_p.R64C|ARGLU1_ENST00000472226.1_5'UTR	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	195	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGTTTTGCACGTTCTTCCTCC	0.333000													6	37					0	0	0.217242	0	0
TENM1	10178	broad.mit.edu	37	X	123518372	123518372	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:123518372C>A	ENST00000422452.2	-	30	6472	c.6409G>T	c.(6409-6411)Gtg>Ttg	p.V2137L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.V2130L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATGCGGCCCACATTATCATAT	0.403000													50	81					2.12129e-23	3.46463e-23	0.870114	1	0
CCDC172	374355	broad.mit.edu	37	10	118101594	118101594	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:118101594A>C	ENST00000333254.3	+	5	580	c.329A>C	c.(328-330)aAg>aCg	p.K110T	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		AAATTTATTAAGGAAATTACA	0.254000													9	3					0	0	0.361761	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104512090	104512090	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:104512090G>C	ENST00000372582.1	+	5	1319	c.563G>C	c.(562-564)tGg>tCg	p.W188S	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.W188S	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	188	Ig-like C2-type 2.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCAAAAATGTGGAGAAGCATA	0.333000													16	44					0	0	0.520397	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965558	35965558	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:35965558G>T	ENST00000274278.3	-	4	1130	c.773C>A	c.(772-774)gCc>gAc	p.A258D	UGT3A1_ENST00000333811.4_Missense_Mutation_p.A204D|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A224D|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A258D	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	258						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGGGCCGGGCAAAATCAAA	0.438000													92	37					3.68432e-56	6.48426e-56	0.870114	1	0
MAD2L1	4085	broad.mit.edu	37	4	120982124	120982124	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:120982124C>A	ENST00000296509.5	-	4	689	c.350G>T	c.(349-351)aGa>aTa	p.R117I		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	117	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						AGACTTTTCTCTGGGTGCACT	0.348000													3	4					0.150653	0.152838	0.150653	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768471	31768471	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr21:31768471G>T	ENST00000355459.2	+	1	80	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	23						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCACTACCCAGCCTCCTCCTG	0.567000													56	20					8.80465e-56	1.54796e-55	0.870114	1	0
NALCN	259232	broad.mit.edu	37	13	101763498	101763498	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:101763498G>T	ENST00000251127.6	-	19	2353	c.2272C>A	c.(2272-2274)Cat>Aat	p.H758N		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	758						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGGATATGATGCTGCACGCTG	0.522000													13	157					2.23348e-06	2.68819e-06	0.500413	1	0
UNC5B	219699	broad.mit.edu	37	10	73048446	73048446	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:73048446G>T	ENST00000335350.6	+	7	1439	c.1023G>T	c.(1021-1023)acG>acT	p.T341T	UNC5B_ENST00000373192.4_Silent_p.T341T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	341	TSP type-1 2.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCAGCGGGACGCTGCTCGACT	0.642000													8	10					0.000274275	0.000302767	0.307466	1	0
ZNF418	147686	broad.mit.edu	37	19	58441835	58441835	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:58441835C>A	ENST00000396147.1	-	3	385	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	ZNF418_ENST00000595830.1_Missense_Mutation_p.D32Y|ZNF418_ENST00000600989.1_Missense_Mutation_p.D32Y|ZNF418_ENST00000599852.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.D53Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AGCATCACGTCATGGTAAAGG	0.498000													27	36					1.2476e-16	1.91473e-16	0.706142	1	0
TYR	7299	broad.mit.edu	37	11	88924417	88924417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:88924417C>A	ENST00000263321.5	+	2	1369	c.867C>A	c.(865-867)tgC>tgA	p.C289*	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	289			C -> G (in OCA1A).|C -> R (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AGTCTTTATGCAATGGAACGC	0.473000													23	66					7.41877e-09	9.61863e-09	0.608945	1	0
INHBA	3624	broad.mit.edu	37	7	41729893	41729893	+	Missense_Mutation	SNP	G	G	T	rs149369067		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:41729893G>T	ENST00000242208.4	-	3	882	c.636C>A	c.(634-636)gaC>gaA	p.D212E	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.D212E	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	212					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCTTCCGAGCGTCTACTACTT	0.587000										TSP Lung(11;0.080)			4	7					0.0215528	0.0223239	0.217242	1	0
SRP54	6729	broad.mit.edu	37	14	35482586	35482586	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:35482586C>T	ENST00000556994.1	+	10	1068	c.671C>T	c.(670-672)tCc>tTc	p.S224F	SRP54_ENST00000216774.6_Missense_Mutation_p.S224F|SRP54_ENST00000555557.1_Missense_Mutation_p.S160F|SRP54_ENST00000546080.1_Missense_Mutation_p.S175F			P61011	SRP54_HUMAN	signal recognition particle 54kDa	224	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATGGATGCCTCCATTGGGCAG	0.368000													11	51					0	0	0.479597	0	0
ACAN	176	broad.mit.edu	37	15	89386683	89386683	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:89386683G>T	ENST00000439576.2	+	6	1229	c.855G>T	c.(853-855)caG>caT	p.Q285H	ACAN_ENST00000561243.1_Missense_Mutation_p.Q285H|ACAN_ENST00000559004.1_Missense_Mutation_p.Q285H|ACAN_ENST00000352105.7_Missense_Mutation_p.Q285H|ACAN_ENST00000558207.1_Missense_Mutation_p.Q285H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	285					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCACGGGCCAGCTCTACCTGG	0.662000													2	1					0.00909568	0.00952692	0.150653	1	0
CRMP1	1400	broad.mit.edu	37	4	5844826	5844826	+	Silent	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:5844826A>T	ENST00000324989.7	-	7	1114	c.1026T>A	c.(1024-1026)ccT>ccA	p.P342P	CRMP1_ENST00000397890.2_Silent_p.P228P|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.P226P	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	228					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TTACCTCTTCAGGTCTGCTCA	0.552000													48	61					0	0	0.870114	0	0
KIAA2026	158358	broad.mit.edu	37	9	5922999	5922999	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:5922999G>A	ENST00000399933.3	-	8	2996	c.2997C>T	c.(2995-2997)ctC>ctT	p.L999L	KIAA2026_ENST00000381461.2_Silent_p.L969L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	999										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCCCTTTCTGGAGAGTAGACA	0.423000													103	102					0	0	0.870114	0	0
DCTD	1635	broad.mit.edu	37	4	183836119	183836119	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:183836119C>G	ENST00000438320.2	-	3	491	c.201G>C	c.(199-201)tgG>tgC	p.W67C	DCTD_ENST00000513383.1_5'UTR|DCTD_ENST00000357067.3_Missense_Mutation_p.W78C|DCTD_ENST00000510370.1_Missense_Mutation_p.W67C	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	67					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		CTGTCCTTCTCCAAGGCAACA	0.493000													5	18					0	0	0.184627	0	0
KRT5	3852	broad.mit.edu	37	12	52908971	52908971	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:52908971C>A	ENST00000252242.4	-	9	1918	c.1528G>T	c.(1528-1530)Ggt>Tgt	p.G510C		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	510	Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ccgaggccaccgccatagcca	0.617000													3	12					0.00024832	0.000275565	0.150653	1	0
PEX26	55670	broad.mit.edu	37	22	18570840	18570840	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:18570840G>A	ENST00000329627.6	+	6	1123	c.917G>A	c.(916-918)tGa>tAa	p.*306*	PEX26_ENST00000399744.3_Silent_p.*306*|PEX26_ENST00000428061.2_Silent_p.*257*	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	0					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATCCGTGACTGAGGGTCCCTG	0.627000													19	12					0	0	0.788014	0	0
RGSL1	353299	broad.mit.edu	37	1	182443129	182443129	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:182443129C>A	ENST00000294854.8	+	6	903	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	RGSL1_ENST00000542961.1_Missense_Mutation_p.L330M	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	295						integral to membrane	signal transducer activity			central_nervous_system(2)|skin(4)	6						AATGCCTTCCCTGAAAATGGC	0.433000													7	15					5.18039e-06	6.15126e-06	0.278610	1	0
SRRM4	84530	broad.mit.edu	37	12	119568489	119568489	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:119568489C>A	ENST00000267260.4	+	8	1009	c.621C>A	c.(619-621)cgC>cgA	p.R207R	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	207	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCAGGCACCGCGGCCGGTCCC	0.627000													5	19					0.0215528	0.0223239	0.217242	1	0
SLC26A10	65012	broad.mit.edu	37	12	58018324	58018324	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:58018324T>A	ENST00000379218.2	+	10	1580	c.1269T>A	c.(1267-1269)agT>agA	p.S423R	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000320442.4_Intron			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	0	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TGACCCTGAGTGTGGATTTGG	0.592000													4	8					0	0	0.248553	0	0
CLCN4	1183	broad.mit.edu	37	X	10176537	10176537	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:10176537G>C	ENST00000380833.4	+	9	1687	c.1296G>C	c.(1294-1296)cgG>cgC	p.R432R	CLCN4_ENST00000421085.2_Silent_p.R338R|CLCN4_ENST00000380829.1_Silent_p.R401R	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	432						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCCAGACCGGCCGGCTGGTG	0.527000													146	168					0	0	0.870114	0	0
F8	2157	broad.mit.edu	37	X	154157976	154157976	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:154157976C>T	ENST00000360256.4	-	14	4289	c.4089G>A	c.(4087-4089)atG>atA	p.M1363I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1363	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCAAATGTTTCATGTTTTTGG	0.438000													57	307					0	0	0.870114	0	0
CLNS1A	1207	broad.mit.edu	37	11	77333672	77333672	+	Silent	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:77333672T>C	ENST00000525428.1	-	5	609	c.519A>G	c.(517-519)ggA>ggG	p.G173G	CLNS1A_ENST00000525064.1_Intron|CLNS1A_ENST00000532069.1_Silent_p.G103G|CLNS1A_ENST00000263309.3_Silent_p.G139G|CLNS1A_ENST00000528364.1_Silent_p.G173G	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	173					blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GATGGGATAATCCTTCTTCAT	0.393000													4	57					0	0	0.150653	0	0
PACS2	23241	broad.mit.edu	37	14	105818725	105818725	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:105818725G>A	ENST00000447393.1	+	3	393	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_Missense_Mutation_p.R6Q|PACS2_ENST00000458164.2_Missense_Mutation_p.R73Q|PACS2_ENST00000325438.8_Missense_Mutation_p.R73Q	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	73					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GGCTCCAAACGAATCCTGCGG	0.532000											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	35					0	0	0.435327	0	0
MIER3	166968	broad.mit.edu	37	5	56229127	56229127	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:56229127C>T	ENST00000381226.3	-	8	724	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	MIER3_ENST00000381199.3_Missense_Mutation_p.E232K|MIER3_ENST00000381213.3_Missense_Mutation_p.E232K|MIER3_ENST00000409421.1_Missense_Mutation_p.E169K			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	232	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		ATTATTTTTTCACTGCCAGTC	0.398000													17	47					0	0	0.592651	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278062	89278062	+	RNA	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:89278062G>T	ENST00000390247.2	-	0	369																											TGAGAGTGAAGTCTGTCCCAG	0.522000													58	16					9.13743e-30	1.54188e-29	0.870114	1	0
CABS1	85438	broad.mit.edu	37	4	71201001	71201001	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:71201001G>T	ENST00000273936.4	+	1	304	c.245G>T	c.(244-246)gGg>gTg	p.G82V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	82						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATGATATGGGGACCGACTTT	0.358000													35	69					1.45844e-13	2.10733e-13	0.769981	1	0
KRT4	3851	broad.mit.edu	37	12	53204583	53204583	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:53204583T>A	ENST00000551956.1	-	3	1187	c.695A>T	c.(694-696)aAc>aTc	p.N232I	KRT4_ENST00000293774.4_Missense_Mutation_p.N306I|KRT4_ENST00000458244.2_Missense_Mutation_p.N212I			B4DRS2	B4DRS2_HUMAN	keratin 4	232						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TGTGCGTTTGTTGATCTCCTC	0.517000													4	21					0	0	0.150653	0	0
UBE2I	7329	broad.mit.edu	37	16	1374771	1374771	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:1374771G>T	ENST00000355803.4	+	7	1005	c.454G>T	c.(454-456)Gcc>Tcc	p.A152S	UBE2I_ENST00000325437.5_Missense_Mutation_p.A152S|UBE2I_ENST00000397515.2_Missense_Mutation_p.A152S|UBE2I_ENST00000406620.1_Missense_Mutation_p.A152S|UBE2I_ENST00000397514.3_Missense_Mutation_p.A152S|UBE2I_ENST00000566587.1_Missense_Mutation_p.A152S|UBE2I_ENST00000403747.2_Missense_Mutation_p.A152S	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	152					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CCGAGCACAAGCCAAGAAGTT	0.493000													5	8					3.09899e-07	3.85708e-07	0.307466	1	0
DENND3	22898	broad.mit.edu	37	8	142161885	142161885	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:142161885C>T	ENST00000519811.1	+	7	1093	c.1023C>T	c.(1021-1023)ccC>ccT	p.P341P	DENND3_ENST00000424248.1_Silent_p.P261P|DENND3_ENST00000262585.2_Silent_p.P261P			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	261										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCATGGCCCCCACGTCCTTCC	0.547000													36	21					0	0	0.840704	0	0
OR5H6	79295	broad.mit.edu	37	3	97983526	97983526	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:97983526C>A	ENST00000383696.2	+	1	439	c.398C>A	c.(397-399)aCa>aAa	p.T133K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTCTTGGCAACAATGGCATAT	0.353000													10	71					1.08611e-07	1.37525e-07	0.387290	1	0
SETDB1	9869	broad.mit.edu	37	1	150923357	150923357	+	Silent	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:150923357A>T	ENST00000271640.5	+	13	2194	c.2004A>T	c.(2002-2004)cgA>cgT	p.R668R	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.R668R	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTGTGGACCGAAAGTTTCAGC	0.443000													10	95					0	0	0.335167	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54917263	54917263	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:54917263A>G	ENST00000293373.6	+	19	2043	c.1964A>G	c.(1963-1965)gAg>gGg	p.E655G	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E605G	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	655					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGAAAAGGAGAGCCCGAGAGG	0.532000													31	67					0	0	0.804634	0	0
OTOGL	283310	broad.mit.edu	37	12	80665453	80665453	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:80665453G>T	ENST00000458043.2	+	23	2523	c.2517G>T	c.(2515-2517)gaG>gaT	p.E839D	OTOGL_ENST00000547103.1_Missense_Mutation_p.E839D	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGGGAAAAGAGTATTTCGACT	0.428000													14	19					4.36969e-10	5.84133e-10	0.435327	1	0
TMEM31	203562	broad.mit.edu	37	X	102968620	102968620	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:102968620G>C	ENST00000319560.6	+	3	392	c.201G>C	c.(199-201)acG>acC	p.T67T	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	67						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						GCGACAGAACGATCAACCTTC	0.483000													120	178					0	0	0.870114	0	0
MUC17	140453	broad.mit.edu	37	7	100676089	100676089	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:100676089G>A	ENST00000306151.4	+	3	1456	c.1392G>A	c.(1390-1392)gtG>gtA	p.V464V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	464	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)					CCACTCCAGTGGCCAGTTCTG	0.493000													22	304					0	0	0.769981	0	0
TMEM132D	121256	broad.mit.edu	37	12	129569092	129569092	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:129569092G>T	ENST00000422113.2	-	6	1925	c.1599C>A	c.(1597-1599)acC>acA	p.T533T	TMEM132D_ENST00000389441.4_Silent_p.T71T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	533						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GATTGAGCTCGGTGTCGGAGA	0.597000													4	13					0.014758	0.0153809	0.184627	1	0
TUSC3	7991	broad.mit.edu	37	8	15601106	15601106	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:15601106G>T	ENST00000382020.4	+	8	1130	c.922G>T	c.(922-924)Gtt>Ttt	p.V308F	TUSC3_ENST00000506802.1_Missense_Mutation_p.V308F|TUSC3_ENST00000503731.1_Missense_Mutation_p.V308F	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	308					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GAAAGGCGATGTTGGAAAAAG	0.393000													36	77					5.20837e-25	8.57338e-25	0.840704	1	0
GRM8	2918	broad.mit.edu	37	7	126542658	126542658	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:126542658T>A	ENST00000339582.2	-	6	1902	c.1094A>T	c.(1093-1095)gAg>gTg	p.E365V	GRM8_ENST00000444921.2_Missense_Mutation_p.E365V|GRM8_ENST00000405249.1_Missense_Mutation_p.E365V|GRM8_ENST00000358373.3_Missense_Mutation_p.E365V|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	365					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCCAAAATTCTCCTCCCAGAA	0.383000										HNSCC(24;0.065)			13	32					0	0	0.435327	0	0
OGDHL	55753	broad.mit.edu	37	10	50952077	50952077	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:50952077G>T	ENST00000374103.4	-	14	1909	c.1824C>A	c.(1822-1824)gcC>gcA	p.A608A	OGDHL_ENST00000432695.1_Silent_p.A399A|OGDHL_ENST00000419399.1_Silent_p.A551A	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	608					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCACAGAGCTGGCCACACTGC	0.617000													5	19					0.00116845	0.00126487	0.217242	1	0
ASTN1	460	broad.mit.edu	37	1	177001964	177001964	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:177001964G>T	ENST00000367654.2	-	3	506	c.493C>A	c.(493-495)Ctg>Atg	p.L165M	ASTN1_ENST00000361833.2_Missense_Mutation_p.L165M|ASTN1_ENST00000367657.3_Missense_Mutation_p.L165M|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.L165M			O14525	ASTN1_HUMAN	astrotactin 1	165					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AAGATGGACAGCAGCAGAGCG	0.597000													14	48					3.52763e-06	4.21558e-06	0.520397	1	0
SCN2A	6326	broad.mit.edu	37	2	166245669	166245669	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:166245669G>T	ENST00000357398.3	+	27	5643	c.5353G>T	c.(5353-5355)Gaa>Taa	p.E1785*	SCN2A_ENST00000375427.2_Nonsense_Mutation_p.E1785*|SCN2A_ENST00000283256.6_Nonsense_Mutation_p.E1785*|SCN2A_ENST00000375437.2_Nonsense_Mutation_p.E1785*			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1785					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGCTACTGAAGAAAGTGCAGA	0.438000													30	127					3.66854e-30	6.2029e-30	0.834066	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33637734	33637734	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:33637734G>T	ENST00000504830.1	-	12	2171	c.1836C>A	c.(1834-1836)gaC>gaA	p.D612E	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D612E|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	612	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGGGAACAGTGTCAAATTCAC	0.468000										HNSCC(64;0.19)			15	118					2.32078e-09	3.05855e-09	0.479597	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57872366	57872366	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:57872366G>T	ENST00000393797.2	-	6	896	c.704C>A	c.(703-705)tCc>tAc	p.S235Y	ARHGAP9_ENST00000356411.2_Missense_Mutation_p.S164Y|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.S164Y|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.S164Y|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.S243Y			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	164	WW.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTGGGAGAGGGATCTTCCGCT	0.577000													8	102					4.68919e-08	5.99174e-08	0.361761	1	0
SLC25A47	283600	broad.mit.edu	37	14	100792133	100792133	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:100792133G>T	ENST00000361529.3	+	2	115	c.37G>T	c.(37-39)Ggt>Tgt	p.G13C	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	13					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						AGGCGTCTGCGGTGTTGCTGT	0.637000													5	12					0.184627	0.186516	0.184627	1	0
TIGD7	91151	broad.mit.edu	37	16	3350041	3350041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:3350041G>A	ENST00000396862.1	-	2	2402	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TIGD7_ENST00000268674.2_Nonsense_Mutation_p.Q192*	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	192	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ctacttgcctgagaattttct	0.388000													17	41					0	0	0.575678	0	0
ZAN	7455	broad.mit.edu	37	7	100336203	100336203	+	RNA	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:100336203G>A	ENST00000542585.1	+	0	881				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAAGCCAGGCGTGGGGCCTGA	0.562000													3	12					0	0	0.150653	0	0
AFF2	2334	broad.mit.edu	37	X	147967464	147967464	+	Silent	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:147967464T>A	ENST00000370460.2	+	8	1787	c.1308T>A	c.(1306-1308)ctT>ctA	p.L436L	AFF2_ENST00000370458.1_Silent_p.L397L|AFF2_ENST00000286437.5_Silent_p.L77L|AFF2_ENST00000342251.3_Silent_p.L403L|AFF2_ENST00000370457.5_Silent_p.L403L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	436					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGATGACCTTGAGCCTGTGA	0.483000													236	177					0	0	0.870114	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880372	74880372	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:74880372G>A	ENST00000289575.5	+	5	998	c.603G>A	c.(601-603)gtG>gtA	p.V201V	SLCO2B1_ENST00000428359.2_Silent_p.V179V|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000525650.1_Silent_p.V57V|SLCO2B1_ENST00000532236.1_Silent_p.V85V|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000454962.2_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	201			V -> M (in dbSNP:rs35199625).		sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TGCTGGGCGTGGGCGGGGTGC	0.602000													7	19					0	0	0.278610	0	0
UPF3A	65110	broad.mit.edu	37	13	115048347	115048347	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:115048347A>G	ENST00000375299.3	+	3	406	c.350A>G	c.(349-351)aAt>aGt	p.N117S	UPF3A_ENST00000351487.5_Missense_Mutation_p.N117S	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	117	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCATACATTAATTTTAGGAAT	0.313000													20	4					0	0	0.639603	0	0
SYT4	6860	broad.mit.edu	37	18	40853859	40853859	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:40853859C>A	ENST00000255224.3	-	2	903	c.535G>T	c.(535-537)Ggc>Tgc	p.G179C	SYT4_ENST00000590752.1_Missense_Mutation_p.G161C|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	179	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GCTGGCAAGCCACGGGCTTCC	0.443000													9	9					0.00010058	0.000113414	0.411799	1	0
MAGEC1	9947	broad.mit.edu	37	X	140996309	140996309	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:140996309C>A	ENST00000285879.4	+	4	3405	c.3119C>A	c.(3118-3120)cCc>cAc	p.P1040H	MAGEC1_ENST00000406005.2_Missense_Mutation_p.P107H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1040	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGGGGAGCCCAGGGAGCTC	0.552000										HNSCC(15;0.026)			79	85					4.493e-44	7.82546e-44	0.870114	1	0
PTENP1	11191	broad.mit.edu	37	9	33676092	33676092	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:33676092C>A	ENST00000532280.1	-	0	1405					NR_023917.1																						GTCTATAATCCACATGATTCT	0.428000													34	80					3.03874e-20	4.83606e-20	0.779181	1	0
DCHS2	54798	broad.mit.edu	37	4	155287496	155287496	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:155287496C>G	ENST00000357232.3	-	5	559	c.560G>C	c.(559-561)aGt>aCt	p.S187T	DCHS2_ENST00000339452.1_Missense_Mutation_p.S781T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	187	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGTCTCATCACTGATGCTCGT	0.502000													3	22					0	0	0.115264	0	0
NOS3	4846	broad.mit.edu	37	7	150698505	150698505	+	Missense_Mutation	SNP	C	C	G	rs145805216		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:150698505C>G	ENST00000297494.3	+	11	1777	c.1420C>G	c.(1420-1422)Cgc>Ggc	p.R474G	NOS3_ENST00000461406.1_Missense_Mutation_p.R268G|NOS3_ENST00000467517.1_Missense_Mutation_p.R474G|NOS3_ENST00000484524.1_Missense_Mutation_p.R474G	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	474	Interaction with NOSIP.		R -> C (in a colorectal cancer sample; somatic mutation).		anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R474C(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCCGGCCTTCCGCTACCAGGT	0.597000													4	12					0	0	0.217242	0	0
SERPINE2	5270	broad.mit.edu	37	2	224847442	224847442	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:224847442G>T	ENST00000409840.3	-	7	1601	c.941C>A	c.(940-942)aCt>aAt	p.T314N	SERPINE2_ENST00000258405.4_Missense_Mutation_p.T314N|SERPINE2_ENST00000409304.1_Missense_Mutation_p.T314N|SERPINE2_ENST00000447280.2_Missense_Mutation_p.T326N			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	314					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAACATGTCAGTAATGCCAAG	0.343000													5	15					0.0381472	0.039294	0.278610	1	0
GALNT13	114805	broad.mit.edu	37	2	155265518	155265518	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:155265518A>T	ENST00000392825.3	+	11	1886	c.1319A>T	c.(1318-1320)cAg>cTg	p.Q440L	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.Q440L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	440	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GAAACCAATCAGTGTTTAGAC	0.368000													38	37					0	0	0.859065	0	0
ENPP3	5169	broad.mit.edu	37	6	131995303	131995303	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:131995303G>T	ENST00000414305.1	+	9	972	c.642_splice	c.e9-1	p.G215_splice	ENPP3_ENST00000427148.2_Splice_Site_p.G181_splice|ENPP3_ENST00000543135.1_Splice_Site_p.G181_splice|ENPP3_ENST00000358229.5_Splice_Site_p.G215_splice|ENPP3_ENST00000357639.3_Splice_Site_p.G215_splice|ENPP3_ENST00000470930.1_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	215	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TCATTTTAGGGCTTGTATCCA	0.279000													12	4					3.07112e-06	3.67265e-06	0.387290	1	0
TP53	7157	broad.mit.edu	37	17	7577506	7577506	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:7577506C>A	ENST00000420246.2	-	7	907	c.775G>T	c.(775-777)Gac>Tac	p.D259Y	TP53_ENST00000269305.4_Missense_Mutation_p.D259Y|TP53_ENST00000413465.2_Missense_Mutation_p.D259Y|TP53_ENST00000359597.4_Missense_Mutation_p.D259Y|TP53_ENST00000445888.2_Missense_Mutation_p.D259Y|TP53_ENST00000455263.2_Missense_Mutation_p.D259Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	259	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in a sporadic cancer; 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 -> S (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.D259Y(21)|p.0?(8)|p.D259N(6)|p.D259fs*5(3)|p.D259fs*86(3)|p.D259F(3)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(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)		GACCTGGAGTCTTCCAGTGTG	0.582000		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)			24	5					6.32553e-13	9.03878e-13	0.681144	1	0
COL25A1	84570	broad.mit.edu	37	4	109780836	109780836	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:109780836G>T	ENST00000399132.1	-	24	1826	c.1296C>A	c.(1294-1296)aaC>aaA	p.N432K	COL25A1_ENST00000399126.1_Missense_Mutation_p.N432K|COL25A1_ENST00000399127.1_Missense_Mutation_p.N413K	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	432						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)		GGAGGTTGCCGTTGTAGTCTA	0.483000													14	18					1.49906e-05	1.75763e-05	0.457914	1	0
RYR3	6263	broad.mit.edu	37	15	34038351	34038351	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:34038351C>G	ENST00000389232.4	+	53	8052	c.7982C>G	c.(7981-7983)aCg>aGg	p.T2661R	RYR3_ENST00000415757.3_Missense_Mutation_p.T2661R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2661	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGACATTAACGGAGAAGGTA	0.448000													6	6					0	0	0.248553	0	0
RENBP	5973	broad.mit.edu	37	X	153209531	153209531	+	Splice_Site	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:153209531C>T	ENST00000412763.1	-	3	383		c.e3+1		RENBP_ENST00000369997.3_Intron|RENBP_ENST00000393700.3_Splice_Site			P51606	RENBP_HUMAN	renin binding protein						mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GAACACCATACCTGCCTCCCC	0.617000													4	8					0	0	0.150653	0	0
ATP1A3	478	broad.mit.edu	37	19	42479787	42479787	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:42479787C>A	ENST00000545399.1	-	16	2449	c.2296G>T	c.(2296-2298)Gag>Tag	p.E766*	ATP1A3_ENST00000543770.1_Nonsense_Mutation_p.E764*|ATP1A3_ENST00000602133.1_Nonsense_Mutation_p.E723*|ATP1A3_ENST00000302102.5_Nonsense_Mutation_p.E753*	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	753					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCACCCTCCTCCACCCCTGTG	0.637000													94	28					1.77424e-55	3.11606e-55	0.870114	1	0
AUNIP	79000	broad.mit.edu	37	1	26162282	26162282	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:26162282G>A	ENST00000374298.3	-	3	330	c.276C>T	c.(274-276)atC>atT	p.I92I	AUNIP_ENST00000538789.1_Silent_p.I92I|AUNIP_ENST00000481602.1_Intron	NM_024037.1	NP_076942.1			aurora kinase A and ninein interacting protein																		ACTCTTTGTTGATCTGACTTT	0.423000													19	19					0	0	0.592651	0	0
NIN	51199	broad.mit.edu	37	14	51224111	51224111	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:51224111C>A	ENST00000245441.5	-	18	3827	c.3637G>T	c.(3637-3639)Gac>Tac	p.D1213Y	NIN_ENST00000382041.3_Missense_Mutation_p.D1213Y|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.D1213Y|NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.D1213Y|NIN_ENST00000324330.9_Missense_Mutation_p.D1213Y	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1213					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CGATCACAGTCCGCACATAAC	0.423000			T	PDGFRB	MPD								15	98					3.45872e-05	4.0022e-05	0.500413	1	0
SLC22A16	85413	broad.mit.edu	37	6	110752467	110752467	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:110752467C>A	ENST00000368919.3	-	7	1494	c.1428G>T	c.(1426-1428)ctG>ctT	p.L476L	SLC22A16_ENST00000330550.4_Silent_p.L442L|SLC22A16_ENST00000439654.1_Silent_p.L476L	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	476					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TTCCCACAGCCAGCGATCTGG	0.587000													37	6					3.05275e-18	4.76353e-18	0.864702	1	0
MED12L	116931	broad.mit.edu	37	3	151097983	151097983	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:151097983C>G	ENST00000474524.1	+	30	4494	c.4456C>G	c.(4456-4458)Cta>Gta	p.L1486V	MED12L_ENST00000273432.4_Missense_Mutation_p.L1346V|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1486					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAAGGCCTCCTAACATCTCT	0.368000													74	35					0	0	0.870114	0	0
GPR112	139378	broad.mit.edu	37	X	135431852	135431852	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:135431852C>A	ENST00000394143.1	+	6	6278	c.5987C>A	c.(5986-5988)aCt>aAt	p.T1996N	GPR112_ENST00000394141.1_Missense_Mutation_p.T1791N|GPR112_ENST00000287534.4_Missense_Mutation_p.T1933N|GPR112_ENST00000412101.1_Missense_Mutation_p.T1791N|GPR112_ENST00000370652.1_Missense_Mutation_p.T1996N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1996					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTGGTGCCACTTCAGGATCT	0.468000													53	103					3.07002e-29	5.15972e-29	0.870114	1	0
FGF6	2251	broad.mit.edu	37	12	4554566	4554566	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:4554566C>A	ENST00000228837.2	-	1	214	c.171G>T	c.(169-171)ctG>ctT	p.L57L		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	57					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			ACCTGGACAGCAGGGTGCCCC	0.642000													7	33					3.86212e-05	4.4293e-05	0.361761	1	0
NR0B1	190	broad.mit.edu	37	X	30326950	30326950	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:30326950G>T	ENST00000378970.4	-	1	765	c.531C>A	c.(529-531)ttC>ttA	p.F177L	NR0B1_ENST00000453287.1_Missense_Mutation_p.F177L	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	177	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCCTCTGCGCGAAGTAGGAGC	0.677000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	7					3.27435e-08	4.19347e-08	0.457914	1	0
GLI1	2735	broad.mit.edu	37	12	57865110	57865110	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:57865110G>C	ENST00000228682.2	+	12	2678	c.2587G>C	c.(2587-2589)Ggc>Cgc	p.G863R	GLI1_ENST00000543426.1_Missense_Mutation_p.G735R|GLI1_ENST00000546141.1_Missense_Mutation_p.G822R	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	863					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCTCCAGTCAGGCCCCTATAC	0.602000													10	32					0	0	0.361761	0	0
MT-CYB	4519	broad.mit.edu	37	MT	15657	15657	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrM:15657T>C	ENST00000361789.2	+	1	911	c.911T>C	c.(910-912)aTc>aCc	p.304_304insT						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CCTAGCAATAATCCCCATCCT	0.443000											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	4	270					0	0	0.248553	0	0
VSIG10	54621	broad.mit.edu	37	12	118504445	118504445	+	Nonstop_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:118504445C>A	ENST00000359236.5	-	9	1898	c.1622G>T	c.(1621-1623)tGa>tTa	p.*541L		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	0						integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TCCTCTTCTTCAGACTGGCCT	0.478000													36	187					1.52319e-26	2.51715e-26	0.840704	1	0
CEACAM18	729767	broad.mit.edu	37	19	51983727	51983727	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:51983727G>C	ENST00000396477.4	+	2	214	c.193G>C	c.(193-195)Gca>Cca	p.A65P	CEACAM18_ENST00000451626.1_Missense_Mutation_p.A126P	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	126						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTACTGGGGTGCAAACGACAG	0.552000													3	22					0	0	0.115264	0	0
ZIC3	7547	broad.mit.edu	37	X	136649480	136649480	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:136649480C>T	ENST00000287538.5	+	1	1180	c.630C>T	c.(628-630)taC>taT	p.Y210Y	ZIC3_ENST00000370606.3_Silent_p.Y210Y	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	210					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGGACCCCTACGCGGCCGGCG	0.662000													6	13					0	0	0.278610	0	0
DST	667	broad.mit.edu	37	6	56480811	56480811	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:56480811C>A	ENST00000370765.6	-	24	7561	c.7454G>T	c.(7453-7455)aGt>aTt	p.S2485I	DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1781					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCCCCCTGTACTGACTTGGGC	0.522000													28	72					1.74807e-11	2.42563e-11	0.750413	1	0
ZNF700	90592	broad.mit.edu	37	19	12059662	12059662	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:12059662G>T	ENST00000482090.1	+	3	1187	c.769G>T	c.(769-771)Gag>Tag	p.E257*	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Nonsense_Mutation_p.E275*|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCACACTGGGGAGAAGCCCTA	0.373000													19	8					4.35082e-09	5.69814e-09	0.592651	1	0
NTRK3	4916	broad.mit.edu	37	15	88678516	88678516	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:88678516C>A	ENST00000394480.1	-	10	1341	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H	NTRK3_ENST00000540489.2_Missense_Mutation_p.Q340H|NTRK3_ENST00000360948.2_Missense_Mutation_p.Q340H|NTRK3_ENST00000542733.2_Missense_Mutation_p.Q242H|NTRK3_ENST00000317501.3_Missense_Mutation_p.Q340H|NTRK3_ENST00000357724.2_Missense_Mutation_p.Q340H|NTRK3_ENST00000355254.2_Missense_Mutation_p.Q340H|NTRK3_ENST00000558676.1_Missense_Mutation_p.Q340H|NTRK3_ENST00000557856.1_Missense_Mutation_p.Q340H	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	340	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCCGCAGAGGCTGCCCATTGT	0.587000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			24	10					7.76418e-22	1.25347e-21	0.693898	1	0
PAX7	5081	broad.mit.edu	37	1	19062125	19062125	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:19062125G>T	ENST00000420770.2	+	8	1238		c.e8-1		PAX7_ENST00000375375.3_Splice_Site|PAX7_ENST00000400661.3_Splice_Site	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7						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)		TTTCCCCACAGGTGATGAGCA	0.637000			T	FOXO1A	alveolar rhabdomyosarcoma								18	19					1.55795e-14	2.27658e-14	0.608945	1	0
BOC	91653	broad.mit.edu	37	3	112998277	112998277	+	Silent	SNP	C	C	G	rs149565679		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:112998277C>G	ENST00000495514.1	+	12	2699	c.1995C>G	c.(1993-1995)tcC>tcG	p.S665S	BOC_ENST00000355385.3_Silent_p.S665S|BOC_ENST00000273395.4_Silent_p.S666S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	665	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CGCGGCTGTCCGTGGAGATCA	0.622000													4	13					0	0	0.184627	0	0
GAK	2580	broad.mit.edu	37	4	891903	891903	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:891903C>A	ENST00000314167.4	-	6	679	c.569G>T	c.(568-570)tGt>tTt	p.C190F	GAK_ENST00000511163.1_Missense_Mutation_p.C111F	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	190	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCCAAAGTCACACAGCTTAAT	0.547000													18	25					7.41877e-09	9.61863e-09	0.608945	1	0
MST1L	11223	broad.mit.edu	37	1	17083485	17083485	+	RNA	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:17083485A>G	ENST00000455405.2	-	0	1103																											acttgtattgataaggcaaaa	0.373000													6	2					0	0	0.217242	0	0
MED12L	116931	broad.mit.edu	37	3	151093991	151093991	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:151093991C>A	ENST00000474524.1	+	26	3975	c.3937C>A	c.(3937-3939)Cgt>Agt	p.R1313S	MED12L_ENST00000273432.4_Missense_Mutation_p.R1173S|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1313					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCACATTAAGCGTATTCTTCA	0.363000													4	66					0.014758	0.0153809	0.184627	1	0
CCDC149	91050	broad.mit.edu	37	4	24838087	24838087	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:24838087G>T	ENST00000504487.1	-	7	712	c.706C>A	c.(706-708)Ctc>Atc	p.L236I	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000389609.4_Missense_Mutation_p.L236I|CCDC149_ENST00000502801.1_Intron	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	236										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				GATTTCAAGAGGTTGACCTCT	0.353000													74	126					7.31121e-38	1.26032e-37	0.870114	1	0
GOLGA4	2803	broad.mit.edu	37	3	37379195	37379195	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:37379195G>T	ENST00000361924.2	+	19	6740	c.6366G>T	c.(6364-6366)tcG>tcT	p.S2122S	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.S2137S	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2122					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.S2122S(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCAGTGATTCGAAATTGAAAG	0.368000													8	18					0.335167	0.33758	0.335167	1	0
MSL3	10943	broad.mit.edu	37	X	11790814	11790814	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:11790814C>G	ENST00000380693.3	+	11	1595	c.958C>G	c.(958-960)Ctc>Gtc	p.L320V	MSL3_ENST00000312196.4_Missense_Mutation_p.L486V|MSL3_ENST00000361672.2_Missense_Mutation_p.L337V|MSL3_ENST00000398527.2_Missense_Mutation_p.L474V	NM_006800.3	NP_006791.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	486					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GCACTTTGATCTCTTTTTGAG	0.358000													14	19					0	0	0.457914	0	0
MT-ND4	4538	broad.mit.edu	37	MT	11453	11453	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrM:11453G>A	ENST00000361381.2	+	1	694	c.694G>A	c.(694-696)Gcc>Acc	p.232_232insT						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CAATAGTACTTGCCGCAGTAC	0.453000													22	208					0	0	0.667858	0	0
DRP2	1821	broad.mit.edu	37	X	100496798	100496798	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:100496798T>A	ENST00000395209.3	+	7	1228	c.701T>A	c.(700-702)tTg>tAg	p.L234*	DRP2_ENST00000402866.1_Nonsense_Mutation_p.L234*|DRP2_ENST00000541709.1_Nonsense_Mutation_p.L156*|DRP2_ENST00000538510.1_Nonsense_Mutation_p.L234*	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	234					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GAGCAGCTCTTGGAGATTCAA	0.562000													4	21					0	0	0.217242	0	0
KRT71	112802	broad.mit.edu	37	12	52946607	52946607	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:52946607G>T	ENST00000267119.5	-	1	324	c.255C>A	c.(253-255)ggC>ggA	p.G85G		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	85	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GGGCCACACTGCCAAACATGC	0.642000													15	26					4.14922e-12	5.82974e-12	0.500413	1	0
ABCB5	340273	broad.mit.edu	37	7	20683184	20683184	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:20683184G>T	ENST00000404938.2	+	7	1259	c.607G>T	c.(607-609)Ggc>Tgc	p.G203C		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	389					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTTGGTGAAGGGCTGGAAACT	0.428000													12	63					0.000978159	0.00106506	0.387290	1	0
CCDC28B	79140	broad.mit.edu	37	1	32670241	32670241	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:32670241C>A	ENST00000421922.2	+	5	668	c.568C>A	c.(568-570)Cgt>Agt	p.R190S	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCAAGGAACCCGTCTATGTGT	0.512000													25	78					7.11191e-15	1.05113e-14	0.769981	1	0
MDH1B	130752	broad.mit.edu	37	2	207610350	207610350	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:207610350T>A	ENST00000374412.3	-	9	1679	c.1404A>T	c.(1402-1404)caA>caT	p.Q468H	MDH1B_ENST00000392214.2_Missense_Mutation_p.Q255H|MDH1B_ENST00000449792.1_Missense_Mutation_p.Q370H|MDH1B_ENST00000454776.2_Missense_Mutation_p.Q468H	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	468					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GCTTACCTGATTGGTATGGCT	0.299000													8	13					0	0	0.411799	0	0
XIRP1	165904	broad.mit.edu	37	3	39228314	39228314	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:39228314C>T	ENST00000340369.3	-	2	2851	c.2623G>A	c.(2623-2625)Gac>Aac	p.D875N	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.D875N	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	875							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGCTCAGGGTCCATGTCTTCA	0.627000													6	9					0	0	0.335167	0	0
NEURL4	84461	broad.mit.edu	37	17	7220677	7220677	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:7220677A>G	ENST00000399464.2	-	28	4346	c.4331T>C	c.(4330-4332)aTc>aCc	p.I1444T	RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.S258P|NEURL4_ENST00000315614.7_Missense_Mutation_p.I1442T|NEURL4_ENST00000570460.1_Missense_Mutation_p.I1420T|NEURL4_ENST00000574120.1_5'UTR	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCTCAGGATGGAGGCAGT	0.622000													4	20					0	0	0.217242	0	0
RNGTT	8732	broad.mit.edu	37	6	89479548	89479548	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:89479548G>A	ENST00000369485.4	-	13	1570	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S	RNGTT_ENST00000538899.1_Missense_Mutation_p.P379S|RNGTT_ENST00000265607.6_Missense_Mutation_p.P439S|RNGTT_ENST00000369475.3_Missense_Mutation_p.P462S	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	462	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTCAGACTGGGAGGCTTCCAT	0.323000													3	8					0	0	0.150653	0	0
PDE4B	5142	broad.mit.edu	37	1	66829204	66829204	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:66829204G>T	ENST00000423207.2	+	10	1674	c.1189G>T	c.(1189-1191)Gct>Tct	p.A397S	PDE4B_ENST00000371049.3_Missense_Mutation_p.A412S|PDE4B_ENST00000480109.2_Missense_Mutation_p.A179S|PDE4B_ENST00000371045.5_Missense_Mutation_p.A240S|PDE4B_ENST00000329654.4_Missense_Mutation_p.A412S	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	412					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CCTGCACGCTGCTGATGTAGC	0.428000													9	13					0.000978159	0.00106506	0.387290	1	0
ZNF14	7561	broad.mit.edu	37	19	19822426	19822426	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:19822426C>A	ENST00000344099.3	-	4	1802	c.1664G>T	c.(1663-1665)gGa>gTa	p.G555V		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				CGGTTTCTCTCCAGTGTGAGT	0.408000													11	13					1.08611e-07	1.37525e-07	0.387290	1	0
RFTN2	130132	broad.mit.edu	37	2	198460720	198460720	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:198460720G>T	ENST00000295049.3	-	8	1764	c.1228C>A	c.(1228-1230)Cca>Aca	p.P410T		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	410						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CTCACATCTGGTGTTTGAGCA	0.343000													4	12					0.00909568	0.00952692	0.150653	1	0
WBSCR27	155368	broad.mit.edu	37	7	73249192	73249192	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:73249192C>T	ENST00000297873.4	-	6	668	c.619G>A	c.(619-621)Gct>Act	p.A207T		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	207										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				CAGCTCCCAGCGGTCCACAGG	0.627000													3	16					0	0	0.217242	0	0
LIN28B	389421	broad.mit.edu	37	6	105526482	105526482	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:105526482C>G	ENST00000345080.4	+	4	780	c.577C>G	c.(577-579)Cga>Gga	p.R193G		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	193					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AACTCTCCCTCGAGAAGTGGG	0.557000													17	15					0	0	0.592651	0	0
PTCHD1	139411	broad.mit.edu	37	X	23353297	23353297	+	Missense_Mutation	SNP	A	A	T	rs138264321		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:23353297A>T	ENST00000379361.4	+	1	1165	c.305A>T	c.(304-306)cAg>cTg	p.Q102L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	102					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ACCTCCTTCCAGAAAGCCAAC	0.657000													8	15					0	0	0.307466	0	0
PDGFRA	5156	broad.mit.edu	37	4	55144560	55144560	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:55144560C>T	ENST00000257290.5	+	15	2365	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	FIP1L1_ENST00000507166.1_Silent_p.F438F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	678	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.F678L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGTATTGCTTCTATGGAGATT	0.433000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			6	62					0	0	0.248553	0	0
LSM11	134353	broad.mit.edu	37	5	157178528	157178528	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:157178528C>A	ENST00000286307.5	+	2	635	c.579C>A	c.(577-579)ttC>ttA	p.F193L		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	193	SM 1.				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCGACAAGTTCTGGAATATGG	0.438000													24	47					1.55469e-16	2.37735e-16	0.654019	1	0
ALMS1P	200420	broad.mit.edu	37	2	73902015	73902015	+	RNA	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:73902015G>A	ENST00000450720.1	+	0	968					NR_003683.2																						AGAAGGAAATGATTCAGAGGT	0.468000													4	46					0	0	0.248553	0	0
COL6A6	131873	broad.mit.edu	37	3	130318619	130318619	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:130318619G>T	ENST00000358511.6	+	19	4649	c.4618G>T	c.(4618-4620)Ggc>Tgc	p.G1540C	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1540C	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1540	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGGCTGGCCAGGCCCCCCCGG	0.502000													8	14					4.68919e-08	5.99174e-08	0.361761	1	0
LINC01317	104355287	broad.mit.edu	37	2	33952275	33952275	+	RNA	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:33952275A>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							TGGACACCATACTTCTCGTTG	0.592000													8	18					0	0	0.335167	0	0
APPL1	26060	broad.mit.edu	37	3	57303660	57303660	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:57303660A>T	ENST00000288266.3	+	22	2222	c.2075A>T	c.(2074-2076)cAg>cTg	p.Q692L	ASB14_ENST00000487349.1_Intron|ASB14_ENST00000389601.3_Intron	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	692					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AGCAGTAGCCAGTCAGAAGAG	0.443000													21	24					0	0	0.624587	0	0
PDE11A	50940	broad.mit.edu	37	2	178592849	178592849	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:178592849C>G	ENST00000286063.5	-	11	2157	c.1840G>C	c.(1840-1842)Gat>Cat	p.D614H	PDE11A_ENST00000409504.1_Missense_Mutation_p.D256H|PDE11A_ENST00000449286.2_Missense_Mutation_p.D256H|PDE11A_ENST00000358450.4_Missense_Mutation_p.D364H|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Missense_Mutation_p.D170H	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	614					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GAAAAGTCATCAAAATGAATG	0.443000									Primary Pigmented Nodular Adrenocortical Disease, Familial				5	53					0	0	0.184627	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128951	68128951	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:68128951C>G	ENST00000585558.1	+	4	1216	c.828C>G	c.(826-828)gtC>gtG	p.V276V	KCNJ16_ENST00000283936.1_Silent_p.V241V|KCNJ16_ENST00000392671.1_Silent_p.V241V|KCNJ16_ENST00000392670.1_Silent_p.V241V|KCNJ16_ENST00000589377.1_Silent_p.V241V|KCNJ16_ENST00000586462.1_Silent_p.V280V			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	241					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TCAAATTAGTCAACGACCAAA	0.468000													26	272					0	0	0.693898	0	0
ABTB1	80325	broad.mit.edu	37	3	127393268	127393268	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:127393268G>T	ENST00000232744.8	+	2	177	c.91G>T	c.(91-93)Gtg>Ttg	p.V31L	ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000468137.1_Intron|ABTB1_ENST00000466612.1_3'UTR|ABTB1_ENST00000453791.2_Intron			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	31						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GGAGGTGAATGTGCGGGACAA	0.632000													5	13					3.09899e-07	3.85708e-07	0.307466	1	0
ATP10D	57205	broad.mit.edu	37	4	47589199	47589199	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:47589199C>T	ENST00000273859.3	+	22	4186	c.3917C>T	c.(3916-3918)aCg>aTg	p.T1306M		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1306					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGTATCCTCACGACGTCCATT	0.418000													19	84					0	0	0.592651	0	0
LRRC66	339977	broad.mit.edu	37	4	52861525	52861525	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:52861525C>A	ENST00000343457.3	-	4	1669	c.1663G>T	c.(1663-1665)Gtc>Ttc	p.V555F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	555						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ACAGAAGAGACGCCCACTGAA	0.512000													48	80					4.18559e-23	6.8163e-23	0.870114	1	0
SLC26A7	115111	broad.mit.edu	37	8	92401582	92401582	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:92401582C>A	ENST00000276609.3	+	16	1931	c.1692C>A	c.(1690-1692)tcC>tcA	p.S564S	SLC26A7_ENST00000523719.1_Silent_p.S564S|SLC26A7_ENST00000309536.2_Silent_p.S564S|SLC26A7_ENST00000520249.1_3'UTR	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	564	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTTCACAGTCCTGCCCTAATG	0.428000													60	63					9.61844e-40	1.66488e-39	0.870114	1	0
NRXN1	9378	broad.mit.edu	37	2	51254928	51254928	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:51254928G>T	ENST00000404971.1	-	2	1823	c.484C>A	c.(484-486)Ctg>Atg	p.L162M	NRXN1_ENST00000406316.2_Missense_Mutation_p.L162M|NRXN1_ENST00000405472.3_Missense_Mutation_p.L162M|NRXN1_ENST00000401669.2_Missense_Mutation_p.L162M|NRXN1_ENST00000402717.3_Missense_Mutation_p.L162M|NRXN1_ENST00000406859.3_Missense_Mutation_p.L162M|NRXN1_ENST00000405581.1_Missense_Mutation_p.L162M	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	162	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGGCGCGCAGTTCCGGGGGC	0.662000													3	9					0.115264	0.117575	0.115264	1	0
SOHLH2	54937	broad.mit.edu	37	13	36747898	36747898	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:36747898G>T	ENST00000379881.3	-	9	1019	c.931C>A	c.(931-933)Ctg>Atg	p.L311M	SOHLH2_ENST00000554962.1_Missense_Mutation_p.L388M|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.L388M	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTATTAGTCAGGAATTGGAGC	0.463000													15	41					4.14922e-12	5.82974e-12	0.500413	1	0
SPAG16	79582	broad.mit.edu	37	2	214215364	214215364	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:214215364G>T	ENST00000413312.1	+	6	910	c.664G>T	c.(664-666)Ggg>Tgg	p.G222W	SPAG16_ENST00000272898.7_Missense_Mutation_p.G253W|SPAG16_ENST00000374309.3_Missense_Mutation_p.G159W|SPAG16_ENST00000447990.1_Missense_Mutation_p.G253W|SPAG16_ENST00000331683.5_Missense_Mutation_p.G253W|SPAG16_ENST00000414961.2_Intron			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	253					cilium assembly	cilium axoneme|flagellar axoneme		p.G253W(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CAAAGTAGTTGGGCAGGTAAA	0.313000													27	64					7.26314e-15	1.0716e-14	0.717897	1	0
CBLN4	140689	broad.mit.edu	37	20	54579067	54579067	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:54579067C>A	ENST00000064571.2	-	1	1461	c.161G>T	c.(160-162)gGc>gTc	p.G54V		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	54						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GGAAGAGGAGCCCTTGGAGTC	0.677000													5	21					3.59834e-05	4.14376e-05	0.217242	1	0
CD6	923	broad.mit.edu	37	11	60777058	60777058	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:60777058C>A	ENST00000313421.7	+	5	982	c.796C>A	c.(796-798)Cgc>Agc	p.R266S	CD6_ENST00000545105.1_Intron|CD6_ENST00000352009.5_Missense_Mutation_p.R266S|CD6_ENST00000346437.4_Missense_Mutation_p.R266S|CD6_ENST00000344028.5_Missense_Mutation_p.R266S|CD6_ENST00000452451.2_Missense_Mutation_p.R266S	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	266	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CCAGTCCTGGCGCCTGACAGG	0.642000													4	6					0.014758	0.0153809	0.184627	1	0
MGAM	8972	broad.mit.edu	37	7	141722155	141722155	+	Silent	SNP	G	G	T	rs146615509	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:141722155G>T	ENST00000475668.2	+	7	852	c.798G>T	c.(796-798)ctG>ctT	p.L266L	MGAM_ENST00000549489.2_Silent_p.L266L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	266	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTATGGCCTGGGAGAGCATG	0.502000													28	101					1.74807e-11	2.42563e-11	0.750413	1	0
ANO5	203859	broad.mit.edu	37	11	22232823	22232823	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:22232823G>C	ENST00000324559.8	+	3	418	c.101G>C	c.(100-102)aGc>aCc	p.S34T		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	34						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCTGAGCAGCAGAGAGACC	0.423000													29	136					0	0	0.750413	0	0
HDAC9	9734	broad.mit.edu	37	7	18684300	18684300	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:18684300G>T	ENST00000406451.3	+	9	1060	c.910G>T	c.(910-912)Gtt>Ttt	p.V304F	HDAC9_ENST00000428307.2_Missense_Mutation_p.V260F|HDAC9_ENST00000406072.1_Missense_Mutation_p.V291F|HDAC9_ENST00000405010.3_Missense_Mutation_p.V304F|HDAC9_ENST00000401921.1_Missense_Mutation_p.V263F|HDAC9_ENST00000417496.2_Missense_Mutation_p.V302F|HDAC9_ENST00000456174.2_Missense_Mutation_p.V276F|HDAC9_ENST00000432645.2_Missense_Mutation_p.V304F|HDAC9_ENST00000441542.2_Missense_Mutation_p.V307F|HDAC9_ENST00000524023.1_Missense_Mutation_p.V227F	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	304	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACAGCAAATGGTTTCACAGCA	0.373000													19	54					1.10513e-12	1.57247e-12	0.624587	1	0
UBD	10537	broad.mit.edu	37	6	29524019	29524019	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:29524019G>T	ENST00000377050.4	-	2	359	c.136C>A	c.(136-138)Cag>Aag	p.Q46K	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	46	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						ACCTGGTCCTGCACAGGAACC	0.468000													11	73					3.86212e-05	4.4293e-05	0.361761	1	0
KRT31	3881	broad.mit.edu	37	17	39551497	39551497	+	Splice_Site	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:39551497C>T	ENST00000251645.2	-	5	928	c.876_splice	c.e5+1	p.L292_splice		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	292	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CAATACACACCAGGTTGTGCT	0.592000													6	72					0	0	0.278610	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102508568	102508568	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:102508568C>T	ENST00000360184.4	+	67	12382	c.12218C>T	c.(12217-12219)tCt>tTt	p.S4073F	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4073	AAA 6 (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						GCACCAGGCTCTGCAGAAGGC	0.542000													10	66					0	0	0.457914	0	0
CLCA2	9635	broad.mit.edu	37	1	86904742	86904742	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:86904742G>T	ENST00000370565.4	+	7	1318	c.1156G>T	c.(1156-1158)Gct>Tct	p.A386S		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	386	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CACTGTATCAGCTAAAACAGA	0.433000													23	52					1.55811e-20	2.48204e-20	0.729181	1	0
ABCB11	8647	broad.mit.edu	37	2	169781256	169781256	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:169781256G>A	ENST00000263817.6	-	27	3800	c.3676C>T	c.(3676-3678)Cgc>Tgc	p.R1226C		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1226	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ATAGCAATGCGTTGTTTCTCC	0.398000													5	28					0	0	0.217242	0	0
CPZ	8532	broad.mit.edu	37	4	8602996	8602996	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:8602996G>A	ENST00000360986.4	+	3	442	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.E79K	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	90	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCAGCTCCTGGAAGGCCAGTG	0.667000													6	15					0	0	0.278610	0	0
REG1P	5969	broad.mit.edu	37	2	79364477	79364477	+	RNA	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:79364477A>T	ENST00000444841.1	-	0	166																											TCCTGGGAAAAGAGAGACAAT	0.483000													5	8					0	0	0.217242	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567202	142567202	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:142567202C>A	ENST00000295992.3	-	3	611	c.305G>T	c.(304-306)cGc>cTc	p.R102L	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R102L	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	102	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCGGCCAATGCGCTGGCCATT	0.512000													46	27					1.47633e-17	2.28667e-17	0.870114	1	0
LRFN2	57497	broad.mit.edu	37	6	40399611	40399611	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:40399611G>A	ENST00000338305.6	-	2	1784	c.1242C>T	c.(1240-1242)ggC>ggT	p.G414G		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	414						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGGCTCTCCGCCCCCACTGC	0.652000													8	16					0	0	0.278610	0	0
SLC6A5	9152	broad.mit.edu	37	11	20652351	20652351	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:20652351G>C	ENST00000525748.1	+	10	1887	c.1614G>C	c.(1612-1614)gtG>gtC	p.V538V	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	538					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTGAGAATGTGGCAGACCAAG	0.517000													15	35					0	0	0.479597	0	0
BRINP3	339479	broad.mit.edu	37	1	190234118	190234118	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:190234118G>T	ENST00000367462.3	-	4	726	c.495C>A	c.(493-495)tcC>tcA	p.S165S	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.S63S|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		165						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TATTGGTGGTGGAATCACTTC	0.438000													9	52					2.17888e-05	2.53875e-05	0.335167	1	0
DTX1	1840	broad.mit.edu	37	12	113530994	113530994	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:113530994G>T	ENST00000257600.3	+	3	1472	c.969G>T	c.(967-969)ttG>ttT	p.L323F	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	323	Pro-rich.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGAAGAACTTGAATGGTACTG	0.682000													5	4					0.00116845	0.00126487	0.217242	1	0
AKAP4	8852	broad.mit.edu	37	X	49958251	49958251	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:49958251C>A	ENST00000376056.2	-	5	1236	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.L371F|AKAP4_ENST00000376064.3_Missense_Mutation_p.L362F|AKAP4_ENST00000376058.2_Intron			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	371					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGTGCCTTAGCAACACCCTCT	0.468000													20	27					4.96729e-08	6.33263e-08	0.575678	1	0
ABCC5	10057	broad.mit.edu	37	3	183665123	183665123	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:183665123A>G	ENST00000334444.6	-	23	3643	c.3403T>C	c.(3403-3405)Tat>Cat	p.Y1135H	ABCC5_ENST00000265586.6_Missense_Mutation_p.Y1092H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1135	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGGACAGCATAAGAGATGGCG	0.567000													17	7					0	0	0.575678	0	0
TTN	7273	broad.mit.edu	37	2	179429693	179429693	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:179429693T>C	ENST00000589042.1	-	326	81390	c.81166A>G	c.(81166-81168)Agt>Ggt	p.S27056G	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S18116G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S25415G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S24488G|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S18183G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S17991G|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25415	Fibronectin type-III 97.						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)			AGTGGGGCACTTTTTCCATAC	0.383000													14	80					0	0	0.500413	0	0
ANKRD66	100287718	broad.mit.edu	37	6	46721596	46721596	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:46721596G>T	ENST00000565422.1	+	4	471	c.466G>T	c.(466-468)Gct>Tct	p.A156S	ANKRD66_ENST00000536046.1_Missense_Mutation_p.A127S	NM_001162435.2	NP_001155907.2			ankyrin repeat domain 66																		TGCATTGCACGCTGCCATCGA	0.507000													2	1					0.0016	0.00172426	0.115264	1	0
IARS	3376	broad.mit.edu	37	9	94973092	94973092	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:94973092G>A	ENST00000375643.3	-	34	4052	c.3786C>T	c.(3784-3786)ttC>ttT	p.F1262F	IARS_ENST00000375629.3_3'UTR|IARS_ENST00000447699.2_Silent_p.F1152F|IARS_ENST00000443024.2_Silent_p.F1262F	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1262					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GTACATGCTAGAAGTCTGCTG	0.393000													8	18					0	0	0.307466	0	0
ABCB1	5243	broad.mit.edu	37	7	87173487	87173487	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:87173487G>T	ENST00000265724.3	-	18	2586	c.2169C>A	c.(2167-2169)ggC>ggA	p.G723G	ABCB1_ENST00000543898.1_Silent_p.G659G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	723	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTGGTTGCAGGCCTCCATTTA	0.358000													18	49					1.00905e-13	1.46051e-13	0.575678	1	0
IGHV3-20	28445	broad.mit.edu	37	14	106667610	106667610	+	RNA	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:106667610C>T	ENST00000390606.2	-	0	383																											GCCGTGTCCTCGGCTCTCAGA	0.562000													54	300					0	0	0.870114	0	0
CADPS	8618	broad.mit.edu	37	3	62860687	62860687	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:62860687G>A	ENST00000383710.4	-	1	367	c.18C>T	c.(16-18)tcC>tcT	p.S6S	CADPS_ENST00000490353.2_Silent_p.S6S|CADPS_ENST00000283269.9_Silent_p.S6S|CADPS_ENST00000357948.3_Silent_p.S6S	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	6					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTTCTTCGCTGGACGAAGGGT	0.692000													3	2					0	0	0.115264	0	0
PRDM16	63976	broad.mit.edu	37	1	3348615	3348615	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:3348615G>A	ENST00000378398.3	+	17	3689	c.3607G>A	c.(3607-3609)Gag>Aag	p.E1203K	PRDM16_ENST00000514189.1_Intron|PRDM16_ENST00000378391.2_Missense_Mutation_p.E1203K|PRDM16_ENST00000511072.1_Intron|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.E1202K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E1202K|PRDM16_ENST00000270722.5_Missense_Mutation_p.E1203K			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1203	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CAGAGCAGCTGAGGAAGCATT	0.522000			T	EVI1	"""MDS, AML"""								6	15					0	0	0.278610	0	0
CAMTA1	23261	broad.mit.edu	37	1	7796531	7796531	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:7796531G>C	ENST00000303635.7	+	13	3401	c.3194G>C	c.(3193-3195)gGa>gCa	p.G1065A	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G1065A	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1065					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACTTTCCGCGGAATGACCCTA	0.587000			T	WWTR1	epitheliod hemangioendothelioma								17	36					0	0	0.557998	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149389	142149389	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:142149389C>A	ENST00000390372.3	-	0	10																											AGCCCAGGGCCCATGGCACAG	0.602000													34	49					1.96642e-18	3.07413e-18	0.827153	1	0
SCN2A	6326	broad.mit.edu	37	2	166166888	166166888	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:166166888C>T	ENST00000357398.3	+	7	1043	c.753C>T	c.(751-753)gtC>gtT	p.V251V	SCN2A_ENST00000375427.2_Silent_p.V251V|SCN2A_ENST00000283256.6_Silent_p.V251V|SCN2A_ENST00000375437.2_Silent_p.V251V			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	251					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTTCTGATGTCATGATCTTGA	0.428000													27	151					0	0	0.717897	0	0
CSMD3	114788	broad.mit.edu	37	8	113243849	113243849	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:113243849G>A	ENST00000297405.5	-	69	10997	c.10753C>T	c.(10753-10755)Cct>Tct	p.P3585S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P3545S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P3515S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3416S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3585						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						GCTCCATCAGGCTCAGCAGAA	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	48					0	0	0.870114	0	0
ARV1	64801	broad.mit.edu	37	1	231114909	231114909	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:231114909G>T	ENST00000310256.2	+	1	115	c.58G>T	c.(58-60)Gca>Tca	p.A20S	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Missense_Mutation_p.A20S	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	20					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		GGATGGGGTGGCAGCGACTCC	0.602000													9	8					4.3838e-07	5.41604e-07	0.435327	1	0
MRAP2	112609	broad.mit.edu	37	6	84772655	84772655	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:84772655G>A	ENST00000257776.4	+	3	306	c.171G>A	c.(169-171)gtG>gtA	p.V57V		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	57					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTCTTCGTGATTTTTATGT	0.403000													20	41					0	0	0.608945	0	0
USP24	23358	broad.mit.edu	37	1	55589146	55589146	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:55589146C>A	ENST00000294383.6	-	36	4249	c.4250G>T	c.(4249-4251)tGc>tTc	p.C1417F	USP24_ENST00000407756.1_Missense_Mutation_p.C1257F	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1417					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAGCTGTAGGCACGTAACAAG	0.483000													17	46					2.27731e-05	2.64975e-05	0.608945	1	0
TTN	7273	broad.mit.edu	37	2	179499460	179499460	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:179499460C>A	ENST00000589042.1	-	229	42365	c.42141G>T	c.(42139-42141)ttG>ttT	p.L14047F	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L5107F|TTN_ENST00000591111.1_Missense_Mutation_p.L12406F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L11479F|TTN_ENST00000342175.6_Missense_Mutation_p.L5174F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L4982F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12406	Fibronectin type-III 1.						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)			CTTTTACTGTCAAAATGGCAG	0.418000													35	93					7.04047e-22	1.13772e-21	0.812448	1	0
TAF1A	9015	broad.mit.edu	37	1	222753119	222753119	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:222753119G>A	ENST00000350027.4	-	4	540	c.387C>T	c.(385-387)ggC>ggT	p.G129G	TAF1A_ENST00000391882.1_Silent_p.G15G|TAF1A_ENST00000366890.1_Silent_p.G15G|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000543857.1_Silent_p.G129G|TAF1A_ENST00000352967.4_Silent_p.G129G	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	129					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		AATTCATGACGCCAATATTTT	0.328000													6	84					0	0	0.278610	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889166	23889166	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:23889166G>T	ENST00000532292.1	-	1	2009	c.1915C>A	c.(1915-1917)Ccc>Acc	p.P639T		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTGCTGGTGGGGCCGTGGGCA	0.587000													8	0					0.000157383	0.000176164	0.278610	1	0
OR2G6	391211	broad.mit.edu	37	1	248685079	248685079	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:248685079C>A	ENST00000343414.4	+	1	164	c.132C>A	c.(130-132)gcC>gcA	p.A44A		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAACACTGCCCTCATACTAG	0.468000													26	87					1.17739e-12	1.67246e-12	0.693898	1	0
GPR112	139378	broad.mit.edu	37	X	135482021	135482021	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:135482021A>T	ENST00000394143.1	+	21	8612	c.8321A>T	c.(8320-8322)gAt>gTt	p.D2774V	GPR112_ENST00000394141.1_Missense_Mutation_p.D2569V|GPR112_ENST00000287534.4_Missense_Mutation_p.D2527V|GPR112_ENST00000412101.1_Missense_Mutation_p.D2569V|GPR112_ENST00000370652.1_Missense_Mutation_p.D2774V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2774					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTCGAAAAGATTATCCTGCC	0.328000													17	35					0	0	0.520397	0	0
COL7A1	1294	broad.mit.edu	37	3	48617238	48617238	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:48617238C>T	ENST00000328333.8	-	57	5241	c.5134G>A	c.(5134-5136)Gga>Aga	p.G1712R	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1712R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1712	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G1712R(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCCAGGTCCTGTGTCTACC	0.577000													8	9					0	0	0.307466	0	0
PRPF40A	55660	broad.mit.edu	37	2	153572544	153572544	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:153572544T>A	ENST00000410080.1	-	2	722	c.181A>T	c.(181-183)Atg>Ttg	p.M61L	PRPF40A_ENST00000486100.1_5'UTR	NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	88					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						GGGGGCATCATCTGCGGCATC	0.463000													20	57					0	0	0.681144	0	0
CFHR3	10878	broad.mit.edu	37	1	196749073	196749073	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:196749073T>A	ENST00000471440.2	+	3	474	c.400T>A	c.(400-402)Tgg>Agg	p.W134R	CFHR3_ENST00000391985.3_Missense_Mutation_p.W134R|CFHR3_ENST00000367425.4_Missense_Mutation_p.W134R					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GGAGAAAGGCTGGTCTCCTAC	0.493000													18	75					0	0	0.557998	0	0
AIFM1	9131	broad.mit.edu	37	X	129267393	129267393	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:129267393C>G	ENST00000287295.3	-	13	1573	c.1343G>C	c.(1342-1344)gGa>gCa	p.G448A	AIFM1_ENST00000440263.1_Missense_Mutation_p.G96A|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.G444A|AIFM1_ENST00000460436.2_Missense_Mutation_p.G109A|AIFM1_ENST00000346424.2_Missense_Mutation_p.G161A	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	448	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CCGCCTCCTTCCCAACTTTAT	0.423000													108	250					0	0	0.870114	0	0
POU3F4	5456	broad.mit.edu	37	X	82763695	82763695	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:82763695C>A	ENST00000373200.2	+	1	427	c.363C>A	c.(361-363)aaC>aaA	p.N121K	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	121					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CGGCACCGAACCCGTCTATCA	0.652000													3	25					8.12818e-05	9.19624e-05	0.248553	1	0
TAF1	6872	broad.mit.edu	37	X	70596935	70596935	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:70596935C>T	ENST00000449580.1	+	5	656	c.605C>T	c.(604-606)tCt>tTt	p.S202F	TAF1_ENST00000373790.4_Missense_Mutation_p.S202F|TAF1_ENST00000423759.1_Missense_Mutation_p.S223F|TAF1_ENST00000276072.3_Missense_Mutation_p.S223F			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	202	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAGGCAGAATCTGAAGATGGA	0.483000													43	61					0	0	0.864702	0	0
GBA3	57733	broad.mit.edu	37	4	22749369	22749369	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:22749369C>A	ENST00000508166.1	+	0	839				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTAAAAGAGCCATCACTTTC	0.433000													63	85					3.07184e-27	5.09646e-27	0.870114	1	0
TCHH	7062	broad.mit.edu	37	1	152080962	152080962	+	Silent	SNP	A	A	G	rs71585886		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:152080962A>G	ENST00000368804.1	-	2	4730	c.4731T>C	c.(4729-4731)cgT>cgC	p.R1577R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1577	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTTTCTGTCACGCTCTTGGC	0.592000													4	254					0	0	0.217242	0	0
FSIP2	401024	broad.mit.edu	37	2	186672891	186672891	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:186672891C>A	ENST00000343098.5	+	17	19125	c.19125C>A	c.(19123-19125)ggC>ggA	p.G6375G	FSIP2_ENST00000424728.1_Silent_p.G6286G	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATACAATAGGCTTTTTAATGG	0.318000													3	26					6.4e-05	7.28676e-05	0.115264	1	0
PGM5	5239	broad.mit.edu	37	9	71080084	71080084	+	Silent	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:71080084A>T	ENST00000396396.1	+	7	1348	c.1119A>T	c.(1117-1119)tcA>tcT	p.S373S	PGM5_ENST00000396392.1_Silent_p.S373S	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	373					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TGATGGACTCAGGACGTTGCA	0.468000													46	49					0	0	0.870114	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711443	155711443	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:155711443C>A	ENST00000295101.2	+	3	1601	c.1124C>A	c.(1123-1125)gCc>gAc	p.A375D	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	375					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATAGCACCAGCCATAACTAAC	0.418000													74	75					7.31121e-38	1.26032e-37	0.870114	1	0
TCL6	27004	broad.mit.edu	37	14	96135841	96135841	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:96135841C>A	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		gctgggattacaggcgtgagc	0.522000			T	TRA@	T-ALL								11	23					0.000978159	0.00106506	0.387290	1	0
OR52M1	119772	broad.mit.edu	37	11	4567179	4567179	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:4567179C>G	ENST00000360213.1	+	1	759	c.759C>G	c.(757-759)atC>atG	p.I253M		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I253I(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCCTGATCTTTTATGTTC	0.512000													61	49					0	0	0.870114	0	0
PXDNL	137902	broad.mit.edu	37	8	52258450	52258450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:52258450G>T	ENST00000356297.4	-	20	4059	c.3959C>A	c.(3958-3960)tCa>tAa	p.S1320*	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1320					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTATTGAGCTGAGCGTTTCTT	0.403000													4	19					0.150653	0.152838	0.150653	1	0
ZNF74	7625	broad.mit.edu	37	22	20759683	20759683	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:20759683G>T	ENST00000403682.3	+	4	775	c.274G>T	c.(274-276)Ggt>Tgt	p.G92C	ZNF74_ENST00000405993.1_Silent_p.A88A|ZNF74_ENST00000356671.5_Silent_p.A120A|ZNF74_ENST00000400451.2_Silent_p.A120A|ZNF74_ENST00000357502.5_Missense_Mutation_p.G126C	NM_001256523.1	NP_001243452.1	Q16587	ZNF74_HUMAN	zinc finger protein 74	0	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCTGAAGGCGGTGCCCTCTC	0.572000													28	44					5.45727e-16	8.2771e-16	0.729181	1	0
KMO	8564	broad.mit.edu	37	1	241725606	241725606	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:241725606T>A	ENST00000366559.4	+	7	900	c.589T>A	c.(589-591)Ttg>Atg	p.L197M	KMO_ENST00000366558.3_Missense_Mutation_p.L197M|KMO_ENST00000366557.4_Missense_Mutation_p.L197M	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	197					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GTACATGGAGTTGACTATTCC	0.468000													22	60					0	0	0.693898	0	0
CDH12	1010	broad.mit.edu	37	5	21842303	21842303	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:21842303C>A	ENST00000382254.1	-	8	1867	c.781G>T	c.(781-783)Gat>Tat	p.D261Y	CDH12_ENST00000522262.1_Missense_Mutation_p.D221Y|CDH12_ENST00000504376.2_Missense_Mutation_p.D261Y|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	261	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCATTGACATCGGTGAGAGTG	0.398000										HNSCC(59;0.17)			27	113					5.61819e-17	8.66202e-17	0.693898	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118359630	118359630	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:118359630G>A	ENST00000528052.1	+	9	957	c.886G>A	c.(886-888)Gat>Aat	p.D296N	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.D296N|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.D296N			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	296					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCTCAATCCCGATGGGTTTGC	0.483000													26	25					0	0	0.706142	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882509	144882509	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:144882509C>G	ENST00000369359.4	-	27	3959	c.3921G>C	c.(3919-3921)gtG>gtC	p.V1307V	PDE4DIP_ENST00000530740.1_Silent_p.V1307V|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.V1170V|PDE4DIP_ENST00000369354.3_Silent_p.V1170V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1170					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAAAGGCCTCACAGTCACAT	0.512000			T	PDGFRB	MPD								11	65					0	0	0.387290	0	0
MTMR6	9107	broad.mit.edu	37	13	25840041	25840041	+	Silent	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:25840041T>C	ENST00000381801.5	-	5	1268	c.507A>G	c.(505-507)gcA>gcG	p.A169A	MTMR6_ENST00000540661.1_Silent_p.A169A	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	169	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTGGTTTGCTTGCTATCCGGG	0.368000													5	77					0	0	0.184627	0	0
RNMTL1	55178	broad.mit.edu	37	17	685883	685883	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:685883G>C	ENST00000304478.4	+	1	371	c.265G>C	c.(265-267)Gag>Cag	p.E89Q		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	89					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CACCTGGGAAGAGTCTGGGCT	0.602000													4	9					0	0	0.217242	0	0
GRIA3	2892	broad.mit.edu	37	X	122616707	122616707	+	Missense_Mutation	SNP	G	G	C	rs137852350		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:122616707G>C	ENST00000264357.5	+	15	2789	c.2497G>C	c.(2497-2499)Gga>Cga	p.G833R	GRIA3_ENST00000371256.5_Missense_Mutation_p.G833R|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371251.1_Missense_Mutation_p.G833R	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	833			G -> R (in MRX94; reduced receptor expression possibly due to rapid degradation).		glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TATACTTGTCGGAGGTCTGGG	0.458000													39	60					0	0	0.827153	0	0
COL6A3	1293	broad.mit.edu	37	2	238274404	238274404	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:238274404G>A	ENST00000295550.4	-	12	6227	c.5775C>T	c.(5773-5775)ctC>ctT	p.L1925L	COL6A3_ENST00000472056.1_Silent_p.L1318L|COL6A3_ENST00000409809.1_Silent_p.L1719L|COL6A3_ENST00000347401.3_Silent_p.L1724L|COL6A3_ENST00000346358.4_Silent_p.L1725L|COL6A3_ENST00000353578.4_Silent_p.L1719L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1925	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGTCCTCCGTGAGGACGTAGG	0.607000													29	36					0	0	0.729181	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167894	140167894	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:140167894C>T	ENST00000504120.2	+	1	2019	c.2019C>T	c.(2017-2019)ggC>ggT	p.G673G	PCDHA1_ENST00000378133.3_Silent_p.G673G|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)			TGGAGAGCGGCCAGGCGCCAA	0.657000													7	16					0	0	0.411799	0	0
OR5I1	10798	broad.mit.edu	37	11	55703457	55703457	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:55703457C>A	ENST00000301532.3	-	1	419	c.420G>T	c.(418-420)agG>agT	p.R140S		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TACAGATGCCCCTAGACATCA	0.443000													20	74					8.04996e-18	1.25263e-17	0.608945	1	0
ASIC1	41	broad.mit.edu	37	12	50472760	50472760	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:50472760C>G	ENST00000228468.4	+	7	1433	c.1048C>G	c.(1048-1050)Ctg>Gtg	p.L350V	ASIC1_ENST00000447966.2_Missense_Mutation_p.L350V|ASIC1_ENST00000552438.1_Missense_Mutation_p.L384V	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	350					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AGATCCTGCTCTGGGTGAGCG	0.582000													18	90					0	0	0.539581	0	0
WDR59	79726	broad.mit.edu	37	16	74946198	74946198	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:74946198C>A	ENST00000262144.6	-	14	1417	c.1287G>T	c.(1285-1287)atG>atT	p.M429I		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	429	RWD.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						ACTTCACCAGCATCTTGACAC	0.502000													25	9					1.1804e-14	1.73393e-14	0.667858	1	0
TEX26	122046	broad.mit.edu	37	13	31526832	31526832	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:31526832C>A	ENST00000380473.3	+	3	195	c.182C>A	c.(181-183)tCa>tAa	p.S61*		NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	61																	TATACATATTCACTTAGTGAT	0.333000													9	40					1.12685e-05	1.32957e-05	0.307466	1	0
NXF3	56000	broad.mit.edu	37	X	102337945	102337945	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:102337945G>T	ENST00000395065.3	-	7	779	c.678C>A	c.(676-678)ctC>ctA	p.L226L	NXF3_ENST00000425463.2_Silent_p.L137L|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	226						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGTAAAATGGGAGTCTCTGGA	0.502000													36	227					1.39843e-22	2.27076e-22	0.870114	1	0
NAA60	79903	broad.mit.edu	37	16	3532549	3532549	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:3532549G>T	ENST00000407558.4	+	5	591	c.288G>T	c.(286-288)gcG>gcT	p.A96A	NAA60_ENST00000573580.1_Silent_p.A31A|NAA60_ENST00000575076.1_Silent_p.A96A|NAA60_ENST00000360862.5_Silent_p.A31A|NAA60_ENST00000577013.1_Intron|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000572942.1_Silent_p.A96A|NAA60_ENST00000424546.2_Silent_p.A103A|NAA60_ENST00000570819.1_Silent_p.A96A|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000421765.3_Silent_p.A96A|NAA60_ENST00000572584.1_Silent_p.A96A|NAA60_ENST00000414063.2_Silent_p.A96A|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000570551.1_3'UTR	NM_001083601.1	NP_001077070.1	Q9H7X0	NAT15_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	96	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						CACAAGTCGCGTACATCCTAA	0.572000													4	10					0.184627	0.186516	0.184627	1	0
CYBB	1536	broad.mit.edu	37	X	37663180	37663180	+	Silent	SNP	G	G	T	rs139761069		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:37663180G>T	ENST00000378588.4	+	9	1015	c.948G>T	c.(946-948)ggG>ggT	p.G316G	CYBB_ENST00000545017.1_Silent_p.G284G|CYBB_ENST00000536160.1_Silent_p.G49G|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000492288.1_3'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	316	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						AGAAGAAGGGGTTCAAAATGG	0.433000													24	39					1.1804e-14	1.73393e-14	0.667858	1	0
SEMA5B	54437	broad.mit.edu	37	3	122629027	122629027	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:122629027T>A	ENST00000357599.3	-	23	3805	c.3419A>T	c.(3418-3420)gAg>gTg	p.E1140V	SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.E1194V	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1140					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGGTGAGGCCTCGGGCCGGAA	0.557000													13	25					0	0	0.435327	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455779	37455779	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:37455779A>G	ENST00000234170.5	-	2	702	c.557T>C	c.(556-558)cTg>cCg	p.L186P		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	186					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GCTGTACTCCAGATCATACCA	0.393000													13	51					0	0	0.457914	0	0
COL11A2	1302	broad.mit.edu	37	6	33131475	33131475	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:33131475G>T	ENST00000341947.2	-	66	5418	c.5191C>A	c.(5191-5193)Cct>Act	p.P1731T	COL11A2_ENST00000374713.1_Missense_Mutation_p.P1684T|COL11A2_ENST00000361917.1_Missense_Mutation_p.P1624T|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1671T|COL11A2_ENST00000374714.1_Missense_Mutation_p.P1705T|COL11A2_ENST00000374708.4_Missense_Mutation_p.P1645T|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1710T|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1650T|COL11A2_ENST00000477772.1_5'UTR	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1731	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AAGCAGACAGGCCCCAGCAGC	0.632000													27	53					9.85521e-28	1.63831e-27	0.819951	1	0
BGN	633	broad.mit.edu	37	X	152770098	152770098	+	Translation_Start_Site	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:152770098C>A	ENST00000370204.1	+	0	143				BGN_ENST00000331595.4_Silent_p.P3P|BGN_ENST00000480756.1_3'UTR			P21810	PGS1_HUMAN	biglycan							proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCATGTGGCCCCTGTGGCGCC	0.637000													5	8					2.61681e-11	3.61022e-11	0.457914	1	0
DNAH5	1767	broad.mit.edu	37	5	13735346	13735346	+	Silent	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:13735346T>A	ENST00000265104.4	-	68	11759	c.11655A>T	c.(11653-11655)cgA>cgT	p.R3885R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3885					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGTACAGCCCTCGGGCAGCAT	0.448000									Kartagener syndrome				5	57					0	0	0.217242	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121682766	121682766	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:121682766G>T	ENST00000393386.2	+	22	6317	c.5906G>T	c.(5905-5907)cGt>cTt	p.R1969L	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R1102L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1969	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAACACATCCGTTCACAAAGA	0.343000													26	19					3.1745e-13	4.54002e-13	0.729181	1	0
HERC3	8916	broad.mit.edu	37	4	89576324	89576324	+	Splice_Site	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:89576324G>C	ENST00000402738.1	+	8	1016		c.e8-1		HERC3_ENST00000264345.3_Splice_Site|HERC3_ENST00000407637.1_Splice_Site	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTCCTTGTTAGAGTGGAGGTG	0.448000													51	115					0	0	0.870114	0	0
PPP4R2	151987	broad.mit.edu	37	3	73096425	73096425	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:73096425G>T	ENST00000356692.5	+	3	458	c.205G>T	c.(205-207)Ggt>Tgt	p.G69C	PPP4R2_ENST00000295862.9_Missense_Mutation_p.G13C|PPP4R2_ENST00000394284.3_Intron			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	69					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TGAGCCAAGAGGTCCTCCCAA	0.368000													3	7					0.00024832	0.000275565	0.150653	1	0
ACCS	84680	broad.mit.edu	37	11	44092856	44092856	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:44092856G>C	ENST00000263776.8	+	3	773	c.339G>C	c.(337-339)ctG>ctC	p.L113L	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Silent_p.L113L	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	113							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTGACCTGCTGTCCTGGCGGG	0.582000													29	82					0	0	0.779181	0	0
TBX3	6926	broad.mit.edu	37	12	115120798	115120798	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:115120798C>A	ENST00000349155.2	-	1	1171	c.208G>T	c.(208-210)Ggg>Tgg	p.G70W	TBX3_ENST00000257566.3_Missense_Mutation_p.G70W	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	70					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TCGGCCGCCCCCACCAATTGA	0.701000													4	14					2.0095e-06	2.42381e-06	0.248553	1	0
MUC16	94025	broad.mit.edu	37	19	9045757	9045757	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:9045757A>G	ENST00000397910.4	-	5	36077	c.35874T>C	c.(35872-35874)caT>caC	p.H11958H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11960	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						CTCCTTCTCCATGACTGGTTT	0.473000													33	80					0	0	0.812448	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19642343	19642343	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr21:19642343G>T	ENST00000284885.3	-	25	3036	c.3003C>A	c.(3001-3003)ccC>ccA	p.P1001P		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	1001	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CATACACTCCGGGGCGATTAG	0.453000													30	15					2.4375e-19	3.83198e-19	0.717897	1	0
NLRP9	338321	broad.mit.edu	37	19	56249583	56249583	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:56249583T>C	ENST00000332836.2	-	1	185	c.158A>G	c.(157-159)gAa>gGa	p.E53G		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	53	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGCTACATCTTCTTTGGAGGC	0.448000													5	328					0	0	0.217242	0	0
ZNF470	388566	broad.mit.edu	37	19	57089612	57089612	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:57089612G>T	ENST00000330619.8	+	6	2501	c.1815G>T	c.(1813-1815)agG>agT	p.R605S	ZNF470_ENST00000391709.3_Missense_Mutation_p.R605S|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCAGGCAGAGGGCATCCTTGA	0.438000													32	5					1.39806e-14	2.04829e-14	0.729181	1	0
CLMN	79789	broad.mit.edu	37	14	95690107	95690107	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:95690107C>A	ENST00000298912.4	-	3	343	c.230G>T	c.(229-231)gGg>gTg	p.G77V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	77	Actin-binding.|CH 1.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CAGATTCCGCCCAGACAGGAC	0.398000													25	47					1.36615e-20	2.17831e-20	0.769981	1	0
IFI44L	10964	broad.mit.edu	37	1	79107493	79107493	+	Nonstop_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:79107493G>T	ENST00000370751.4	+	9	1537	c.1358G>T	c.(1357-1359)tGa>tTa	p.*453L	IFI44L_ENST00000342282.3_Nonstop_Mutation_p.*195L|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	0						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CCCTGCATTTGAGATAAGTTG	0.428000													54	180					3.76628e-20	5.98258e-20	0.870114	1	0
PCDH11X	27328	broad.mit.edu	37	X	91132420	91132420	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:91132420G>T	ENST00000373094.1	+	2	2026	c.1181G>T	c.(1180-1182)gGc>gTc	p.G394V	PCDH11X_ENST00000504220.1_Missense_Mutation_p.G394V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G394V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G394V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G394V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G394V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G394V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G394V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G394V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	394	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACCATAATGGCAGGGTGACA	0.423000													22	41					5.62743e-28	9.36417e-28	0.717897	1	0
PPAPDC3	84814	broad.mit.edu	37	9	134183499	134183499	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:134183499T>A	ENST00000372264.3	+	2	945	c.641T>A	c.(640-642)cTg>cAg	p.L214Q		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	214						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		GCGGTGCCCCTGCGTGTGCTG	0.682000													4	2					0	0	0.150653	0	0
SH2D4A	63898	broad.mit.edu	37	8	19221630	19221630	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:19221630C>G	ENST00000265807.3	+	7	1165	c.754C>G	c.(754-756)Caa>Gaa	p.Q252E	SH2D4A_ENST00000519207.1_Missense_Mutation_p.Q252E|SH2D4A_ENST00000518040.1_Missense_Mutation_p.Q207E	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	252						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		CTTGGCTAAACAAGCACGAGA	0.537000													26	38					0	0	0.729181	0	0
GDF6	392255	broad.mit.edu	37	8	97172668	97172668	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:97172668G>C	ENST00000287020.5	-	1	352	c.253C>G	c.(253-255)Ccg>Gcg	p.P85A		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	85					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CTGCCTGGCGGCTCCTGCGCC	0.687000													11	42					0	0	0.457914	0	0
LOC643733	643733	broad.mit.edu	37	11	104776322	104776322	+	RNA	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:104776322C>G	ENST00000532510.1	-	0	3110																											GGGCTATGACCTTCACTATTT	0.378000													12	33					0	0	0.387290	0	0
PIK3CG	5294	broad.mit.edu	37	7	106545619	106545619	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:106545619C>A	ENST00000359195.3	+	11	3406	c.3096C>A	c.(3094-3096)tcC>tcA	p.S1032S	PIK3CG_ENST00000440650.2_Silent_p.S1032S|PIK3CG_ENST00000496166.1_Silent_p.S1032S	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	1032	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCCTGTTCTCCATGATGCTGA	0.428000													55	55					3.28156e-27	5.43903e-27	0.870114	1	0
COL4A3	1285	broad.mit.edu	37	2	228118863	228118863	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:228118863G>T	ENST00000396578.3	+	14	963	c.801G>T	c.(799-801)atG>atT	p.M267I	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	267	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGGAGCAATGGGCGAGCCTG	0.418000													17	17					3.51602e-12	4.95667e-12	0.575678	1	0
TENM4	26011	broad.mit.edu	37	11	78574057	78574057	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:78574057C>A	ENST00000278550.7	-	10	1667	c.1205G>T	c.(1204-1206)gGg>gTg	p.G402V		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GCCAGTGCCCCCTGAGGGGTA	0.582000													6	0					0.000157383	0.000176164	0.278610	1	0
FOXD4L3	286380	broad.mit.edu	37	9	70918901	70918901	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:70918901G>T	ENST00000342833.2	+	1	1626	c.1034G>T	c.(1033-1035)tGt>tTt	p.C345F		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	345						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CGCAGAATTTGTCCCCGACCG	0.637000													13	40					3.45872e-05	4.0022e-05	0.500413	1	0
GRIA4	2893	broad.mit.edu	37	11	105774684	105774684	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:105774684G>T	ENST00000393127.2	+	8	1476	c.1030G>T	c.(1030-1032)Gac>Tac	p.D344Y	GRIA4_ENST00000525187.1_Missense_Mutation_p.D344Y|GRIA4_ENST00000393125.2_Missense_Mutation_p.D344Y|GRIA4_ENST00000428631.2_Missense_Mutation_p.D344Y|GRIA4_ENST00000282499.5_Missense_Mutation_p.D344Y|GRIA4_ENST00000530497.1_Missense_Mutation_p.D344Y	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	344					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CCAGGGAATTGACATGGAGAG	0.393000													15	40					4.14922e-12	5.82974e-12	0.500413	1	0
OFD1	8481	broad.mit.edu	37	X	13775792	13775792	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:13775792G>T	ENST00000380567.1	+	15	1877	c.1005G>T	c.(1003-1005)ccG>ccT	p.P335P	OFD1_ENST00000380550.3_Silent_p.P435P|OFD1_ENST00000340096.6_Silent_p.P475P|OFD1_ENST00000490265.1_3'UTR			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	475					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TAGCTCAGCCGGCTCCTGAAC	0.403000													35	31					9.78485e-24	1.60281e-23	0.769981	1	0
OR2W3	343171	broad.mit.edu	37	1	248059497	248059497	+	Silent	SNP	G	G	T	rs140094589	byFrequency	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:248059497G>T	ENST00000537741.1	+	3	866	c.609G>T	c.(607-609)gcG>gcT	p.A203A	OR2W3_ENST00000360358.3_Silent_p.A203A			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTGTCCTGGCGGTGGGTGTTG	0.582000													41	40					3.21987e-24	5.29497e-24	0.870114	1	0
DAB2	1601	broad.mit.edu	37	5	39376943	39376943	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:39376943T>A	ENST00000320816.6	-	12	2413	c.1946A>T	c.(1945-1947)aAg>aTg	p.K649M	DAB2_ENST00000339788.6_Missense_Mutation_p.K431M|DAB2_ENST00000545653.1_Missense_Mutation_p.K628M|DAB2_ENST00000509337.1_Missense_Mutation_p.K628M	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	649	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTTCACATCCTTGATCTCTTT	0.547000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	34					0	0	0.729181	0	0
LRWD1	222229	broad.mit.edu	37	7	102110022	102110022	+	Splice_Site	SNP	G	G	A	rs140653534		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:102110022G>A	ENST00000292616.5	+	10	1382	c.1228_splice	c.e10-1	p.T410_splice		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	410					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCTCTTCAGCGGCCTCCTATG	0.647000													11	50					0	0	0.361761	0	0
ITGA4	3676	broad.mit.edu	37	2	182340550	182340550	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:182340550G>A	ENST00000339307.4	+	5	1008	c.560G>A	c.(559-561)aGc>aAc	p.S187N	ITGA4_ENST00000397033.2_Intron|ITGA4_ENST00000478440.1_Intron			P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	187					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCTATAGGTAGCATCAGCAAG	0.383000													14	26					0	0	0.457914	0	0
F2RL2	2151	broad.mit.edu	37	5	75914407	75914407	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:75914407C>T	ENST00000296641.4	-	2	328	c.125G>A	c.(124-126)gGa>gAa	p.G42E	IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.G20E|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	42					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TGGGGGAGCTCCACGAAAGGT	0.403000													9	108					0	0	0.361761	0	0
OR11G2	390439	broad.mit.edu	37	14	20665698	20665698	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:20665698C>G	ENST00000357366.3	+	1	204	c.204C>G	c.(202-204)ctC>ctG	p.L68L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTTTGTGCTCTTCACTGTTG	0.557000													11	68					0	0	0.387290	0	0
KCNA6	3742	broad.mit.edu	37	12	4920249	4920249	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:4920249C>A	ENST00000433855.1	+	1	1908	c.1042C>A	c.(1042-1044)Cgg>Agg	p.R348R	KCNA6_ENST00000280684.3_Silent_p.R348R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	348						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CCGCCTGGTCCGGGTGTTCCG	0.647000										HNSCC(72;0.22)			19	17					9.65021e-13	1.37661e-12	0.750413	1	0
MYOZ2	51778	broad.mit.edu	37	4	120085450	120085450	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:120085450A>G	ENST00000307128.5	+	5	674	c.461A>G	c.(460-462)cAa>cGa	p.Q154R		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	154							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCCTGGGAACAAGCCATTAGC	0.418000													11	47					0	0	0.479597	0	0
SLC30A10	55532	broad.mit.edu	37	1	220100370	220100370	+	Translation_Start_Site	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:220100370C>A	ENST00000536446.1	-	0	157				SLC30A10_ENST00000366926.3_Splice_Site_p.G240_splice			Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10						zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TCAATCCTACCTCTGATATTC	0.383000													16	32					1.15088e-07	1.45506e-07	0.500413	1	0
PCDH9	5101	broad.mit.edu	37	13	67800923	67800923	+	Silent	SNP	A	A	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:67800923A>C	ENST00000544246.1	-	2	2341	c.1650T>G	c.(1648-1650)ccT>ccG	p.P550P	PCDH9_ENST00000377861.3_Silent_p.P550P|PCDH9_ENST00000377865.2_Silent_p.P550P|PCDH9_ENST00000328454.5_Silent_p.P550P|PCDH9_ENST00000456367.1_Silent_p.P550P	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	550	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTGGAGGGGAGGGGTCCCAT	0.428000													9	32					0	0	0.411799	0	0
SHROOM2	357	broad.mit.edu	37	X	9864437	9864437	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:9864437G>T	ENST00000380913.3	+	4	2579	c.2489G>T	c.(2488-2490)cGg>cTg	p.R830L		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	830					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GAGAGGCCGCGGACAGCGGGC	0.627000													4	10					8.12818e-05	9.19624e-05	0.248553	1	0
GPR151	134391	broad.mit.edu	37	5	145895361	145895361	+	Missense_Mutation	SNP	G	G	T	rs147138565	byFrequency	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:145895361G>T	ENST00000311104.2	-	1	392	c.316C>A	c.(316-318)Cta>Ata	p.L106I		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	106						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCAGCCTAGATCCCAAACA	0.507000													13	12					2.37509e-13	3.40836e-13	0.592651	1	0
ZNF804B	219578	broad.mit.edu	37	7	88963617	88963617	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:88963617C>A	ENST00000333190.4	+	4	1930	c.1321C>A	c.(1321-1323)Cta>Ata	p.L441I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	441						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATCTAAACCACTACCTTTTCT	0.388000										HNSCC(36;0.09)			20	67					1.87028e-06	2.26403e-06	0.608945	1	0
TIMD4	91937	broad.mit.edu	37	5	156353300	156353300	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:156353300G>T	ENST00000274532.2	-	6	924	c.868C>A	c.(868-870)Cag>Aag	p.Q290K	TIMD4_ENST00000406964.1_5'UTR|TIMD4_ENST00000407087.3_Missense_Mutation_p.Q262K	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	290						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTTTGTTCTGCTCAGGAACT	0.373000													5	14					0.00116845	0.00126487	0.217242	1	0
UBR4	23352	broad.mit.edu	37	1	19437263	19437263	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:19437263C>T	ENST00000375267.2	-	79	11868	c.11865G>A	c.(11863-11865)ctG>ctA	p.L3955L	UBR4_ENST00000375254.3_Silent_p.L3955L|UBR4_ENST00000375217.2_Silent_p.L3948L|UBR4_ENST00000375226.2_Silent_p.L3931L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3955					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGTGGCCCTTCAGGGCTGTGG	0.542000													22	82					0	0	0.639603	0	0
OR52R1	119695	broad.mit.edu	37	11	4825034	4825034	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:4825034C>A	ENST00000380382.1	-	1	813	c.814G>T	c.(814-816)Gct>Tct	p.A272S	OR52R1_ENST00000356069.2_Missense_Mutation_p.A193S|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTGTATCAGCACACACCAAC	0.493000													25	61					3.73988e-18	5.83033e-18	0.706142	1	0
DSPP	1834	broad.mit.edu	37	4	88535154	88535154	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:88535154G>T	ENST00000399271.1	+	5	1460	c.1340G>T	c.(1339-1341)aGt>aTt	p.S447I	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.S447I	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	447	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GACAGCAATAGTGATGGATAT	0.398000													19	29					1.2644e-06	1.54188e-06	0.592651	1	0
SYNE1	23345	broad.mit.edu	37	6	152749376	152749376	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:152749376T>A	ENST00000367255.5	-	37	5541	c.4940A>T	c.(4939-4941)cAg>cTg	p.Q1647L	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1654L|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1654L|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1647L|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1647L|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1717L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1647					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)		CAGCGCCGTCTGTCTCTCCTT	0.527000										HNSCC(10;0.0054)			63	32					0	0	0.870114	0	0
ADAM11	4185	broad.mit.edu	37	17	42854536	42854536	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:42854536G>T	ENST00000200557.6	+	21	1853	c.1684G>T	c.(1684-1686)Gct>Tct	p.A562S	ADAM11_ENST00000535346.1_Missense_Mutation_p.A362S	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	562	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCCCACAGCGGCTGCTGATCG	0.642000													13	4					0.00185496	0.00199774	0.435327	1	0
KCNJ16	3773	broad.mit.edu	37	17	68128552	68128552	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:68128552C>T	ENST00000585558.1	+	4	817	c.429C>T	c.(427-429)atC>atT	p.I143I	KCNJ16_ENST00000283936.1_Silent_p.I108I|KCNJ16_ENST00000392671.1_Silent_p.I108I|KCNJ16_ENST00000392670.1_Silent_p.I108I|KCNJ16_ENST00000589377.1_Silent_p.I108I|KCNJ16_ENST00000586462.1_Silent_p.I147I			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	108					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ATCCAGACATCACACCTTGTG	0.408000													9	119					0	0	0.387290	0	0
UQCRB	7381	broad.mit.edu	37	8	97243333	97243333	+	Nonstop_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:97243333T>C	ENST00000518406.1	-	5	431	c.423A>G	c.(421-423)tgA>tgG	p.*141W	UQCRB_ENST00000523920.1_3'UTR|UQCRB_ENST00000517523.1_3'UTR|UQCRB_ENST00000287022.5_Missense_Mutation_p.K96E	NM_001254752.1	NP_001241681.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	0					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					ATAACCTCTTTCAGATACGGT	0.348000													24	89					0	0	0.681144	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077787	19077787	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:19077787G>A	ENST00000329773.2	-	2	250	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	55					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CGGAAGCCCAGGAGCCAGAGC	0.572000													33	100					0	0	0.796494	0	0
ABCA12	26154	broad.mit.edu	37	2	215840558	215840558	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:215840558G>C	ENST00000272895.7	-	34	5551	c.5332C>G	c.(5332-5334)Cag>Gag	p.Q1778E	ABCA12_ENST00000389661.4_Missense_Mutation_p.Q1460E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1778					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			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)		GGGGAGATCTGAATCTCTGGA	0.453000													15	71					0	0	0.479597	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121659297	121659297	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:121659297C>G	ENST00000393386.2	+	13	5374	c.4963C>G	c.(4963-4965)Ctt>Gtt	p.L1655V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L795V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1655					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.L1655I(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCTAGTGGTTCTTGTGGGTAT	0.403000													8	30					0	0	0.411799	0	0
RYR2	6262	broad.mit.edu	37	1	237947501	237947501	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:237947501C>A	ENST00000366574.2	+	90	12806	c.12489C>A	c.(12487-12489)ccC>ccA	p.P4163P	RYR2_ENST00000360064.6_Silent_p.P4169P|RYR2_ENST00000542537.1_Silent_p.P4147P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4163					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGAGAAGCCCCAGGTCAAGG	0.512000													25	106					1.04594e-18	1.63971e-18	0.819951	1	0
KIAA1239	57495	broad.mit.edu	37	4	37440661	37440661	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:37440661G>C	ENST00000309447.5	+	6	1793	c.945G>C	c.(943-945)ctG>ctC	p.L315L		NM_001144990.1	NP_001138462.1	Q9ULI1	K1239_HUMAN	KIAA1239	315										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						CATCTAATCTGAGAGTGTACA	0.393000													4	15					0	0	0.150653	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090669	91090669	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:91090669T>C	ENST00000373094.1	+	1	1011	c.166T>C	c.(166-168)Tcc>Ccc	p.S56P	PCDH11X_ENST00000504220.1_Missense_Mutation_p.S56P|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S56P|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S56P|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S56P|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S56P|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S56P|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S56P|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S56P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	56	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCCAAACAAGTCCTTGACAAC	0.468000													4	69					0	0	0.150653	0	0
MTMR1	8776	broad.mit.edu	37	X	149899014	149899014	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:149899014C>A	ENST00000445323.2	+	8	796	c.675C>A	c.(673-675)agC>agA	p.S225R	MTMR1_ENST00000542156.1_Missense_Mutation_p.S217R|MTMR1_ENST00000451863.2_Missense_Mutation_p.S217R|MTMR1_ENST00000541925.1_Missense_Mutation_p.S123R|MTMR1_ENST00000538506.1_Missense_Mutation_p.S104R|MTMR1_ENST00000370390.3_Missense_Mutation_p.S217R|MTMR1_ENST00000544228.1_Missense_Mutation_p.S217R			Q13613	MTMR1_HUMAN	myotubularin related protein 1	217						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCATTCAGCTATAAAGAAA	0.274000													33	39					1.48734e-19	2.34262e-19	0.864702	1	0
SLC36A3	285641	broad.mit.edu	37	5	150682854	150682854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:150682854G>T	ENST00000335230.3	-	1	473	c.62C>A	c.(61-63)tCa>tAa	p.S21*	SLC36A3_ENST00000377713.3_Nonsense_Mutation_p.S21*	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	21	Poly-Ser.					integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCTGAGGGTGACTGAGGTCC	0.542000													32	15					3.11337e-16	4.73492e-16	0.769981	1	0
C6orf25	80739	broad.mit.edu	37	6	31692586	31692586	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:31692586G>C	ENST00000375809.3	+	5	616	c.605G>C	c.(604-606)aGa>aCa	p.R202T	C6orf25_ENST00000375810.4_Missense_Mutation_p.R202T|C6orf25_ENST00000375805.2_Missense_Mutation_p.E172Q|C6orf25_ENST00000480039.1_Missense_Mutation_p.E196Q	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						AAAGGAGGAAGAGCCCAAGAT	0.537000													27	262					0	0	0.729181	0	0
EPHB6	2051	broad.mit.edu	37	7	142565367	142565367	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:142565367G>A	ENST00000392957.2	+	12	2539	c.1752G>A	c.(1750-1752)gaG>gaA	p.E584E	EPHB6_ENST00000442129.1_Silent_p.E584E|EPHB6_ENST00000411471.2_Silent_p.E307E	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	584						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCCCAGGGGAGCTGTCTTCCC	0.632000													8	6					0	0	0.335167	0	0
IGLV5-37	28783	broad.mit.edu	37	22	22782198	22782198	+	RNA	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:22782198A>T	ENST00000390300.2	+	0	201																											GAGCCCTCCCAGGTATCTCCT	0.537000													30	13					0	0	0.779181	0	0
HUWE1	10075	broad.mit.edu	37	X	53563456	53563456	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:53563456G>C	ENST00000342160.3	-	78	12767	c.12310C>G	c.(12310-12312)Ctc>Gtc	p.L4104V	HUWE1_ENST00000262854.6_Missense_Mutation_p.L4104V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4104	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAGTAGCTGAGGTGGTTGGGG	0.468000													46	76					0	0	0.870114	0	0
GSG1	83445	broad.mit.edu	37	12	13238120	13238120	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:13238120C>G	ENST00000396302.3	-	6	1018	c.820G>C	c.(820-822)Gta>Cta	p.V274L	GSG1_ENST00000432710.2_Silent_p.T245T|GSG1_ENST00000457134.2_Silent_p.T181T|GSG1_ENST00000324458.8_Silent_p.T268T|GSG1_ENST00000537302.1_Silent_p.T204T|GSG1_ENST00000396310.2_Silent_p.T201T|GSG1_ENST00000337630.6_Silent_p.T232T|GSG1_ENST00000351606.6_Missense_Mutation_p.V310L	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TCCTGGTGTACGTGTTGAAGG	0.522000													7	51					0	0	0.278610	0	0
CCNB3	85417	broad.mit.edu	37	X	50090716	50090716	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:50090716C>A	ENST00000376042.1	+	11	4200	c.3902C>A	c.(3901-3903)tCc>tAc	p.S1301Y	CCNB3_ENST00000348603.2_Missense_Mutation_p.S197Y|CCNB3_ENST00000376038.1_Missense_Mutation_p.S197Y|CCNB3_ENST00000276014.7_Missense_Mutation_p.S1301Y			Q8WWL7	CCNB3_HUMAN	cyclin B3	1301					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GAGAAGGCTTCCAAGCTAGCT	0.498000													22	19					1.50039e-11	2.08712e-11	0.608945	1	0
OR8B8	26493	broad.mit.edu	37	11	124310951	124310951	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:124310951G>T	ENST00000328064.2	-	1	103	c.31C>A	c.(31-33)Cag>Aag	p.Q11K		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGGATAAACTGTGTCACGAAG	0.512000													26	17					1.50538e-07	1.90183e-07	0.706142	1	0
RGSL1	353299	broad.mit.edu	37	1	182443128	182443128	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:182443128C>A	ENST00000294854.8	+	6	902	c.882C>A	c.(880-882)tcC>tcA	p.S294S	RGSL1_ENST00000542961.1_Silent_p.S329S	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	294						integral to membrane	signal transducer activity			central_nervous_system(2)|skin(4)	6						AAATGCCTTCCCTGAAAATGG	0.438000													7	14					5.18039e-06	6.15126e-06	0.278610	1	0
FCER1A	2205	broad.mit.edu	37	1	159275854	159275854	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:159275854G>T	ENST00000368115.1	+	5	507	c.408G>T	c.(406-408)agG>agT	p.R136S	FCER1A_ENST00000368114.1_Missense_Mutation_p.R103S	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	136	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ATGGTTGGAGGAACTGGGATG	0.478000													7	84					2.52707e-12	3.5685e-12	0.335167	1	0
GPR37	2861	broad.mit.edu	37	7	124386587	124386587	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:124386587G>C	ENST00000303921.2	-	2	2484	c.1834C>G	c.(1834-1836)Cat>Gat	p.H612D		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	612						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTCAGCAATGAGTTCCGACA	0.408000													12	89					0	0	0.435327	0	0
ABCA10	10349	broad.mit.edu	37	17	67197662	67197662	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:67197662A>G	ENST00000269081.4	-	11	2063	c.1154T>C	c.(1153-1155)tTc>tCc	p.F385S	ABCA10_ENST00000432313.2_Missense_Mutation_p.F385S|ABCA10_ENST00000416101.2_Missense_Mutation_p.F385S	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	385					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTTTCCATGGAATTCTGGAGA	0.338000													5	56					0	0	0.184627	0	0
NOX4	50507	broad.mit.edu	37	11	89135496	89135496	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:89135496G>C	ENST00000535633.1	-	9	1082	c.772C>G	c.(772-774)Cag>Gag	p.Q258E	NOX4_ENST00000525196.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.Q258E|NOX4_ENST00000263317.4_Missense_Mutation_p.Q282E|NOX4_ENST00000528341.1_Missense_Mutation_p.Q257E|NOX4_ENST00000532825.1_Missense_Mutation_p.Q258E|NOX4_ENST00000542487.1_Missense_Mutation_p.Q258E|NOX4_ENST00000413594.2_Missense_Mutation_p.Q303E|NOX4_ENST00000343727.5_Missense_Mutation_p.Q258E|NOX4_ENST00000534731.1_Missense_Mutation_p.Q282E|NOX4_ENST00000527956.1_Missense_Mutation_p.Q258E|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.Q116E	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	282	Ferric oxidoreductase.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AATCTGACCTGTGGAAAATTA	0.358000													7	20					0	0	0.278610	0	0
ATP8A2	51761	broad.mit.edu	37	13	26112153	26112153	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:26112153G>C	ENST00000381655.2	+	7	677	c.535G>C	c.(535-537)Gtc>Ctc	p.V179L	ATP8A2_ENST00000255283.8_Missense_Mutation_p.V139L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	139					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)		TGTGAAGGTCGTCAATGGGCA	0.448000													7	22					0	0	0.248553	0	0
CDCA7L	55536	broad.mit.edu	37	7	21948119	21948119	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:21948119C>T	ENST00000406877.3	-	4	589	c.310G>A	c.(310-312)Gag>Aag	p.E104K	CDCA7L_ENST00000373934.4_Missense_Mutation_p.E58K|CDCA7L_ENST00000356195.5_Missense_Mutation_p.E70K|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	104	PSIP1-binding.				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						AAATCTGACTCCACGACCTAA	0.398000													3	26					0	0	0.184627	0	0
ZNF679	168417	broad.mit.edu	37	7	63726980	63726980	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:63726980C>G	ENST00000421025.1	+	5	1238	c.969C>G	c.(967-969)ccC>ccG	p.P323P	ZNF679_ENST00000255746.4_Silent_p.P323P	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GAGAGAAACCCTACACATGTG	0.393000													13	34					0	0	0.479597	0	0
CDH7	1005	broad.mit.edu	37	18	63477089	63477089	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:63477089C>A	ENST00000536984.2	+	3	1054	c.360C>A	c.(358-360)ctC>ctA	p.L120L	CDH7_ENST00000397968.2_Silent_p.L120L|CDH7_ENST00000323011.3_Silent_p.L120L			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	120	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACTACACGCTCCGAGCTCAAG	0.493000													14	20					2.31682e-05	2.692e-05	0.479597	1	0
HIST1H4L	8368	broad.mit.edu	37	6	27841084	27841084	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:27841084C>T	ENST00000355981.2	-	1	205	c.205G>A	c.(205-207)Gat>Aat	p.D69N		NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	69					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						GTAACTGCATCGCGGATTACA	0.567000													36	78					0	0	0.819951	0	0
ABCC8	6833	broad.mit.edu	37	11	17483340	17483340	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:17483340C>T	ENST00000302539.4	-	5	737	c.612G>A	c.(610-612)gtG>gtA	p.V204V	ABCC8_ENST00000389817.3_Silent_p.V204V	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	204					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGGGAGGCTTCACCTCCCTCG	0.577000													27	62					0	0	0.729181	0	0
ACADS	35	broad.mit.edu	37	12	121177209	121177209	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:121177209G>T	ENST00000242592.4	+	10	1348	c.1197G>T	c.(1195-1197)cgG>cgT	p.R399R	ACADS_ENST00000411593.2_Silent_p.R395R	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	399						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	AAATCCAGCGGCTGGTGATCG	0.697000													8	3					0.00621372	0.00656153	0.335167	1	0
MAP1B	4131	broad.mit.edu	37	5	71492222	71492222	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:71492222G>A	ENST00000296755.7	+	5	3338	c.3040G>A	c.(3040-3042)Gaa>Aaa	p.E1014K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1014						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGAGAGGCTGAACAATCTGA	0.517000													40	161					0	0	0.864702	0	0
HIPK2	28996	broad.mit.edu	37	7	139281713	139281713	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:139281713G>C	ENST00000406875.3	-	12	2561	c.2467C>G	c.(2467-2469)Cag>Gag	p.Q823E	HIPK2_ENST00000342645.6_Intron|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q796E	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	823	Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.Q823*(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTGATGGCCTGAGAGGAGGAC	0.582000													9	55					0	0	0.307466	0	0
C10orf53	282966	broad.mit.edu	37	10	50902609	50902609	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:50902609G>A	ENST00000374111.3	+	3	255	c.243G>A	c.(241-243)ctG>ctA	p.L81L	C10orf53_ENST00000374113.3_3'UTR|C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000535836.1_Intron	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	81										endometrium(1)|lung(6)	7		all_neural(218;0.107)				TAGACCCACTGTGTGAAAAGG	0.448000													28	45					0	0	0.760397	0	0
OR8B2	26595	broad.mit.edu	37	11	124252597	124252597	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:124252597G>A	ENST00000375013.2	-	1	661	c.643C>T	c.(643-645)Ctc>Ttc	p.L215F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAAGAAATGAGGATGGTACAA	0.438000													41	35					0	0	0.870114	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43473953	43473953	+	Splice_Site	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:43473953T>C	ENST00000532038.1	-	12	1544		c.e12-2		ARHGAP27_ENST00000528384.1_Splice_Site|ARHGAP27_ENST00000455881.1_Splice_Site|ARHGAP27_ENST00000376922.2_Splice_Site|ARHGAP27_ENST00000442348.1_Splice_Site|ARHGAP27_ENST00000428638.1_Splice_Site|ARHGAP27_ENST00000532891.2_Splice_Site			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27						positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ACACCTGGTCTAGGGCAGAGG	0.726000													6	12					0	0	0.278610	0	0
RNASEL	6041	broad.mit.edu	37	1	182555602	182555602	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:182555602T>C	ENST00000367559.3	-	2	593	c.340A>G	c.(340-342)Aaa>Gaa	p.K114E	RNASEL_ENST00000539397.1_Missense_Mutation_p.K114E|RNASEL_ENST00000444138.1_Missense_Mutation_p.K114E	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	114					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCTGCTCCTTTAGAAAGGAAA	0.473000													19	31					0	0	0.557998	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50195708	50195708	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:50195708C>G	ENST00000335999.6	-	6	475	c.274G>C	c.(274-276)Gac>Cac	p.D92H		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	88										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CGTTCCAGGTCAAACACTCTC	0.582000													14	36					0	0	0.457914	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734817	176734817	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:176734817C>A	ENST00000367662.3	+	15	5331	c.4167C>A	c.(4165-4167)ccC>ccA	p.P1389P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1389					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCATCGGCCCTGTGGGAAGC	0.502000													23	110					5.45727e-16	8.2771e-16	0.729181	1	0
LDLRAD4	753	broad.mit.edu	37	18	13645418	13645418	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:13645418C>T	ENST00000361205.4	+	7	1351	c.683C>T	c.(682-684)cCa>cTa	p.P228L	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P191L|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.P228L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P173L|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P210L|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P151L|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.P130L	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		AGCGGGGGTCCATGCCCACCC	0.572000													5	42					0	0	0.217242	0	0
OR51I2	390064	broad.mit.edu	37	11	5475122	5475122	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:5475122T>C	ENST00000341449.2	+	1	485	c.404T>C	c.(403-405)gTg>gCg	p.V135A	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V135E(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGCAACTGTGCTCACCACT	0.473000													25	71					0	0	0.729181	0	0
MYO1A	4640	broad.mit.edu	37	12	57436907	57436907	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:57436907G>C	ENST00000442789.2	-	13	1334	c.1047C>G	c.(1045-1047)atC>atG	p.I349M	MYO1A_ENST00000544473.1_Missense_Mutation_p.I187M|MYO1A_ENST00000300119.3_Missense_Mutation_p.I349M	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	349	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCGGCTGTAGATGTTCTTAG	0.552000													9	18					0	0	0.361761	0	0
ABCB5	340273	broad.mit.edu	37	7	20739693	20739693	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:20739693G>T	ENST00000404938.2	+	19	2924	c.2272G>T	c.(2272-2274)Ggc>Tgc	p.G758C	ABCB5_ENST00000258738.6_Missense_Mutation_p.G313C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	313	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATTATTTTACGGCAGAGCAGG	0.303000													9	18					1.58986e-06	1.92596e-06	0.361761	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103178455	103178455	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:103178455G>C	ENST00000375735.2	+	78	11532	c.11388G>C	c.(11386-11388)ttG>ttC	p.L3796F	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3803F|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3796	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACAAGGAATTGAATACTCTTC	0.279000													4	16					0	0	0.217242	0	0
OR4S2	219431	broad.mit.edu	37	11	55418786	55418786	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:55418786G>A	ENST00000312422.2	+	1	407	c.407G>A	c.(406-408)cGg>cAg	p.R136Q		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ATCATGAACCGGGAGACATGC	0.438000													60	155					0	0	0.870114	0	0
TAF2	6873	broad.mit.edu	37	8	120814113	120814113	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:120814113A>G	ENST00000378164.2	-	6	1011	c.713T>C	c.(712-714)cTt>cCt	p.L238P		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	238					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGGAATGGTAAGCATATAATG	0.408000													19	45					0	0	0.575678	0	0
VWA3A	146177	broad.mit.edu	37	16	22134998	22134998	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:22134998G>A	ENST00000389398.5	+	16	1598	c.1502G>A	c.(1501-1503)aGa>aAa	p.R501K	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	501						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTGGCCAGCAGAAGAATCTGG	0.527000													31	50					0	0	0.769981	0	0
ZIC4	84107	broad.mit.edu	37	3	147113743	147113743	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:147113743A>T	ENST00000383075.3	-	3	1096	c.584T>A	c.(583-585)aTc>aAc	p.I195N	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.I195N|ZIC4_ENST00000425731.3_Missense_Mutation_p.I233N|ZIC4_ENST00000525172.2_Missense_Mutation_p.I245N|ZIC4_ENST00000473123.1_Missense_Mutation_p.I195N	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	195						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTGCACGCGGATGTGATTTAC	0.537000													112	63					0	0	0.870114	0	0
OR5M1	390168	broad.mit.edu	37	11	56380351	56380351	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:56380351A>C	ENST00000526538.1	-	1	627	c.628T>G	c.(628-630)Tct>Gct	p.S210A		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	210					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						ATGAAGAGAGAGCTTGAGAGA	0.458000													5	84					0	0	0.217242	0	0
SLC7A2	6542	broad.mit.edu	37	8	17419520	17419520	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:17419520C>A	ENST00000470360.1	+	12	1806	c.1689C>A	c.(1687-1689)gcC>gcA	p.A563A	SLC7A2_ENST00000494857.1_Silent_p.A524A|SLC7A2_ENST00000004531.10_Silent_p.A564A|SLC7A2_ENST00000522656.1_Silent_p.A524A|SLC7A2_ENST00000398090.3_Silent_p.A563A			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	524					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGCTGGAGGCCTGGAGCCTCG	0.547000													20	29					9.86323e-18	1.53337e-17	0.667858	1	0
IFI16	3428	broad.mit.edu	37	1	159023359	159023359	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:159023359C>G	ENST00000295809.7	+	11	2377	c.2122C>G	c.(2122-2124)Caa>Gaa	p.Q708E	IFI16_ENST00000340979.6_Missense_Mutation_p.Q596E|IFI16_ENST00000448393.2_Missense_Mutation_p.Q596E|IFI16_ENST00000359709.3_Missense_Mutation_p.Q652E|IFI16_ENST00000368131.4_Missense_Mutation_p.Q652E|IFI16_ENST00000430894.2_Missense_Mutation_p.Q656E|IFI16_ENST00000368132.3_Missense_Mutation_p.Q652E			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	708	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TTATGAAATACAAGATAATAC	0.358000													4	31					0	0	0.184627	0	0
DAAM2	23500	broad.mit.edu	37	6	39866660	39866660	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:39866660G>C	ENST00000538976.1	+	22	2808	c.2626G>C	c.(2626-2628)Gaa>Caa	p.E876Q	DAAM2_ENST00000274867.4_Missense_Mutation_p.E876Q|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.E876Q	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	876	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGCCTAGCAGAACTGGAGAA	0.592000													5	7					0	0	0.217242	0	0
SOS1	6654	broad.mit.edu	37	2	39222290	39222290	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:39222290G>T	ENST00000426016.1	-	21	3406	c.3320C>A	c.(3319-3321)tCc>tAc	p.S1107Y	SOS1_ENST00000395038.2_Missense_Mutation_p.S1107Y|SOS1_ENST00000402219.2_Missense_Mutation_p.S1107Y			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1107					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CGAATGATCGGAATCAAATAC	0.413000									Noonan syndrome				24	12					5.61819e-17	8.66202e-17	0.693898	1	0
SYTL4	94121	broad.mit.edu	37	X	99943358	99943358	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:99943358C>G	ENST00000372981.1	-	10	1181	c.995G>C	c.(994-996)gGc>gCc	p.G332A	SYTL4_ENST00000455616.1_Missense_Mutation_p.G332A|SYTL4_ENST00000276141.6_Missense_Mutation_p.G332A|SYTL4_ENST00000372989.1_Missense_Mutation_p.G332A|SYTL4_ENST00000454200.2_Missense_Mutation_p.G334A|SYTL4_ENST00000263033.5_Missense_Mutation_p.G332A			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	332					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATGGAGGAGCCACTTTGCAT	0.458000													21	65					0	0	0.654019	0	0
CHL1	10752	broad.mit.edu	37	3	384665	384665	+	Splice_Site	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:384665A>T	ENST00000256509.2	+	8	1321		c.e8-1		CHL1_ENST00000397491.2_Intron	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like						axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTTTATTTCAGTAAAGCATG	0.328000													15	15					0	0	0.500413	0	0
FSTL5	56884	broad.mit.edu	37	4	163032429	163032429	+	Silent	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:163032429T>A	ENST00000306100.5	-	2	556	c.120A>T	c.(118-120)cgA>cgT	p.R40R	FSTL5_ENST00000427802.2_Silent_p.R40R|FSTL5_ENST00000379164.4_Silent_p.R40R|FSTL5_ENST00000536695.1_Silent_p.R40R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	40						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTACCTTATGTCGCAATCTCA	0.388000													17	45					0	0	0.592651	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482755	76482755	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:76482755G>T	ENST00000307431.8	+	7	1216	c.831G>T	c.(829-831)caG>caT	p.Q277H	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q253H|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.Q281H|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q277H	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	278	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGCTCATCCAGCGTTTGGGCA	0.478000													14	11					6.72482e-11	9.18713e-11	0.479597	1	0
CBFB	865	broad.mit.edu	37	16	67070584	67070584	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:67070584C>T	ENST00000290858.6	+	3	469	c.208C>T	c.(208-210)Ccg>Tcg	p.P70S	CBFB_ENST00000412916.2_Missense_Mutation_p.P70S|CBFB_ENST00000561924.2_5'UTR	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	70					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		CCAGTTTTTTCCGGCCAGCTG	0.428000			T	MYH11	AML								10	12					0	0	0.435327	0	0
RETSAT	54884	broad.mit.edu	37	2	85570899	85570899	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:85570899G>A	ENST00000295802.4	-	10	1668	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F	RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Silent_p.I463I|RETSAT_ENST00000457495.2_Missense_Mutation_p.S458F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	519					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GGTGAGTGGGGATCCTGCAGT	0.612000													3	15					0	0	0.150653	0	0
CD8A	925	broad.mit.edu	37	2	87013080	87013080	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:87013080G>T	ENST00000409511.2	-	9	1701	c.671C>A	c.(670-672)tCg>tAg	p.S224*	CD8A_ENST00000456996.2_Nonsense_Mutation_p.S187*|CD8A_ENST00000409781.1_Nonsense_Mutation_p.S187*|CD8A_ENST00000352580.3_Nonsense_Mutation_p.S187*|CD8A_ENST00000283635.3_Nonsense_Mutation_p.S224*|CD8A_ENST00000538832.1_Nonsense_Mutation_p.S265*	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	224					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CTTGTCTCCCGATTTGACCAC	0.547000													22	63					3.5997e-14	5.24644e-14	0.624587	1	0
SRPX2	27286	broad.mit.edu	37	X	99920563	99920563	+	Silent	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:99920563T>A	ENST00000373004.3	+	7	1118	c.690T>A	c.(688-690)tcT>tcA	p.S230S		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	230	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						AGCCTGGCTCTCACTTTCCCG	0.522000													55	69					0	0	0.870114	0	0
DPP10	57628	broad.mit.edu	37	2	116599815	116599815	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:116599815C>T	ENST00000410059.1	+	26	2765	c.2285C>T	c.(2284-2286)tCt>tTt	p.S762F	DPP10_ENST00000310323.8_Missense_Mutation_p.S755F|DPP10_ENST00000393147.2_Missense_Mutation_p.S766F|DPP10_ENST00000409163.1_Missense_Mutation_p.S712F	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	762					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CATAACGTATCTGAGAAGAGC	0.383000													5	48					0	0	0.184627	0	0
COL11A1	1301	broad.mit.edu	37	1	103345291	103345291	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:103345291T>C	ENST00000358392.2	-	66	5575	c.5258A>G	c.(5257-5259)gAg>gGg	p.E1753G	COL11A1_ENST00000353414.4_Missense_Mutation_p.E1702G|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1625G|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1741G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1741	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATAGGACATCTCCTCATCATT	0.428000													22	22					0	0	0.639603	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892280	72892280	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:72892280C>A	ENST00000339594.4	-	7	1849	c.1511G>T	c.(1510-1512)cGt>cTt	p.R504L	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R504L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	504	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGAGAGAAGACGAGCTGTTTT	0.473000													21	48					8.10497e-08	1.03171e-07	0.592651	1	0
MBL2	4153	broad.mit.edu	37	10	54530522	54530522	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:54530522C>T	ENST00000373968.3	-	2	276	c.212G>A	c.(211-213)gGc>gAc	p.G71D	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	71	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCCAGGGGGGCCCTGTAAGCC	0.522000													5	93					0	0	0.248553	0	0
DSC3	1825	broad.mit.edu	37	18	28588383	28588383	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:28588383C>A	ENST00000434452.1	-	10	1526	c.1372G>T	c.(1372-1374)Gtt>Ttt	p.V458F	DSC3_ENST00000360428.4_Missense_Mutation_p.V458F	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	458	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGAACTGTAACCAAGGCTCTG	0.453000													9	18					0.000274275	0.000302767	0.307466	1	0
SALL1	6299	broad.mit.edu	37	16	51175296	51175296	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:51175296G>T	ENST00000440970.1	-	2	977	c.546C>A	c.(544-546)gcC>gcA	p.A182A	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.A279A	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	279					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACAAGGGGTTGGCAGATGTTC	0.498000													30	33					1.22384e-17	1.89909e-17	0.769981	1	0
T	6862	broad.mit.edu	37	6	166571813	166571813	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:166571813G>T	ENST00000296946.2	-	9	1766	c.1298C>A	c.(1297-1299)cCt>cAt	p.P433H	T_ENST00000366871.3_Missense_Mutation_p.P375H	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	433					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TCACATGGAAGGTGGCGACAC	0.607000									Chordoma, Familial Clustering of				8	51					0.00621372	0.00656153	0.335167	1	0
COL22A1	169044	broad.mit.edu	37	8	139606341	139606341	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:139606341C>A	ENST00000303045.6	-	63	4980	c.4534G>T	c.(4534-4536)Ggc>Tgc	p.G1512C	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1492C	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1512	Collagen-like 15.|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)			CCGGCCCGGCCTGGAAGCCCA	0.667000										HNSCC(7;0.00092)			20	18					2.27731e-05	2.64975e-05	0.608945	1	0
KIAA2022	340533	broad.mit.edu	37	X	73964218	73964218	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:73964218C>A	ENST00000373468.1	-	3	825	c.174G>T	c.(172-174)ctG>ctT	p.L58L	KIAA2022_ENST00000055682.5_Silent_p.L58L			Q5QGS0	K2022_HUMAN	KIAA2022	58					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGGATACATCAGGGTCTCTT	0.537000													18	17					1.33834e-09	1.77074e-09	0.557998	1	0
TTN	7273	broad.mit.edu	37	2	179615590	179615590	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:179615590G>T	ENST00000360870.5	-	46	11759	c.11537C>A	c.(11536-11538)aCt>aAt	p.T3846N	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9681							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)			TCCAATTGTAGTATTGGCCAT	0.378000													9	52					2.17888e-05	2.53875e-05	0.335167	1	0
COL11A1	1301	broad.mit.edu	37	1	103343664	103343664	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:103343664C>A	ENST00000358392.2	-	67	5685	c.5368G>T	c.(5368-5370)Gta>Tta	p.V1790L	COL11A1_ENST00000353414.4_Missense_Mutation_p.V1739L|COL11A1_ENST00000512756.1_Missense_Mutation_p.V1662L|COL11A1_ENST00000370096.3_Missense_Mutation_p.V1778L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1778	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACAATAGGTACTTGATCAATT	0.313000													20	10					2.4624e-09	3.23756e-09	0.575678	1	0
NPNT	255743	broad.mit.edu	37	4	106858224	106858224	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:106858224C>T	ENST00000379987.2	+	4	540	c.324C>T	c.(322-324)taC>taT	p.Y108Y	NPNT_ENST00000453617.2_Silent_p.Y125Y|NPNT_ENST00000427316.2_Silent_p.Y138Y|NPNT_ENST00000514622.1_Silent_p.Y108Y|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000305572.8_Silent_p.Y108Y|NPNT_ENST00000506666.1_Silent_p.Y138Y	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	108	EGF-like 2; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAACACTTACGGCAGCTACA	0.448000													3	16					0	0	0.335167	0	0
MPPED2	744	broad.mit.edu	37	11	30435856	30435856	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:30435856T>A	ENST00000448418.2	-	6	1045	c.685A>T	c.(685-687)Aga>Tga	p.R229*	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000358117.5_Nonsense_Mutation_p.R229*	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	229					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CAGCCCACTCTTTGAAGCTCC	0.448000													14	43					0	0	0.500413	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503688	140503688	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:140503688C>G	ENST00000194152.1	+	1	2108	c.2108C>G	c.(2107-2109)tCg>tGg	p.S703W		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		703					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTCTCGGTGCTCCTG	0.706000													25	41					0	0	0.769981	0	0
HERC2	8924	broad.mit.edu	37	15	28458898	28458898	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:28458898T>A	ENST00000261609.7	-	42	6884	c.6776A>T	c.(6775-6777)cAg>cTg	p.Q2259L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2259					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGTTTCAGCTGATTCAATGG	0.478000													30	13					0	0	0.788014	0	0
ERCC6L	54821	broad.mit.edu	37	X	71426904	71426904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:71426904G>T	ENST00000373657.1	-	3	1946	c.1344C>A	c.(1342-1344)taC>taA	p.Y448*	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Nonsense_Mutation_p.Y571*			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	571					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GTCCAATTCGGTAAACTCTAT	0.403000													12	89					7.03913e-09	9.14052e-09	0.411799	1	0
OR2AK2	391191	broad.mit.edu	37	1	248128913	248128913	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:248128913C>T	ENST00000366480.3	+	1	379	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CACCACAGTGCCCAAGATGGC	0.488000													45	91					0	0	0.870114	0	0
C10orf71	118461	broad.mit.edu	37	10	50531881	50531881	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:50531881G>T	ENST00000374144.3	+	3	1579	c.1291G>T	c.(1291-1293)Gtg>Ttg	p.V431L	C10orf71_ENST00000323868.4_Missense_Mutation_p.V431L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	431										endometrium(1)	1						TGACCTGCCTGTGGAACCCAA	0.488000													89	34					2.67636e-39	4.62305e-39	0.870114	1	0
IGLV6-57	28778	broad.mit.edu	37	22	22550386	22550386	+	RNA	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:22550386T>A	ENST00000390285.2	+	0	149																											GGGCCAATTTTATGCTGACTC	0.552000											OREG0026353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	4					0	0	0.278610	0	0
ZMYM4	9202	broad.mit.edu	37	1	35862195	35862195	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:35862195C>T	ENST00000314607.6	+	19	3034	c.2954C>T	c.(2953-2955)cCc>cTc	p.P985L	ZMYM4_ENST00000373297.2_Missense_Mutation_p.P896L	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	985					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGCCAGTTCCCGTACCAGTG	0.393000													37	39					0	0	0.827153	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056240	26056240	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:26056240C>T	ENST00000343677.2	-	1	459	c.417G>A	c.(415-417)aaG>aaA	p.K139K		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	139					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CAGCCGCCTTCTTGGGCTTCT	0.567000													18	16					0	0	0.812448	0	0
TRBV27	28560	broad.mit.edu	37	7	142423192	142423192	+	RNA	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:142423192G>T	ENST00000506718.1	+	0	401				TRBV27_ENST00000390399.3_RNA																							CCCCAGAACTGGCAGACACCT	0.537000													4	45					0.00024832	0.000275565	0.150653	1	0
SLITRK4	139065	broad.mit.edu	37	X	142718751	142718751	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:142718751C>A	ENST00000381779.4	-	2	399	c.174G>T	c.(172-174)tgG>tgT	p.W58C	SLITRK4_ENST00000338017.4_Missense_Mutation_p.W58C|SLITRK4_ENST00000356928.1_Missense_Mutation_p.W58C	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	58						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAATTAGACCAAGGTGGTT	0.368000													23	36					1.22574e-08	1.58553e-08	0.624587	1	0
DLG5	9231	broad.mit.edu	37	10	79626858	79626858	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:79626858C>G	ENST00000372387.1	+	1	226	c.155C>G	c.(154-156)tCa>tGa	p.S52*	DLG5_ENST00000372391.2_Intron|DLG5_ENST00000372388.2_Intron																							AGGACTGAGTCAGCTTCAGGT	0.542000													4	4					0	0	0.150653	0	0
TP63	8626	broad.mit.edu	37	3	189585695	189585695	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:189585695G>T	ENST00000264731.3	+	7	1045	c.956G>T	c.(955-957)cGt>cTt	p.R319L	TP63_ENST00000354600.5_Missense_Mutation_p.R225L|TP63_ENST00000449992.1_Missense_Mutation_p.R140L|TP63_ENST00000456148.1_Missense_Mutation_p.R225L|TP63_ENST00000392463.2_Missense_Mutation_p.R225L|TP63_ENST00000392461.3_Missense_Mutation_p.R225L|TP63_ENST00000418709.2_Missense_Mutation_p.R319L|TP63_ENST00000392460.3_Missense_Mutation_p.R319L|TP63_ENST00000437221.1_Missense_Mutation_p.R225L|TP63_ENST00000320472.5_Missense_Mutation_p.R319L|TP63_ENST00000440651.2_Missense_Mutation_p.R319L|TP63_ENST00000382063.4_Missense_Mutation_p.R234L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	319			R -> C (in EEC3).|R -> H (in EEC3 and SHFM4).|R -> S (in EEC3).		anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATGAACCGCCGTCCAATTTTA	0.403000										HNSCC(45;0.13)			11	28					7.93312e-07	9.70117e-07	0.457914	1	0
MED12	9968	broad.mit.edu	37	X	70347242	70347242	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:70347242G>C	ENST00000333646.6	+	21	3105	c.2906G>C	c.(2905-2907)cGc>cCc	p.R969P	MED12_ENST00000374080.3_Missense_Mutation_p.R969P|MED12_ENST00000374102.1_Missense_Mutation_p.R969P	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	969					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCTGCAGAGCGCTGTATCCTT	0.517000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	60					0	0	0.248553	0	0
SLX4	84464	broad.mit.edu	37	16	3658545	3658545	+	Missense_Mutation	SNP	C	C	A	rs137976282	byFrequency	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:3658545C>A	ENST00000294008.3	-	2	1061	c.421G>T	c.(421-423)Ggg>Tgg	p.G141W		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	141	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGCACACCCCCCTCCCCATTC	0.557000								Direct reversal of damage					8	16					0.0381472	0.039294	0.278610	1	0
RASGRF2	5924	broad.mit.edu	37	5	80381625	80381625	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:80381625C>G	ENST00000265080.4	+	8	1233	c.1166C>G	c.(1165-1167)cCc>cGc	p.P389R	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	389	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.P389H(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCTAGATCCCCAGATATATC	0.498000													44	47					0	0	0.870114	0	0
SLC35D1	23169	broad.mit.edu	37	1	67470088	67470088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:67470088C>A	ENST00000235345.5	-	12	1088	c.1003G>T	c.(1003-1005)Gag>Tag	p.E335*		NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	335					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	CTCAGCTGCTCTTCAGTGAAA	0.458000													21	29					3.73808e-20	5.94341e-20	0.693898	1	0
RORA	6095	broad.mit.edu	37	15	60803725	60803725	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:60803725G>C	ENST00000335670.6	-	5	620	c.520C>G	c.(520-522)Cag>Gag	p.Q174E	RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.Q119E|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.Q207E|RORA_ENST00000309157.4_Missense_Mutation_p.Q199E	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	207	Hinge.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCAGGCTGCTGCTGGTGGTCG	0.552000													4	24					0	0	0.217242	0	0
FAIM	55179	broad.mit.edu	37	3	138340324	138340324	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:138340324G>C	ENST00000338446.4	+	3	839	c.156G>C	c.(154-156)aaG>aaC	p.K52N	FAIM_ENST00000393035.2_Missense_Mutation_p.K18N|FAIM_ENST00000464668.1_Missense_Mutation_p.K18N|FAIM_ENST00000393034.2_Missense_Mutation_p.K18N|FAIM_ENST00000360570.3_Missense_Mutation_p.K40N	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	18					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						GAGTCCACAAGATCGAATTTG	0.358000													11	50					0	0	0.411799	0	0
CXorf66	347487	broad.mit.edu	37	X	139038138	139038138	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:139038138C>A	ENST00000370540.1	-	3	1026	c.1003G>T	c.(1003-1005)Gag>Tag	p.E335*		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	335						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						CTGTCAACCTCACTATAATAT	0.378000													9	65					1.12685e-05	1.32957e-05	0.307466	1	0
KIF24	347240	broad.mit.edu	37	9	34255866	34255866	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:34255866T>A	ENST00000379166.2	-	11	3858	c.3739A>T	c.(3739-3741)Aac>Tac	p.N1247Y	KIF24_ENST00000402558.2_Missense_Mutation_p.N1247Y|KIF24_ENST00000379174.3_Missense_Mutation_p.N1113Y|KIF24_ENST00000345050.2_Missense_Mutation_p.N1113Y	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1247					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTTCACTGTTGCAGGGCAAC	0.542000											OREG0019148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	12					0	0	0.812448	0	0
TTC23	64927	broad.mit.edu	37	15	99696448	99696448	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:99696448C>A	ENST00000394132.2	-	12	1865	c.1048G>T	c.(1048-1050)Gat>Tat	p.D350Y	TTC23_ENST00000394135.3_Missense_Mutation_p.D350Y|TTC23_ENST00000394136.1_Missense_Mutation_p.D350Y|TTC23_ENST00000394130.1_Missense_Mutation_p.D350Y|TTC23_ENST00000262074.4_Missense_Mutation_p.D350Y|TTC23_ENST00000558613.1_Missense_Mutation_p.D350Y|TTC23_ENST00000558663.1_Missense_Mutation_p.D350Y|TTC23_ENST00000394129.2_Missense_Mutation_p.D350Y			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	350							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GGACTGAAATCGCCAAATGCT	0.537000													18	15					1.01871e-10	1.38383e-10	0.575678	1	0
DMD	1756	broad.mit.edu	37	X	32486717	32486717	+	Silent	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:32486717T>A	ENST00000357033.4	-	23	3266	c.3060A>T	c.(3058-3060)tcA>tcT	p.S1020S	DMD_ENST00000378677.2_Silent_p.S1016S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1020					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTCAAATTCTGATTGATATT	0.438000													9	24					0	0	0.307466	0	0
CNTN4	152330	broad.mit.edu	37	3	2944634	2944634	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:2944634T>A	ENST00000397461.1	+	11	1536	c.1152T>A	c.(1150-1152)tgT>tgA	p.C384*	CNTN4_ENST00000397459.2_Nonsense_Mutation_p.C56*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.C384*|CNTN4_ENST00000358480.3_Nonsense_Mutation_p.C165*|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Nonsense_Mutation_p.C56*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.C384*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	384	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGTATCAGTGTTTGGCAGAGA	0.348000													8	25					0	0	0.307466	0	0
QDPR	5860	broad.mit.edu	37	4	17510895	17510895	+	Splice_Site	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:17510895T>A	ENST00000281243.5	-	2	376	c.198_splice	c.e2+1	p.Q66_splice	QDPR_ENST00000428702.2_Intron|QDPR_ENST00000508623.1_Splice_Site_p.Q66_splice|QDPR_ENST00000513615.1_Splice_Site_p.Q66_splice	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	66			Q -> R (in HPABH4C; severe).		dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	TGAAACTACCTGGTCAGCCTG	0.498000													7	31					0	0	0.248553	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612190	79612190	+	RNA	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:79612190C>T	ENST00000328585.4	+	0	299				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCTTCCCTCTCCCCAGGGAGC	0.667000													9	6					0	0	0.387290	0	0
MICAL1	64780	broad.mit.edu	37	6	109771184	109771184	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:109771184C>G	ENST00000368952.4	-	9	1643	c.1353G>C	c.(1351-1353)gtG>gtC	p.V451V	MICAL1_ENST00000358577.3_Silent_p.V346V|MICAL1_ENST00000358807.3_Silent_p.V432V			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	432					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCTCAGCCAACACCTCTAGGG	0.617000													39	19					0	0	0.870114	0	0
ZNF566	84924	broad.mit.edu	37	19	36964265	36964265	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:36964265C>A	ENST00000454319.1	-	3	239	c.105G>T	c.(103-105)atG>atT	p.M35I	ZNF566_ENST00000424129.2_Missense_Mutation_p.M35I|ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000392170.2_Missense_Mutation_p.M35I|ZNF566_ENST00000434377.2_Missense_Mutation_p.M35I	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					AATTCTCCAACATCACATCTC	0.443000													7	94					0.00198382	0.00212561	0.248553	1	0
NUDT7	283927	broad.mit.edu	37	16	77769779	77769779	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:77769779G>A	ENST00000268533.5	+	3	313	c.244G>A	c.(244-246)Gac>Aac	p.D82N	NUDT7_ENST00000568787.1_Missense_Mutation_p.D82N|NUDT7_ENST00000564085.1_Missense_Mutation_p.D82N|NUDT7_ENST00000437314.3_Intron|NUDT7_ENST00000563839.1_Intron	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	82	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TGACCCTACAGACATGGATGA	0.527000													46	23					0	0	0.870114	0	0
FAM71B	153745	broad.mit.edu	37	5	156590429	156590429	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:156590429C>A	ENST00000302938.4	-	2	942	c.847G>T	c.(847-849)Gca>Tca	p.A283S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	283	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGCTATTGCCACATCTGTT	0.582000													20	34					1.55795e-14	2.27658e-14	0.608945	1	0
FGF12	2257	broad.mit.edu	37	3	192053158	192053158	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:192053158A>G	ENST00000454309.2	-	3	1231	c.406T>C	c.(406-408)Tac>Cac	p.Y136H	FGF12_ENST00000430714.1_Missense_Mutation_p.Y37H|FGF12_ENST00000264730.3_Missense_Mutation_p.Y74H|FGF12_ENST00000450716.1_Missense_Mutation_p.Y74H|FGF12_ENST00000445105.1_Missense_Mutation_p.Y74H	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	136					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		ACTGAACTGTAGAGATAGCCT	0.458000													6	79					0	0	0.278610	0	0
HMCN1	83872	broad.mit.edu	37	1	186007994	186007994	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:186007994C>T	ENST00000271588.4	+	38	6114	c.5885C>T	c.(5884-5886)tCa>tTa	p.S1962L	HMCN1_ENST00000367492.2_Missense_Mutation_p.S1962L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1962	Ig-like C2-type 17.				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						CGTCTACTCTCAGGTTCCACC	0.363000													14	91					0	0	0.500413	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733193	106733193	+	RNA	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:106733193T>C	ENST00000390610.2	-	0	361																											GCTGCTCAGCTCCATGTAGGC	0.512000													7	335					0	0	0.278610	0	0
TTN	7273	broad.mit.edu	37	2	179457668	179457668	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:179457668C>A	ENST00000589042.1	-	300	59402	c.59178G>T	c.(59176-59178)gaG>gaT	p.E19726D	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10786D|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18085D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17158D|TTN_ENST00000342175.6_Missense_Mutation_p.E10853D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10661D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18085	Fibronectin type-III 43.						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)			CTCTTCTCCACTCTTCATCTC	0.453000													52	64					2.27459e-33	3.88904e-33	0.870114	1	0
STK26	51765	broad.mit.edu	37	X	131202584	131202584	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:131202584C>G	ENST00000394334.2	+	6	837	c.584C>G	c.(583-585)gCt>gGt	p.A195G	MST4_ENST00000394335.2_Missense_Mutation_p.A118G|MST4_ENST00000496850.1_Missense_Mutation_p.A195G|MST4_ENST00000354719.6_Missense_Mutation_p.A195G|MST4_ENST00000481105.1_Missense_Mutation_p.A217G	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		195	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CAACAGTCAGCTTATGACTCA	0.353000													35	41					0	0	0.804634	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125622900	125622900	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:125622900T>A	ENST00000431078.1	+	20	3596	c.3232T>A	c.(3232-3234)Tat>Aat	p.Y1078N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1078	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACAGGTTCGCTATCACCTAAA	0.348000													15	13					0	0	0.500413	0	0
SUV39H2	79723	broad.mit.edu	37	10	14938888	14938888	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:14938888C>T	ENST00000313519.5	+	2	272	c.41C>T	c.(40-42)tCt>tTt	p.S14F	SUV39H2_ENST00000354919.6_Missense_Mutation_p.S74F|SUV39H2_ENST00000378325.3_Missense_Mutation_p.S74F	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	74					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TGGCCAGATTCTACAAATACT	0.343000													12	26					0	0	0.457914	0	0
ANK2	287	broad.mit.edu	37	4	114290761	114290761	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:114290761C>A	ENST00000357077.4	+	43	11463	c.11410C>A	c.(11410-11412)Cct>Act	p.P3804T	ANK2_ENST00000509550.1_Missense_Mutation_p.P895T|ANK2_ENST00000264366.6_Missense_Mutation_p.P3771T|ANK2_ENST00000510275.2_Missense_Mutation_p.P371T|ANK2_ENST00000394537.3_Missense_Mutation_p.P1719T|ANK2_ENST00000506722.1_Missense_Mutation_p.P1710T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3771					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTTAGCACCCCTGCAGAGGA	0.542000													44	48					1.97e-11	2.73132e-11	0.853193	1	0
SP100	6672	broad.mit.edu	37	2	231359138	231359138	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:231359138G>C	ENST00000264052.5	+	18	1963	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N	SP100_ENST00000409112.1_Missense_Mutation_p.K536N|SP100_ENST00000340126.4_Missense_Mutation_p.K536N	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	536					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAGGAAAAAAGAGAAGGCATA	0.348000													6	22					0	0	0.217242	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090744	238090744	+	RNA	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:238090744G>C	ENST00000450451.1	+	0	2250					NR_027247.2																						TCACCACCTCGGCCCAGCGGG	0.622000													3	19					0	0	0.115264	0	0
MYO7A	4647	broad.mit.edu	37	11	76916516	76916516	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:76916516G>A	ENST00000409709.3	+	40	5762	c.5490G>A	c.(5488-5490)gaG>gaA	p.E1830E	MYO7A_ENST00000458637.2_Silent_p.E1792E|MYO7A_ENST00000409619.2_Silent_p.E1781E|MYO7A_ENST00000605744.1_Intron	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1830	MyTH4 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGTACAGCGAGGAGCGGGGTT	0.672000													2	1					0	0	0.150653	0	0
CGRRF1	10668	broad.mit.edu	37	14	54976777	54976777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:54976777G>T	ENST00000216420.7	+	1	232	c.100G>T	c.(100-102)Gga>Tga	p.G34*		NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	34					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						CCTGGTATTGGGATGGTAAGT	0.622000											OREG0022692	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	50					0.00198382	0.00212561	0.248553	1	0
DLGAP1	9229	broad.mit.edu	37	18	3879381	3879381	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:3879381G>A	ENST00000315677.3	-	4	1283	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	DLGAP1_ENST00000584874.1_Missense_Mutation_p.R230C|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R230C|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R230C	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	230					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAGGCCGAGCGGTCGGGGCAC	0.652000													9	71					0	0	0.361761	0	0
RP1L1	94137	broad.mit.edu	37	8	10467204	10467204	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:10467204C>A	ENST00000382483.3	-	4	4627	c.4404G>T	c.(4402-4404)caG>caT	p.Q1468H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1468					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGAGCCACTCTGCCTCTCGC	0.657000													20	34					1.50039e-11	2.08712e-11	0.608945	1	0
RYR1	6261	broad.mit.edu	37	19	38995653	38995653	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:38995653C>A	ENST00000355481.4	+	52	8373	c.8242C>A	c.(8242-8244)Ccg>Acg	p.P2748T	RYR1_ENST00000360985.3_Missense_Mutation_p.P2748T|RYR1_ENST00000359596.3_Missense_Mutation_p.P2748T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2748	6 X approximate repeats.				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)	TGTGATCATCCCGGAGAAGCT	0.567000													14	13					4.75885e-15	7.07715e-15	0.520397	1	0
TTN	7273	broad.mit.edu	37	2	179422842	179422842	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:179422842C>G	ENST00000589042.1	-	328	87463	c.87239G>C	c.(87238-87240)aGa>aCa	p.R29080T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20140T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R27439T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26512T|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20207T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20015T|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27439	Fibronectin type-III 112.						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)			GACACCATCTCTTGATAAGGT	0.418000													12	81					0	0	0.387290	0	0
WRN	7486	broad.mit.edu	37	8	30974033	30974033	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:30974033G>T	ENST00000298139.5	+	20	2686	c.2437G>T	c.(2437-2439)Gat>Tat	p.D813Y		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	813	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GTTTGTAAGAGATGAAATTCA	0.373000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				15	9					7.05477e-17	1.0857e-16	0.520397	1	0
OR5M3	219482	broad.mit.edu	37	11	56237710	56237710	+	Silent	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:56237710T>C	ENST00000312240.2	-	1	304	c.264A>G	c.(262-264)aaA>aaG	p.K88K		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AAGTAATTGTTTTTTTATCTG	0.363000													6	57					0	0	0.278610	0	0
MROH2B	133558	broad.mit.edu	37	5	41019047	41019047	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:41019047G>T	ENST00000399564.4	-	25	2965	c.2515C>A	c.(2515-2517)Ctt>Att	p.L839I	MROH2B_ENST00000506092.2_Missense_Mutation_p.L394I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGAGGTGGAAGGGGCAGCAGC	0.473000													61	46					1.1362e-29	1.91534e-29	0.870114	1	0
ARHGAP6	395	broad.mit.edu	37	X	11308505	11308505	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:11308505G>A	ENST00000380732.3	-	2	681	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000413512.3_Intron			O43182	RHG06_HUMAN	Rho GTPase activating protein 6	196					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						cacaatacctgatttctAAGG	0.393000													14	96					0	0	0.539581	0	0
PTPN13	5783	broad.mit.edu	37	4	87703391	87703391	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:87703391C>T	ENST00000436978.1	+	37	6495	c.6015C>T	c.(6013-6015)ctC>ctT	p.L2005L	PTPN13_ENST00000427191.2_Silent_p.L1981L|PTPN13_ENST00000511467.1_Silent_p.L2005L|PTPN13_ENST00000316707.6_Silent_p.L1809L|PTPN13_ENST00000411767.2_Silent_p.L2000L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2000						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGCCTGCCCTCACTCCTAATG	0.458000													14	33					0	0	0.479597	0	0
PAPLN	89932	broad.mit.edu	37	14	73725692	73725692	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:73725692C>T	ENST00000427855.1	+	15	1735	c.1633C>T	c.(1633-1635)Ccc>Tcc	p.P545S	PAPLN_ENST00000340738.5_Missense_Mutation_p.P518S|PAPLN_ENST00000554301.1_Missense_Mutation_p.P545S|PAPLN_ENST00000381166.3_Missense_Mutation_p.P545S|PAPLN_ENST00000555445.1_Missense_Mutation_p.P545S			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	545						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGCAGAGGTCCCCAGCATGCA	0.672000													6	14					0	0	0.248553	0	0
TRIM33	51592	broad.mit.edu	37	1	114940381	114940381	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:114940381C>G	ENST00000358465.2	-	20	3356	c.3273G>C	c.(3271-3273)gaG>gaC	p.E1091D	TRIM33_ENST00000369543.2_Missense_Mutation_p.E1074D|TRIM33_ENST00000450349.2_Missense_Mutation_p.E723D	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1091					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		CCTGCTCAAACTCTGGCAAAG	0.468000			T	RET	papillary thyroid								4	42					0	0	0.184627	0	0
ELF1	1997	broad.mit.edu	37	13	41517129	41517129	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:41517129G>T	ENST00000239882.3	-	7	1079	c.765C>A	c.(763-765)aaC>aaA	p.N255K	ELF1_ENST00000442101.1_Missense_Mutation_p.N231K|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	255					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TATCAGGTTTGTTTTTGTGCT	0.368000													6	27					2.0095e-06	2.42381e-06	0.248553	1	0
ORMDL3	94103	broad.mit.edu	37	17	38078829	38078829	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:38078829G>A	ENST00000394169.1	-	6	1930	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ORMDL3_ENST00000579695.1_Missense_Mutation_p.R146W|ORMDL3_ENST00000304046.2_Missense_Mutation_p.R146W|ORMDL3_ENST00000584220.1_Missense_Mutation_p.R130W			Q8N138	ORML3_HUMAN	ORM1-like 3 (S. cerevisiae)	146					ceramide metabolic process	integral to membrane|SPOTS complex	protein binding			endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CCAAAAATCCGGACTCCGTGG	0.547000													4	93					0	0	0.184627	0	0
XIRP1	165904	broad.mit.edu	37	3	39230525	39230525	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:39230525T>A	ENST00000340369.3	-	2	640	c.412A>T	c.(412-414)Agc>Tgc	p.S138C	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.S138C	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	138							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGTCTGTGCTGTTGGCAAAG	0.617000													3	18					0	0	0.115264	0	0
KIAA0586	9786	broad.mit.edu	37	14	58956902	58956902	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:58956902T>C	ENST00000423743.3	+	26	3928	c.3670T>C	c.(3670-3672)Tac>Cac	p.Y1224H	KIAA0586_ENST00000261244.5_Missense_Mutation_p.Y1192H|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.Y1321H|KIAA0586_ENST00000556134.1_Missense_Mutation_p.Y1253H	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1192										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TATAGGACTGTACCTGACAAA	0.323000													3	7					0	0	0.115264	0	0
GPBP1	65056	broad.mit.edu	37	5	56558438	56558438	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:56558438G>A	ENST00000424459.3	+	13	2615	c.1341G>A	c.(1339-1341)ctG>ctA	p.L447L	GPBP1_ENST00000514387.2_Silent_p.L256L|GPBP1_ENST00000538707.1_Silent_p.L434L|GPBP1_ENST00000506184.2_Silent_p.L427L|GPBP1_ENST00000264779.6_Silent_p.L434L|GPBP1_ENST00000511209.1_Silent_p.L419L|GPBP1_ENST00000454432.2_Silent_p.L447L	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AGAATGGTCTGAGAAAAAATG	0.323000													7	26					0	0	0.361761	0	0
TRIM42	287015	broad.mit.edu	37	3	140407130	140407130	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:140407130A>C	ENST00000286349.3	+	3	1797	c.1606A>C	c.(1606-1608)Agc>Cgc	p.S536R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	536						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATACCAGCGAAGCTCCTCCAT	0.592000													22	105					0	0	0.654019	0	0
IGBP1	3476	broad.mit.edu	37	X	69353825	69353825	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:69353825C>G	ENST00000342206.6	+	1	527	c.28C>G	c.(28-30)Ccg>Gcg	p.P10A	IGBP1_ENST00000356413.4_Missense_Mutation_p.P10A			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	10					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	p.P10S(1)		kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						GTTACAGCTGCCGCGGCTCCC	0.547000											OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	8					0	0	0.184627	0	0
TMED5	50999	broad.mit.edu	37	1	93625730	93625730	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:93625730G>A	ENST00000370282.3	-	2	728	c.243C>T	c.(241-243)ggC>ggT	p.G81G	TMED5_ENST00000370280.1_Silent_p.G81G|TMED5_ENST00000479918.1_Silent_p.G81G|TMED5_ENST00000483033.1_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	81	GOLD.				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		CTAAGGTTTTGCCTTCTGGAG	0.343000													10	12					0	0	0.457914	0	0
CACNA1C	775	broad.mit.edu	37	12	2224636	2224636	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:2224636G>C	ENST00000399655.1	+	2	561	c.296G>C	c.(295-297)cGc>cCc	p.R99P	CACNA1C_ENST00000344100.3_Missense_Mutation_p.R99P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R99P|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R99P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R99P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R99P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R99P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R99P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R99P	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	99					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACGGCCACACGCCCGCCCCGA	0.627000													12	10					0	0	0.435327	0	0
ENPP7	339221	broad.mit.edu	37	17	77708904	77708904	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:77708904G>T	ENST00000328313.5	+	3	683	c.462G>T	c.(460-462)gtG>gtT	p.V154V		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	154					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGGTGGCTGTGACGCGGAGCC	0.592000													20	2					7.45023e-12	1.04241e-11	0.592651	1	0
SCN5A	6331	broad.mit.edu	37	3	38592978	38592978	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:38592978G>T	ENST00000413689.1	-	28	5078	c.4885C>A	c.(4885-4887)Cga>Aga	p.R1629R	SCN5A_ENST00000443581.1_Silent_p.R1628R|SCN5A_ENST00000425664.1_Silent_p.R1611R|SCN5A_ENST00000423572.2_Silent_p.R1628R|SCN5A_ENST00000414099.2_Silent_p.R1611R|SCN5A_ENST00000455624.2_Silent_p.R1596R|SCN5A_ENST00000451551.2_Silent_p.R1575R|SCN5A_ENST00000333535.4_Silent_p.R1629R|SCN5A_ENST00000450102.2_Silent_p.R1575R|SCN5A_ENST00000449557.2_Silent_p.R1575R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1629					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGCCTATTCGGGCCAGGCGG	0.592000													23	88					7.26314e-15	1.0716e-14	0.717897	1	0
CPT1B	1375	broad.mit.edu	37	22	51010693	51010693	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:51010693T>C	ENST00000360719.2	-	12	1534	c.1397A>G	c.(1396-1398)cAg>cGg	p.Q466R	CPT1B_ENST00000457250.1_Missense_Mutation_p.Q432R|CPT1B_ENST00000434492.2_Missense_Mutation_p.Q263R|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.Q466R|CPT1B_ENST00000440709.1_Missense_Mutation_p.Q385R|CPT1B_ENST00000312108.7_Missense_Mutation_p.Q466R|CPT1B_ENST00000395650.2_Missense_Mutation_p.Q466R	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	466					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GAGACCCAACTGGCCATTCTT	0.527000													6	6					0	0	0.248553	0	0
PDCD4	27250	broad.mit.edu	37	10	112641182	112641182	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:112641182G>T	ENST00000393104.2	+	4	562	c.202G>T	c.(202-204)Gac>Tac	p.D68Y	PDCD4_ENST00000280154.7_Missense_Mutation_p.D79Y	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	79					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TTCGGTCAGCGACAGTGGGAG	0.512000													11	18					3.07112e-06	3.67265e-06	0.387290	1	0
MZF1	7593	broad.mit.edu	37	19	59080680	59080680	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:59080680G>A	ENST00000215057.2	-	5	1296	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	MZF1_ENST00000594108.1_Silent_p.L246L|MZF1_ENST00000594234.1_Silent_p.L246L|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Silent_p.L246L|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	246					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TCATGCCACAGGGCCCTGGGG	0.612000													29	26					0	0	0.740014	0	0
CCDC108	255101	broad.mit.edu	37	2	219886503	219886503	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:219886503G>T	ENST00000341552.5	-	18	3212	c.3130_splice	c.e18+1	p.L1043_splice	CCDC108_ENST00000453220.1_Splice_Site_p.L1043_splice|CCDC108_ENST00000441968.1_Splice_Site_p.L1043_splice	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1043						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAAGTACCGAGGGGGTGGT	0.622000													3	16					1.23904e-05	1.45683e-05	0.184627	1	0
ANK2	287	broad.mit.edu	37	4	114290873	114290873	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:114290873C>A	ENST00000357077.4	+	43	11575	c.11522C>A	c.(11521-11523)cCg>cAg	p.P3841Q	ANK2_ENST00000509550.1_Missense_Mutation_p.P932Q|ANK2_ENST00000264366.6_Missense_Mutation_p.P3808Q|ANK2_ENST00000510275.2_Missense_Mutation_p.P408Q|ANK2_ENST00000394537.3_Missense_Mutation_p.P1756Q|ANK2_ENST00000506722.1_Missense_Mutation_p.P1747Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3808					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGAGCTCTCCGCGGAAAACC	0.537000													39	35					2.38352e-08	3.07132e-08	0.796494	1	0
ATP7A	538	broad.mit.edu	37	X	77296122	77296122	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:77296122C>A	ENST00000341514.6	+	19	3847	c.3692C>A	c.(3691-3693)aCa>aAa	p.T1231K	ATP7A_ENST00000343533.5_Missense_Mutation_p.T1153K|ATP7A_ENST00000350425.4_Missense_Mutation_p.T234K	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1231					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ATTGCAGACACAGTGAAGCCT	0.388000													27	60					5.04308e-16	7.66274e-16	0.819951	1	0
PAPPA	5069	broad.mit.edu	37	9	119065222	119065222	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:119065222C>A	ENST00000328252.3	+	10	3509	c.3140C>A	c.(3139-3141)gCa>gAa	p.A1047E	PAPPA_ENST00000534838.1_Missense_Mutation_p.A85E|RP11-45A16.4_ENST00000451100.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1047					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CAGCCAGCAGCATCCCAGGTA	0.532000													41	26					1.86633e-21	2.99577e-21	0.870114	1	0
PLOD3	8985	broad.mit.edu	37	7	100855548	100855548	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:100855548G>A	ENST00000223127.3	-	10	1511	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	371					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCATGTCCCTGGCCTCGCCTG	0.667000													14	54					0	0	0.624587	0	0
HEPH	9843	broad.mit.edu	37	X	65393450	65393450	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:65393450C>T	ENST00000519389.1	+	4	773	c.594C>T	c.(592-594)ggC>ggT	p.G198G	HEPH_ENST00000441993.2_Silent_p.G147G|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000343002.2_Silent_p.G144G|HEPH_ENST00000374727.3_Silent_p.G147G|HEPH_ENST00000419594.1_Silent_p.G147G			Q9BQS7	HEPH_HUMAN	hephaestin	144	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ACCCAGATGGCTCCTCTGGGC	0.512000													4	17					0	0	0.150653	0	0
LOC285889	285889	broad.mit.edu	37	7	156231168	156231168	+	RNA	SNP	A	A	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:156231168A>C	ENST00000436670.1	-	0	2012					NR_038232.1																						AAGTATTCTGAAATTGAAAAT	0.328000													2	3					0	0	0.115264	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686201	125686201	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:125686201C>T	ENST00000371126.1	-	1	633	c.391G>A	c.(391-393)Gcg>Acg	p.A131T		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	131										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGAATGCGCGCGATGTGGCCT	0.612000													11	32					0	0	0.500413	0	0
ACVR1	90	broad.mit.edu	37	2	158617481	158617481	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:158617481T>A	ENST00000263640.3	-	9	1604	c.1175A>T	c.(1174-1176)cAg>cTg	p.Q392L	ACVR1_ENST00000409283.2_Missense_Mutation_p.Q392L|ACVR1_ENST00000434821.1_Missense_Mutation_p.Q392L|ACVR1_ENST00000410057.2_Missense_Mutation_p.Q392L	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	392	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	ACAATCCACCTGGATGGTTTC	0.502000													11	62					0	0	0.411799	0	0
FAM3D	131177	broad.mit.edu	37	3	58639444	58639444	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:58639444G>A	ENST00000358781.2	-	3	388	c.78C>T	c.(76-78)taC>taT	p.Y26Y		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	26					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		TGAAGCTCATGTAGCTTCGAA	0.587000													21	26					0	0	0.667858	0	0
CRP	1401	broad.mit.edu	37	1	159683915	159683915	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:159683915C>A	ENST00000255030.5	-	2	178	c.75G>T	c.(73-75)aaG>aaT	p.K25N	CRP_ENST00000437342.1_Intron|CRP_ENST00000343919.2_Missense_Mutation_p.K25N|CRP_ENST00000368111.1_Missense_Mutation_p.K25N|CRP_ENST00000368110.1_Missense_Mutation_p.K25N|CRP_ENST00000368112.1_Missense_Mutation_p.K25N	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	25	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	ACACAAAAGCCTTCCTCGACA	0.438000													27	96					7.07758e-08	9.01613e-08	0.681144	1	0
FAT3	120114	broad.mit.edu	37	11	92532335	92532335	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:92532335G>T	ENST00000298047.6	+	9	6173	c.6156G>T	c.(6154-6156)ctG>ctT	p.L2052L	FAT3_ENST00000525166.1_Silent_p.L1902L|FAT3_ENST00000409404.2_Silent_p.L2052L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2052	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATATGAGCTGGTGGTAGAAG	0.468000										TCGA Ovarian(4;0.039)			3	28					0.00909568	0.00952692	0.150653	1	0
NIPSNAP3B	55335	broad.mit.edu	37	9	107533128	107533128	+	Splice_Site	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:107533128A>T	ENST00000374762.3	+	4	501		c.e4-1		NIPSNAP3B_ENST00000461177.1_Splice_Site	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TCCCTATTCTAGGAGTCTATG	0.383000													30	11					0	0	0.740014	0	0
MCM6	4175	broad.mit.edu	37	2	136626298	136626298	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:136626298C>G	ENST00000264156.2	-	4	558	c.498G>C	c.(496-498)agG>agC	p.R166S		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	166					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GTTCTACATCCCTGATCACTG	0.483000													7	52					0	0	0.248553	0	0
CHM	1121	broad.mit.edu	37	X	85211370	85211370	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:85211370G>T	ENST00000357749.2	-	8	983	c.954C>A	c.(952-954)atC>atA	p.I318I	CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Silent_p.I170I	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	318					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				CATAAAATGTGATCTCTTCAT	0.333000													19	30					1.01871e-10	1.38383e-10	0.575678	1	0
OR4D9	390199	broad.mit.edu	37	11	59282863	59282863	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:59282863A>T	ENST00000329328.3	+	1	478	c.478A>T	c.(478-480)Att>Ttt	p.I160F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CATAGCGCAGATTTCTCTATT	0.547000													18	37					0	0	0.539581	0	0
KRT12	3859	broad.mit.edu	37	17	39022437	39022437	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:39022437G>T	ENST00000251643.4	-	2	643	c.620C>A	c.(619-621)gCg>gAg	p.A207E		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	207	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				AGCTAGTCTCGCATTGTCAAT	0.478000													9	51					1.58986e-06	1.92596e-06	0.361761	1	0
FAM120A	23196	broad.mit.edu	37	9	96323466	96323466	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:96323466G>T	ENST00000277165.6	+	16	3076	c.2882G>T	c.(2881-2883)aGg>aTg	p.R961M	FAM120A_ENST00000333936.5_Missense_Mutation_p.R989M|FAM120A_ENST00000340893.4_Missense_Mutation_p.R915M	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	961	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCTGGGAGCAGGCGGGGCCGT	0.532000													5	6					0.0215528	0.0223239	0.217242	1	0
ARFGAP1	55738	broad.mit.edu	37	20	61910280	61910280	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:61910280G>T	ENST00000370275.4	+	7	652	c.560G>T	c.(559-561)gGg>gTg	p.G187V	ARFGAP1_ENST00000370283.4_Missense_Mutation_p.G187V|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.G113V|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.G187V|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.G134V|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.G74V			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	187					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GTGGGGTTTGGGAACACGCCA	0.597000													3	6					0.115264	0.117575	0.115264	1	0
ABCE1	6059	broad.mit.edu	37	4	146042355	146042355	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:146042355C>T	ENST00000296577.4	+	12	1689	c.1174C>T	c.(1174-1176)Ctt>Ttt	p.L392F	ABCE1_ENST00000502803.1_3'UTR|OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	392	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TATCAGAATGCTTGCTGGAAG	0.358000													37	31					0	0	0.847076	0	0
GNG4	2786	broad.mit.edu	37	1	235747056	235747056	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:235747056C>A	ENST00000391854.2	-	3	536	c.83G>T	c.(82-84)tGt>tTt	p.C28F	GNG4_ENST00000366598.4_Missense_Mutation_p.C28F|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000450593.1_Missense_Mutation_p.C28F|GNG4_ENST00000366597.1_Missense_Mutation_p.C28F	NM_001098722.1|NM_004485.3	NP_001092192.1|NP_004476.1	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	28					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	p.C28F(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			CCTGTCCATACAGGCTTCCAT	0.522000													10	25					2.27111e-07	2.84567e-07	0.411799	1	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086600	46086600	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr21:46086600C>T	ENST00000360770.3	-	1	244	c.204G>A	c.(202-204)atG>atA	p.M68I	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	68	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						ACTTGAAGCTCATGGGCACAC	0.627000													53	15					0	0	0.870114	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858524	149858524	+	Splice_Site	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:149858524C>T	ENST00000331380.2	+	1	0		c.e1-1			NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac						nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGATTTCAGTCATGTCTGGTC	0.542000													11	118					0	0	0.435327	0	0
PDCD4	27250	broad.mit.edu	37	10	112655755	112655755	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:112655755C>T	ENST00000393104.2	+	12	1586	c.1226C>T	c.(1225-1227)cCa>cTa	p.P409L	PDCD4_ENST00000280154.7_Missense_Mutation_p.P420L	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	420	MI 2.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGGATGTCCCACATTCATAC	0.353000													6	20					0	0	0.217242	0	0
DEFB116	245930	broad.mit.edu	37	20	29891163	29891163	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:29891163T>C	ENST00000400549.1	-	2	160	c.161A>G	c.(160-162)tAt>tGt	p.Y54C		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	54					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTGGATTTCATATTCTCTGCA	0.448000													112	258					0	0	0.870114	0	0
GLIPR2	152007	broad.mit.edu	37	9	36147842	36147842	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:36147842G>C	ENST00000377960.4	+	2	107	c.73G>C	c.(73-75)Ggc>Cgc	p.G25R	GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.G25R|GLIPR2_ENST00000474050.1_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	25						extracellular region|Golgi membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						GCAGAAGCACGGCGTCCCCCC	0.532000													107	75					0	0	0.870114	0	0
MMP26	56547	broad.mit.edu	37	11	5010972	5010972	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:5010972G>A	ENST00000380390.1	+	3	410	c.194G>A	c.(193-195)gGg>gAg	p.G65E	MMP26_ENST00000300762.1_Missense_Mutation_p.G65E|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	65					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CATCGGAATGGGACAGACCTA	0.527000													7	19					0	0	0.278610	0	0
TREM2	54209	broad.mit.edu	37	6	41126388	41126388	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:41126388G>C	ENST00000338469.3	-	4	716	c.613C>G	c.(613-615)Ctg>Gtg	p.L205V	TREM2_ENST00000373122.4_3'UTR|TREM2_ENST00000373113.3_3'UTR	NM_001271821.1	NP_001258750.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	0					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTTCAGGCAGAGTAGTCTCT	0.547000													6	17					0	0	0.217242	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518146	113518146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:113518146C>A	ENST00000284601.3	-	4	3069	c.3001G>T	c.(3001-3003)Gag>Tag	p.E1001*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1001					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						ACACTATACTCTTCTGTTTGG	0.373000													6	126					0.00198382	0.00212561	0.248553	1	0
ROBO2	6092	broad.mit.edu	37	3	77542422	77542422	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:77542422T>G	ENST00000461745.1	+	5	1595	c.695T>G	c.(694-696)aTt>aGt	p.I232S	ROBO2_ENST00000487694.3_Missense_Mutation_p.I248S|ROBO2_ENST00000332191.8_Missense_Mutation_p.I232S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	232	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGGAGGCCAATTAACCAGGTG	0.378000													5	37					0	0	0.217242	0	0
KMT2D	8085	broad.mit.edu	37	12	49422638	49422638	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:49422638C>A	ENST00000301067.7	-	45	14354	c.14355G>T	c.(14353-14355)atG>atT	p.M4785I		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGACTGTGAGCATGACTGACA	0.557000													14	24					1.05317e-09	1.39564e-09	0.457914	1	0
OR10Q1	219960	broad.mit.edu	37	11	57995401	57995401	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:57995401G>T	ENST00000316770.2	-	1	989	c.947C>A	c.(946-948)tCt>tAt	p.S316Y		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GTTGGCGTCAGAGGCTGCTTT	0.488000													147	145					2.59874e-77	4.5881e-77	0.870114	1	0
KNTC1	9735	broad.mit.edu	37	12	123042196	123042196	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:123042196A>G	ENST00000333479.7	+	18	1625	c.1448A>G	c.(1447-1449)tAt>tGt	p.Y483C	KNTC1_ENST00000450485.2_Missense_Mutation_p.Y446C	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	483					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGGATAACCTATGAAACCACT	0.398000													20	23					0	0	0.639603	0	0
PRKCI	5584	broad.mit.edu	37	3	170002268	170002268	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:170002268A>T	ENST00000295797.4	+	12	1392	c.1087A>T	c.(1087-1089)Agt>Tgt	p.S363C		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	363	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGCAGAAATCAGTCTAGCATT	0.294000													45	17					0	0	0.870114	0	0
BEND2	139105	broad.mit.edu	37	X	18192296	18192296	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:18192296C>A	ENST00000380033.4	-	12	1967	c.1835G>T	c.(1834-1836)gGt>gTt	p.G612V	BEND2_ENST00000380030.3_Missense_Mutation_p.G521V	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	612										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCCTTCACCACCATCTCTGCC	0.418000													30	74					1.75199e-13	2.52064e-13	0.717897	1	0
CDK15	65061	broad.mit.edu	37	2	202671411	202671411	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:202671411G>T	ENST00000450471.2	+	1	110	c.24G>T	c.(22-24)aaG>aaT	p.K8N	CDK15_ENST00000260967.2_Intron|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000410091.3_Intron|CDK15_ENST00000434439.1_Missense_Mutation_p.K8N|CDK15_ENST00000374598.4_Missense_Mutation_p.K8N	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	8							ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TGTGTGCAAAGACTGTACAGC	0.542000													7	21					5.18039e-06	6.15126e-06	0.278610	1	0
BGN	633	broad.mit.edu	37	X	152770100	152770100	+	Translation_Start_Site	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:152770100T>A	ENST00000370204.1	+	0	145				BGN_ENST00000331595.4_Missense_Mutation_p.L4Q|BGN_ENST00000480756.1_3'UTR			P21810	PGS1_HUMAN	biglycan							proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGGCCCCTGTGGCGCCTC	0.637000													3	8					0	0	0.387290	0	0
DHX30	22907	broad.mit.edu	37	3	47882657	47882657	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:47882657C>T	ENST00000446256.2	+	8	1112	c.540C>T	c.(538-540)ctC>ctT	p.L180L	DHX30_ENST00000445061.1_Silent_p.L219L|DHX30_ENST00000457607.1_Silent_p.L247L|DHX30_ENST00000348968.4_Silent_p.L191L	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	219						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ACGCTCCACTCAGGGACTCAA	0.557000													4	11					0	0	0.150653	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976798	47976798	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:47976798G>T	ENST00000543600.1	-	2	467	c.428C>A	c.(427-429)cCa>cAa	p.P143Q	PTCHD4_ENST00000339488.4_Missense_Mutation_p.P160Q			Q6ZW05	CF138_HUMAN	patched domain containing 4	160						integral to membrane	hedgehog receptor activity										TTTGCTGTTTGGCACTTCCAC	0.488000													13	23					4.36969e-10	5.84133e-10	0.435327	1	0
GALC	2581	broad.mit.edu	37	14	88431914	88431914	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:88431914C>G	ENST00000261304.2	-	9	1074	c.968G>C	c.(967-969)gGg>gCg	p.G323A	GALC_ENST00000393568.4_Missense_Mutation_p.G300A|GALC_ENST00000544807.2_Missense_Mutation_p.G267A|GALC_ENST00000393569.2_Missense_Mutation_p.G297A	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	323			G -> R (in GLD).		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGTCATCAACCCGCATCTCCC	0.453000													15	25					0	0	0.479597	0	0
PPP4R2	151987	broad.mit.edu	37	3	73113183	73113183	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:73113183G>T	ENST00000356692.5	+	7	777	c.524G>T	c.(523-525)aGg>aTg	p.R175M	PPP4R2_ENST00000295862.9_Missense_Mutation_p.R119M|PPP4R2_ENST00000394284.3_Missense_Mutation_p.R118M			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	175					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GGGACACCCAGGCCACTTAAT	0.403000													11	13					7.03913e-09	9.14052e-09	0.411799	1	0
DNAH3	55567	broad.mit.edu	37	16	21133419	21133419	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:21133419G>T	ENST00000261383.3	-	10	1430	c.1431C>A	c.(1429-1431)taC>taA	p.Y477*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.Y477*|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	477	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATCTCTTGGTAGGGCTCCT	0.398000													13	41					1.5739e-10	2.13283e-10	0.500413	1	0
HEATR6	63897	broad.mit.edu	37	17	58133588	58133588	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:58133588A>G	ENST00000184956.6	-	13	2106	c.2090T>C	c.(2089-2091)cTt>cCt	p.L697P	HEATR6_ENST00000585976.1_Intron	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	697							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CCTTGCCAGAAGAGTCAATAC	0.443000													4	165					0	0	0.150653	0	0
USH2A	7399	broad.mit.edu	37	1	216390814	216390814	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:216390814T>A	ENST00000366943.2	-	15	3458	c.3072A>T	c.(3070-3072)aaA>aaT	p.K1024N	USH2A_ENST00000307340.3_Missense_Mutation_p.K1024N|USH2A_ENST00000366942.3_Missense_Mutation_p.K1024N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1024	Laminin EGF-like 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGACAAATTGTTTACAGAAAC	0.438000										HNSCC(13;0.011)			16	30					0	0	0.539581	0	0
FAM154A	158297	broad.mit.edu	37	9	18928115	18928115	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:18928115T>A	ENST00000380534.4	-	4	1639	c.1360A>T	c.(1360-1362)Agc>Tgc	p.S454C	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.S262C	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	454										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AGATGGCTGCTCTGCTGAGAG	0.448000													52	37					0	0	0.870114	0	0
SMARCC2	6601	broad.mit.edu	37	12	56579949	56579949	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:56579949C>T	ENST00000394023.3	-	3	412	c.307G>A	c.(307-309)Gac>Aac	p.D103N	SMARCC2_ENST00000347471.4_Missense_Mutation_p.D103N|SMARCC2_ENST00000267064.4_Missense_Mutation_p.D103N|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000550164.1_Missense_Mutation_p.D103N	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	103					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CATCCCTGGTCACTCTTGAAT	0.403000													17	78					0	0	0.575678	0	0
VPS52	6293	broad.mit.edu	37	6	33236340	33236340	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:33236340T>C	ENST00000445902.2	-	7	853	c.635A>G	c.(634-636)cAg>cGg	p.Q212R	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.Q87R|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	212					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TCTAGCTTCCTGCTCTCTGAC	0.607000													15	32					0	0	0.575678	0	0
SPEF2	79925	broad.mit.edu	37	5	35806854	35806854	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:35806854G>A	ENST00000440995.2	+	35	5041	c.5041G>A	c.(5041-5043)Gag>Aag	p.E1681K	SPEF2_ENST00000356031.3_Missense_Mutation_p.E1686K|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.E483K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1686					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTGAACCTGAGGAAAATGC	0.393000													29	40					0	0	0.760397	0	0
CACNG3	10368	broad.mit.edu	37	16	24373040	24373040	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:24373040C>A	ENST00000005284.3	+	4	2006	c.804C>A	c.(802-804)tcC>tcA	p.S268S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	268					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCACCCTCTCCCGGGACCCCT	0.562000													25	62					1.45844e-13	2.10733e-13	0.769981	1	0
PTGIS	5740	broad.mit.edu	37	20	48127626	48127626	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:48127626G>A	ENST00000244043.4	-	9	1326	c.1297C>T	c.(1297-1299)Ccc>Tcc	p.P433S	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	433					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GCCCCCCAGGGCATGTTGTAA	0.532000													6	9					0	0	0.278610	0	0
OR5A1	219982	broad.mit.edu	37	11	59210886	59210886	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:59210886C>A	ENST00000302030.2	+	1	270	c.245C>A	c.(244-246)cCc>cAc	p.P82H		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCTGTGGCTCCCAATATGCTC	0.458000													96	55					1.73998e-50	3.0495e-50	0.870114	1	0
COL4A5	1287	broad.mit.edu	37	X	107838784	107838784	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:107838784C>T	ENST00000328300.6	+	22	1713	c.1469C>T	c.(1468-1470)tCa>tTa	p.S490L	COL4A5_ENST00000361603.2_Missense_Mutation_p.S490L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	490	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACTGGTATTTCAGGGCCTCCA	0.413000									Alport syndrome with Diffuse Leiomyomatosis				16	44					0	0	0.557998	0	0
RBPJL	11317	broad.mit.edu	37	20	43942153	43942153	+	Missense_Mutation	SNP	G	G	T	rs146643791		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:43942153G>T	ENST00000343694.3	+	7	737	c.665G>T	c.(664-666)cGc>cTc	p.R222L	RBPJL_ENST00000372741.3_Missense_Mutation_p.R222L|RBPJL_ENST00000372743.1_Missense_Mutation_p.R222L	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	222					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AACCGCCTGCGCTCTCAGACG	0.607000													21	16					2.79863e-10	3.76213e-10	0.681144	1	0
SLC23A2	9962	broad.mit.edu	37	20	4843540	4843540	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:4843540C>A	ENST00000379333.1	-	14	1762	c.1370G>T	c.(1369-1371)cGc>cTc	p.R457L	SLC23A2_ENST00000424750.2_Missense_Mutation_p.R343L|SLC23A2_ENST00000338244.1_Missense_Mutation_p.R457L	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	457					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGTATCACGCGGCGGCTGCC	0.572000													5	20					3.59834e-05	4.14376e-05	0.217242	1	0
HEPH	9843	broad.mit.edu	37	X	65420572	65420572	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:65420572C>A	ENST00000519389.1	+	12	2396	c.2217C>A	c.(2215-2217)gcC>gcA	p.A739A	HEPH_ENST00000441993.2_Silent_p.A688A|HEPH_ENST00000336279.5_Silent_p.A418A|HEPH_ENST00000343002.2_Silent_p.A685A|HEPH_ENST00000374727.3_Silent_p.A688A|HEPH_ENST00000419594.1_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	685	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTGTCATGGCCATCATGCAGC	0.547000													3	26					0.115264	0.117575	0.115264	1	0
ITGA10	8515	broad.mit.edu	37	1	145534244	145534244	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:145534244G>T	ENST00000369304.3	+	14	1924	c.1749G>T	c.(1747-1749)ctG>ctT	p.L583L	ITGA10_ENST00000538811.1_Silent_p.L452L|ITGA10_ENST00000539363.1_Silent_p.L440L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	583					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CACTGTACCTGTACCATGGAA	0.572000													43	216					8.20599e-20	1.30102e-19	0.859065	1	0
PAK4	10298	broad.mit.edu	37	19	39665645	39665645	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:39665645C>G	ENST00000599386.1	+	5	895	c.714C>G	c.(712-714)ctC>ctG	p.L238L	PAK4_ENST00000321944.4_Silent_p.L301L|PAK4_ENST00000599470.1_Silent_p.L238L|PAK4_ENST00000593690.1_Silent_p.L391L|PAK4_ENST00000435673.2_Silent_p.L391L|PAK4_ENST00000360442.3_Silent_p.L391L|PAK4_ENST00000358301.3_Silent_p.L391L	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	391	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GGGACGAGCTCTGGGTGGTCA	0.597000													12	43					0	0	0.479597	0	0
FLAD1	80308	broad.mit.edu	37	1	154962044	154962044	+	Silent	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:154962044T>C	ENST00000368433.1	+	3	1469	c.1126T>C	c.(1126-1128)Ttg>Ctg	p.L376L	FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000292180.3_Silent_p.L376L|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000315144.10_Silent_p.L279L|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368432.1_Silent_p.L279L			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	376					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)			AGGGTCTTCTTTGGGGAAAAA	0.552000													12	55					0	0	0.557998	0	0
GRAP2	9402	broad.mit.edu	37	22	40364155	40364155	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:40364155C>G	ENST00000344138.4	+	6	832	c.569C>G	c.(568-570)cCc>cGc	p.P190R	GRAP2_ENST00000544756.1_Missense_Mutation_p.P118R|GRAP2_ENST00000543252.1_Missense_Mutation_p.P150R|GRAP2_ENST00000407075.3_Missense_Mutation_p.P190R|GRAP2_ENST00000540310.1_Missense_Mutation_p.P124R|GRAP2_ENST00000399090.2_Missense_Mutation_p.P77R	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	190					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TCGGATCACCCCCCGACCCTT	0.657000													3	1					0	0	0.184627	0	0
NLRP4	147945	broad.mit.edu	37	19	56390279	56390279	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:56390279T>C	ENST00000301295.6	+	9	3238	c.2816T>C	c.(2815-2817)gTt>gCt	p.V939A	NLRP4_ENST00000587891.1_Missense_Mutation_p.V864A|NLRP4_ENST00000346986.5_Missense_Mutation_p.V883A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	939							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACAGGGGTGGTTGTACTCTGT	0.587000													10	18					0	0	0.411799	0	0
COL25A1	84570	broad.mit.edu	37	4	109767294	109767294	+	Splice_Site	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:109767294C>A	ENST00000399132.1	-	28	2046		c.e28+1		COL25A1_ENST00000399126.1_Splice_Site|COL25A1_ENST00000399127.1_Splice_Site	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 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)		TATAAACATACCGGTAATCCA	0.343000													12	24					4.84862e-15	7.20427e-15	0.387290	1	0
PLBD2	196463	broad.mit.edu	37	12	113822707	113822707	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:113822707G>T	ENST00000280800.3	+	8	1201	c.1170G>T	c.(1168-1170)ggG>ggT	p.G390G	PLBD2_ENST00000545182.2_Intron	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	390					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCCCGGGTGGGCCCAGCCCCG	0.672000													12	7					2.31682e-05	2.692e-05	0.479597	1	0
NALCN	259232	broad.mit.edu	37	13	101757000	101757000	+	Splice_Site	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:101757000C>A	ENST00000251127.6	-	24	2719	c.2636_splice	c.e24-1	p.D880_splice		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	880						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCAGCAAATCACTGCCAAAG	0.438000													47	32					2.12129e-23	3.46463e-23	0.870114	1	0
CA10	56934	broad.mit.edu	37	17	50008362	50008362	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:50008362C>A	ENST00000451037.2	-	3	1207	c.267G>T	c.(265-267)acG>acT	p.T89T	CA10_ENST00000340813.6_Silent_p.T95T|CA10_ENST00000285273.4_Silent_p.T89T|CA10_ENST00000442502.2_Silent_p.T89T|CA10_ENST00000570565.1_Silent_p.T14T	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	89					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TCCTGCCCCCCGTGTTGATGC	0.498000													160	182					6.60601e-59	1.16385e-58	0.870114	1	0
MAGI2	9863	broad.mit.edu	37	7	77789355	77789355	+	Silent	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:77789355A>T	ENST00000354212.4	-	16	3085	c.2832T>A	c.(2830-2832)tcT>tcA	p.S944S	MAGI2_ENST00000522391.1_Silent_p.S944S|MAGI2_ENST00000419488.1_Silent_p.S930S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	944	PDZ 5.					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)				TAGTGGATCCAGACTCAGGCC	0.468000													16	19					0	0	0.539581	0	0
SYNE2	23224	broad.mit.edu	37	14	64428341	64428341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:64428341C>T	ENST00000358025.3	+	9	1116	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q296*|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q296*|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	296					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)		AGAGGAGGCTCAGGTATGTTT	0.368000													20	18					0	0	0.592651	0	0
ZNF695	57116	broad.mit.edu	37	1	247163267	247163267	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:247163267C>T	ENST00000339986.7	-	2	260	c.113G>A	c.(112-114)aGa>aAa	p.R38K	ZNF695_ENST00000487338.2_Missense_Mutation_p.R38K|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	38	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GATCAGGTTTCTGTAGTTCTC	0.438000													21	78					0	0	0.639603	0	0
FMN2	56776	broad.mit.edu	37	1	240493995	240493995	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:240493995G>T	ENST00000319653.9	+	11	4760	c.4530G>T	c.(4528-4530)caG>caT	p.Q1510H	FMN2_ENST00000545751.1_Missense_Mutation_p.Q106H	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1510	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCGAGGACAGGCAGATGGCT	0.423000													15	45					3.45872e-05	4.0022e-05	0.500413	1	0
TINF2	26277	broad.mit.edu	37	14	24710289	24710289	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:24710289C>T	ENST00000399423.4	-	5	871	c.541G>A	c.(541-543)Gtc>Atc	p.V181I	TINF2_ENST00000267415.7_Missense_Mutation_p.V181I|TINF2_ENST00000558566.1_Intron|TINF2_ENST00000540705.1_Missense_Mutation_p.V146I|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000538777.1_Intron	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	181					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GTGATAGAGACTCCAGGCTGC	0.522000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				65	307					0	0	0.870114	0	0
PRKD3	23683	broad.mit.edu	37	2	37496827	37496827	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:37496827T>C	ENST00000379066.1	-	13	2470	c.1708A>G	c.(1708-1710)Atc>Gtc	p.I570V	PRKD3_ENST00000234179.2_Missense_Mutation_p.I570V			O94806	KPCD3_HUMAN	protein kinase D3	570					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ACAGTACTGATATCCTGGTAG	0.358000													43	11					0	0	0.859065	0	0
DSG1	1828	broad.mit.edu	37	18	28919734	28919734	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:28919734C>A	ENST00000257192.4	+	11	1645	c.1433C>A	c.(1432-1434)aCa>aAa	p.T478K		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	478	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGCACTGGTACAATTAATATT	0.323000													15	20					2.32078e-09	3.05855e-09	0.479597	1	0
CCT6A	908	broad.mit.edu	37	7	56126352	56126352	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:56126352G>T	ENST00000275603.4	+	8	1144	c.925G>T	c.(925-927)Ggc>Tgc	p.G309C	CCT6A_ENST00000540286.1_Missense_Mutation_p.G278C|CCT6A_ENST00000335503.3_Missense_Mutation_p.G264C	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	309					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCAAAAGAAGGCATAGTTGC	0.333000													20	18					3.10358e-05	3.60367e-05	0.624587	1	0
ZNF236	7776	broad.mit.edu	37	18	74622668	74622668	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:74622668A>G	ENST00000253159.8	+	16	2898	c.2700A>G	c.(2698-2700)caA>caG	p.Q900Q	ZNF236_ENST00000320610.9_Silent_p.Q902Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	900					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CACCTGTCCAACAGCTACAGG	0.453000													13	27					0	0	0.520397	0	0
IL36B	27177	broad.mit.edu	37	2	113786647	113786647	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:113786647G>A	ENST00000259213.4	-	4	237	c.130C>T	c.(130-132)Cat>Tat	p.H44Y	IL36B_ENST00000327407.2_Missense_Mutation_p.H44Y	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	44					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						GCTATTAAATGAAGAGTGACT	0.438000													15	34					0	0	0.479597	0	0
ZNF43	7594	broad.mit.edu	37	19	22000712	22000712	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:22000712A>G	ENST00000594012.1	-	6	703	c.189T>C	c.(187-189)caT>caC	p.H63H	ZNF43_ENST00000598288.1_Silent_p.H63H|ZNF43_ENST00000354959.4_Silent_p.H69H|ZNF43_ENST00000598381.1_Silent_p.H63H|ZNF43_ENST00000595461.1_Silent_p.H63H	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTACCATTTCATGTCTCCTCA	0.428000													4	48					0	0	0.184627	0	0
AAK1	22848	broad.mit.edu	37	2	69771620	69771620	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:69771620G>C	ENST00000409085.4	-	4	715	c.339C>G	c.(337-339)aaC>aaG	p.N113K	AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000406297.3_Missense_Mutation_p.N113K|AAK1_ENST00000409068.1_Missense_Mutation_p.N113K	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	113	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CGCTACTCACGTTGTTGATAC	0.393000													59	19					0	0	0.870114	0	0
UPP2	151531	broad.mit.edu	37	2	158974392	158974392	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:158974392C>A	ENST00000605860.1	+	7	613	c.567C>A	c.(565-567)ctC>ctA	p.L189L	UPP2_ENST00000005756.4_Silent_p.L132L|UPP2_ENST00000409859.4_Silent_p.L189L|UPP2_ENST00000460456.1_Intron			O95045	UPP2_HUMAN	uridine phosphorylase 2	132					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						TCAAATTACTCCACCATGCAC	0.428000													29	78					8.88839e-20	1.40656e-19	0.750413	1	0
NLRP3	114548	broad.mit.edu	37	1	247587296	247587296	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:247587296A>G	ENST00000366497.2	+	4	1331	c.551A>G	c.(550-552)gAg>gGg	p.E184G	NLRP3_ENST00000391827.2_Missense_Mutation_p.E184G|NLRP3_ENST00000348069.2_Missense_Mutation_p.E184G|NLRP3_ENST00000391828.3_Missense_Mutation_p.E184G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.E184G|NLRP3_ENST00000366496.2_Missense_Mutation_p.E184G	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	184					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)			CAGGAGAGGGAGCAGGAGCTT	0.557000													4	18					0	0	0.217242	0	0
STOML3	161003	broad.mit.edu	37	13	39541096	39541096	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:39541096G>A	ENST00000379631.4	-	7	1086	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	STOML3_ENST00000423210.1_Missense_Mutation_p.R239C	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	248						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TGCAGGTAGCGCAGCTGGAGA	0.517000													16	12					0	0	0.520397	0	0
OR52J3	119679	broad.mit.edu	37	11	5068179	5068179	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:5068179G>T	ENST00000380370.1	+	1	424	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACATCCCAAGTGTTGGTGGG	0.483000													19	42					1.01871e-10	1.38383e-10	0.575678	1	0
GIMAP4	55303	broad.mit.edu	37	7	150269516	150269516	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:150269516G>T	ENST00000255945.2	+	3	533	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.V134L	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	120							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTGCTTCTGGTGGTTCCACT	0.493000													54	69					3.07002e-29	5.15972e-29	0.870114	1	0
HOOK1	51361	broad.mit.edu	37	1	60328496	60328496	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:60328496G>C	ENST00000371208.3	+	16	1830	c.1573G>C	c.(1573-1575)Gag>Cag	p.E525Q	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.E483Q	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	525	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GCAGCAGATTGAGGACCTCCA	0.378000													25	68					0	0	0.706142	0	0
ENAM	10117	broad.mit.edu	37	4	71509884	71509884	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:71509884G>A	ENST00000396073.3	+	9	3022	c.2741G>A	c.(2740-2742)aGt>aAt	p.S914N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	914					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACAGACGGTAGTCATACCAAG	0.488000													19	73					0	0	0.667858	0	0
TP53I11	9537	broad.mit.edu	37	11	44958879	44958879	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:44958879C>A	ENST00000533940.1	-	7	817	c.213G>T	c.(211-213)gtG>gtT	p.V71V	TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000395648.3_Silent_p.V71V|TP53I11_ENST00000308212.5_Silent_p.V71V|TP53I11_ENST00000531928.2_Silent_p.V71V|TP53I11_ENST00000525680.1_Silent_p.V71V	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	71					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						CGGAGAAGAGCACAGCAGAGA	0.657000											OREG0020923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	4					3.59834e-05	4.14376e-05	0.217242	1	0
ISX	91464	broad.mit.edu	37	22	35463223	35463223	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:35463223G>T	ENST00000308700.6	+	1	1095	c.143G>T	c.(142-144)aGa>aTa	p.R48I	ISX_ENST00000404699.2_Missense_Mutation_p.R48I|RP1-272J12.1_ENST00000448318.4_RNA	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	48						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GATATGGACAGACCAGAAGGG	0.587000													3	5					0.115264	0.117575	0.115264	1	0
QRICH1	54870	broad.mit.edu	37	3	49095211	49095211	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:49095211C>T	ENST00000395443.2	-	3	894	c.422G>A	c.(421-423)gGc>gAc	p.G141D	QRICH1_ENST00000357496.2_Missense_Mutation_p.G141D|QRICH1_ENST00000424300.1_Missense_Mutation_p.G141D|QRICH1_ENST00000479449.1_Intron	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	141	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGGTGCCTGGCCTTGGATCTG	0.617000													11	16					0	0	0.479597	0	0
IST1	9798	broad.mit.edu	37	16	71950431	71950431	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:71950431C>G	ENST00000378799.6	+	3	511	c.155C>G	c.(154-156)gCt>gGt	p.A52G	IST1_ENST00000606369.1_Intron|IST1_ENST00000544564.1_Missense_Mutation_p.A52G|IST1_ENST00000378798.5_Missense_Mutation_p.A52G|IST1_ENST00000538850.1_Intron|RP11-498D10.4_ENST00000568581.1_Missense_Mutation_p.A52G|IST1_ENST00000535424.1_Missense_Mutation_p.A65G|IST1_ENST00000329908.8_Missense_Mutation_p.A52G|IST1_ENST00000538565.1_Intron|IST1_ENST00000541571.2_Missense_Mutation_p.A52G	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	52	Interaction with CHMP1A and CHMP1B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding										GATGAACGAGCTCGGATCCGT	0.552000													4	15					0	0	0.278610	0	0
ITGAD	3681	broad.mit.edu	37	16	31419751	31419751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:31419751C>T	ENST00000389202.2	+	10	1064	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	339					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CACAGGAACCCAGTCCAGGGC	0.552000													10	21					0	0	0.361761	0	0
TIFAB	497189	broad.mit.edu	37	5	134785501	134785501	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:134785501G>T	ENST00000537858.1	-	2	329	c.129C>A	c.(127-129)gaC>gaA	p.D43E		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	43	FHA.							p.D43E(2)		breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGGTGGGCGTCCTGCCCCC	0.657000													6	16					7.48243e-07	9.17677e-07	0.335167	1	0
ACTC1	70	broad.mit.edu	37	15	35085457	35085457	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:35085457C>A	ENST00000290378.4	-	3	1098	c.443G>T	c.(442-444)gGc>gTc	p.G148V	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	148					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGTGGTACGGCCAGAAGCATA	0.522000													16	26					4.75885e-15	7.07715e-15	0.520397	1	0
SI	6476	broad.mit.edu	37	3	164712060	164712060	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:164712060C>A	ENST00000264382.3	-	41	4888	c.4826G>T	c.(4825-4827)cGa>cTa	p.R1609L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1609	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAAAAGGGGTCGGATAACAGT	0.328000										HNSCC(35;0.089)			62	25					9.39563e-20	1.48403e-19	0.870114	1	0
XPO6	23214	broad.mit.edu	37	16	28133055	28133055	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:28133055G>A	ENST00000304658.5	-	14	2295	c.1795C>T	c.(1795-1797)Cag>Tag	p.Q599*	XPO6_ENST00000565698.1_Nonsense_Mutation_p.Q585*	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	599					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AATTTTATCTGAGATCCGTAC	0.398000													27	30					0	0	0.740014	0	0
PRRX2	51450	broad.mit.edu	37	9	132484547	132484547	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:132484547C>T	ENST00000372469.4	+	4	905	c.678C>T	c.(676-678)gtC>gtT	p.V226V		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	226						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				CCCCAGGGGTCAACATGGCCA	0.637000													3	8					0	0	0.115264	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36431270	36431270	+	Splice_Site	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:36431270G>C	ENST00000405275.2	+	12	1195	c.950_splice	c.e12-1	p.E318_splice	CTNNBL1_ENST00000373473.1_Splice_Site_p.E158_splice|CTNNBL1_ENST00000361383.6_Splice_Site_p.E345_splice|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Splice_Site_p.E93_splice			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	345					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TGTTCACAGGGAAAAGAAGAT	0.423000													14	41					0	0	0.557998	0	0
FAT3	120114	broad.mit.edu	37	11	92088448	92088448	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:92088448G>T	ENST00000298047.6	+	1	3187	c.3170G>T	c.(3169-3171)cGc>cTc	p.R1057L	FAT3_ENST00000541502.1_Missense_Mutation_p.R1057L|FAT3_ENST00000525166.1_Missense_Mutation_p.R907L|FAT3_ENST00000409404.2_Missense_Mutation_p.R1057L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1057	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R1057L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAAACTCACGCATTGGAACA	0.498000										TCGA Ovarian(4;0.039)			21	64					1.55795e-14	2.27658e-14	0.608945	1	0
TOM1L1	10040	broad.mit.edu	37	17	53027483	53027483	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:53027483A>G	ENST00000575882.1	+	14	1719	c.1366A>G	c.(1366-1368)Aca>Gca	p.T456A	TOM1L1_ENST00000536554.1_Missense_Mutation_p.T379A|TOM1L1_ENST00000540336.1_Missense_Mutation_p.T344A|TOM1L1_ENST00000348161.4_Missense_Mutation_p.T379A|TOM1L1_ENST00000445275.2_Missense_Mutation_p.T445A|TOM1L1_ENST00000572158.1_Missense_Mutation_p.T449A	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	456					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TGCTGTCACTACAGAGTAAGT	0.383000													5	20					0	0	0.184627	0	0
ACACB	32	broad.mit.edu	37	12	109637270	109637270	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:109637270G>A	ENST00000338432.7	+	18	2810	c.2691G>A	c.(2689-2691)ctG>ctA	p.L897L	ACACB_ENST00000377848.3_Silent_p.L897L|ACACB_ENST00000377854.5_Silent_p.L897L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	897	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.L897L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CTACAGTCCTGAGATCCCCCT	0.562000													60	35					0	0	0.870114	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													3	59					0	0	0.115264	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945221	16945221	+	RNA	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:16945221C>T	ENST00000412962.1	-	0	2298																											TTATGGCATTCTTACAGGCAT	0.368000													3	6					0	0	0.150653	0	0
HECTD4	283450	broad.mit.edu	37	12	112641564	112641564	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:112641564A>T	ENST00000550722.1	-	54	8239	c.7844T>A	c.(7843-7845)gTa>gAa	p.V2615E	HECTD4_ENST00000430131.2_Missense_Mutation_p.V2339E|HECTD4_ENST00000377560.5_Missense_Mutation_p.V2589E	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGAGCGGGTTACTACTGTGAG	0.458000													15	8					0	0	0.520397	0	0
ABCA4	24	broad.mit.edu	37	1	94574175	94574175	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:94574175G>C	ENST00000370225.3	-	4	486	c.400C>G	c.(400-402)Caa>Gaa	p.Q134E	ABCA4_ENST00000535735.1_Missense_Mutation_p.Q134E	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	134					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q134K(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCATGAATTGGGACAAGATG	0.502000													10	39					0	0	0.435327	0	0
SPEF2	79925	broad.mit.edu	37	5	35759755	35759755	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:35759755A>G	ENST00000440995.2	+	25	3539	c.3539A>G	c.(3538-3540)aAc>aGc	p.N1180S	SPEF2_ENST00000356031.3_Missense_Mutation_p.N1185S|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1185					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTAGAGGACAACAAGAGATTT	0.393000													149	58					0	0	0.870114	0	0
DPH6	89978	broad.mit.edu	37	15	35742976	35742976	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:35742976C>A	ENST00000256538.4	-	5	441	c.415G>T	c.(415-417)Gct>Tct	p.A139S		NM_080650.3	NP_542381.1			diphthamine biosynthesis 6																		CAAAGATAAGCTAAAGGCTGG	0.368000													34	17					9.17885e-22	1.47901e-21	0.779181	1	0
AWAT1	158833	broad.mit.edu	37	X	69460072	69460072	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:69460072C>A	ENST00000374521.3	+	7	960	c.919C>A	c.(919-921)Cac>Aac	p.H307N		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	307					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GGATGCTCTGCACAAACTGTT	0.502000													61	81					3.00167e-28	5.00477e-28	0.870114	1	0
OR2H2	7932	broad.mit.edu	37	6	29555742	29555742	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:29555742A>G	ENST00000383640.2	+	1	60	c.21A>G	c.(19-21)acA>acG	p.T7T	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	7					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AAAGCTCCACACCGGGCTTCC	0.527000													140	133					0	0	0.870114	0	0
RYR2	6262	broad.mit.edu	37	1	237670075	237670075	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:237670075G>T	ENST00000366574.2	+	23	2996	c.2679G>T	c.(2677-2679)tgG>tgT	p.W893C	RYR2_ENST00000360064.6_Missense_Mutation_p.W891C|RYR2_ENST00000542537.1_Missense_Mutation_p.W877C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	893	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGAACTCTGGGTTATGAATA	0.328000													40	33					3.38236e-24	5.55673e-24	0.827153	1	0
ERBB4	2066	broad.mit.edu	37	2	212537931	212537931	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:212537931C>A	ENST00000342788.4	-	14	1984	c.1674G>T	c.(1672-1674)caG>caT	p.Q558H	ERBB4_ENST00000436443.1_Missense_Mutation_p.Q558H|ERBB4_ENST00000402597.1_Missense_Mutation_p.Q558H	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	558	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCTTCTCACACTGGGGGTCAC	0.473000										TSP Lung(8;0.080)			18	24					6.21321e-17	9.57063e-17	0.639603	1	0
NARFL	64428	broad.mit.edu	37	16	780984	780984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:780984C>A	ENST00000540986.1	-	9	2180	c.745G>T	c.(745-747)Gag>Tag	p.E249*	NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000301694.5_3'UTR|NARFL_ENST00000568545.1_Nonsense_Mutation_p.E249*|NARFL_ENST00000251588.2_Nonsense_Mutation_p.E351*			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	351					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				AGTGTCACCTCCTGGAAGTCT	0.627000													2	1					0.004672	0.00495846	0.115264	1	0
PYHIN1	149628	broad.mit.edu	37	1	158906733	158906733	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:158906733G>T	ENST00000368140.1	+	2	278	c.33G>T	c.(31-33)ctG>ctT	p.L11L	PYHIN1_ENST00000368135.4_Silent_p.L11L|PYHIN1_ENST00000392254.2_Silent_p.L11L|PYHIN1_ENST00000368138.3_Silent_p.L11L|PYHIN1_ENST00000392252.3_Silent_p.L11L	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	11	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TTGTTCTACTGAAAGGATTAG	0.299000													10	55					0.000673444	0.000735184	0.361761	1	0
ARPP21	10777	broad.mit.edu	37	3	35750563	35750563	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:35750563G>T	ENST00000187397.4	+	11	1353		c.e11+1		ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000417925.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa							cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGCACACGATGTGAGTAGTTG	0.438000													3	13					0.115264	0.117575	0.115264	1	0
COL4A6	1288	broad.mit.edu	37	X	107422067	107422067	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:107422067C>G	ENST00000394872.2	-	27	2596	c.2365G>C	c.(2365-2367)Ggg>Cgg	p.G789R	COL4A6_ENST00000545689.1_Missense_Mutation_p.G788R|COL4A6_ENST00000372216.4_Missense_Mutation_p.G789R|COL4A6_ENST00000538570.1_Missense_Mutation_p.G788R|COL4A6_ENST00000334504.7_Missense_Mutation_p.G788R			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	789	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G788R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAGGCTTCCCGTGCACACCT	0.572000									Alport syndrome with Diffuse Leiomyomatosis				26	38					0	0	0.740014	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525679	176525679	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:176525679G>A	ENST00000367662.3	+	2	1385	c.221G>A	c.(220-222)aGg>aAg	p.R74K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R74K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	74					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TACCCCAGCAGGGCTGGGAAC	0.547000													58	262					0	0	0.870114	0	0
CDH9	1007	broad.mit.edu	37	5	26903796	26903796	+	Missense_Mutation	SNP	C	C	G	rs141440884		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:26903796C>G	ENST00000231021.4	-	6	1121	c.949G>C	c.(949-951)Gat>Cat	p.D317H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	317	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTGATGACATCGAACATGTCT	0.408000													88	80					0	0	0.870114	0	0
OLFML1	283298	broad.mit.edu	37	11	7507195	7507195	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:7507195C>A	ENST00000329293.3	+	1	483	c.89C>A	c.(88-90)gCc>gAc	p.A30D	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Missense_Mutation_p.A30D|OLFML1_ENST00000528758.1_Missense_Mutation_p.A30D	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	30						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CAGGACCCAGCCATGGTGCAT	0.517000													17	39					3.08376e-08	3.95844e-08	0.654019	1	0
IGFBP2	3485	broad.mit.edu	37	2	217526667	217526667	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:217526667C>A	ENST00000233809.4	+	3	888	c.759C>A	c.(757-759)ctC>ctA	p.L253L	IGFBP2_ENST00000456764.1_Silent_p.L109L	NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	253	Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		TGGAGCACCTCTACTCCCTGC	0.622000													10	27					6.40141e-05	7.28676e-05	0.387290	1	0
SCN1A	6323	broad.mit.edu	37	2	166850735	166850735	+	Silent	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:166850735T>C	ENST00000423058.2	-	25	4790	c.4773A>G	c.(4771-4773)aaA>aaG	p.K1591K	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.K1563K|SCN1A_ENST00000375405.3_Silent_p.K1580K|SCN1A_ENST00000303395.4_Silent_p.K1591K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1591						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GAGAGATGAGTTTCAGTACAC	0.358000													6	42					0	0	0.248553	0	0
IRS4	8471	broad.mit.edu	37	X	107976646	107976646	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:107976646C>A	ENST00000372129.2	-	1	3005	c.2929G>T	c.(2929-2931)Gat>Tat	p.D977Y		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	977						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.D977H(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTTAAAAGATCTGAGAGGTCG	0.478000													7	92					0.000157383	0.000176164	0.278610	1	0
OR6V1	346517	broad.mit.edu	37	7	142750145	142750145	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:142750145C>T	ENST00000418316.1	+	1	729	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					AGAAGGCTTTCTCCACTTGCG	0.547000													37	81					0	0	0.870114	0	0
PDILT	204474	broad.mit.edu	37	16	20384206	20384206	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:20384206A>G	ENST00000302451.4	-	7	1084	c.836T>C	c.(835-837)cTg>cCg	p.L279P		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	279					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GACAAACAGCAGCATGTGACT	0.438000													34	36					0	0	0.760397	0	0
ATP5F1	515	broad.mit.edu	37	1	111992462	111992462	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:111992462C>T	ENST00000369722.3	+	2	650	c.44C>T	c.(43-45)cCc>cTc	p.P15L	ATP5F1_ENST00000483994.1_Intron|ATP5F1_ENST00000369721.4_3'UTR	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	15					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCTGCAGCCCCCTCTCTGAAG	0.498000													44	53					0	0	0.870114	0	0
RARB	5915	broad.mit.edu	37	3	25637962	25637962	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:25637962C>A	ENST00000330688.4	+	8	1623	c.1202C>A	c.(1201-1203)cCt>cAt	p.P401H	RARB_ENST00000404969.1_Missense_Mutation_p.P408H|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Missense_Mutation_p.P289H|RARB_ENST00000458646.1_Missense_Mutation_p.P289H	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	408	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TCAATGCCACCTCTCATTCAA	0.428000													8	57					3.09899e-07	3.85708e-07	0.307466	1	0
SLC6A4	6532	broad.mit.edu	37	17	28537564	28537564	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:28537564C>A	ENST00000401766.2	-	10	1930	c.1418G>T	c.(1417-1419)tGc>tTc	p.C473F	SLC6A4_ENST00000261707.3_Missense_Mutation_p.C473F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	473					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TCCAAAGAAGCAGGTGATGAC	0.592000													47	30					8.99859e-20	1.42266e-19	0.870114	1	0
GATA2	2624	broad.mit.edu	37	3	128200720	128200720	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:128200720C>T	ENST00000341105.2	-	5	1416	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	GATA2_ENST00000430265.2_Missense_Mutation_p.R348Q|GATA2_ENST00000487848.1_Missense_Mutation_p.R362Q|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	362					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.R362Q(7)|p.R362P(1)|p.R362fs*25(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GTTGGCGTTTCGGCGCCATAA	0.657000			Mis		AML(CML blast transformation)								12	8					0	0	0.539581	0	0
MTOR	2475	broad.mit.edu	37	1	11313974	11313974	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:11313974G>T	ENST00000361445.4	-	6	838	c.762C>A	c.(760-762)ggC>ggA	p.G254G		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	254					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCCGATTCATGCCCTTCTCTT	0.507000													26	23					1.17739e-12	1.67246e-12	0.693898	1	0
KCNA5	3741	broad.mit.edu	37	12	5154729	5154729	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:5154729G>T	ENST00000252321.3	+	1	1645	c.1416G>T	c.(1414-1416)tgG>tgT	p.W472C		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	472						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						ACGCCTTCTGGTGGGCAGTGG	0.602000													9	32					0.000673444	0.000735184	0.361761	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26423501	26423501	+	RNA	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:26423501G>T	ENST00000466808.2	+	0	420																											ACCTTGTGGTGGCAGGTGCGT	0.493000													37	38					9.8876e-21	1.57957e-20	0.804634	1	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709463	31709463	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr21:31709463G>T	ENST00000382835.2	-	1	549	c.524C>A	c.(523-525)cCt>cAt	p.P175H		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	175						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						ATTGACCAGAGGTCTACAGGA	0.463000													61	28					4.45325e-31	7.56783e-31	0.870114	1	0
RCHY1	25898	broad.mit.edu	37	4	76415855	76415855	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:76415855C>A	ENST00000324439.5	-	8	991	c.593G>T	c.(592-594)aGa>aTa	p.R198I	RCHY1_ENST00000451788.1_Missense_Mutation_p.E197D|RCHY1_ENST00000512706.1_Missense_Mutation_p.R176I|RCHY1_ENST00000513257.1_Missense_Mutation_p.R189I|RCHY1_ENST00000380840.2_Missense_Mutation_p.R158I	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	198					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATCCAGCTGTCTCCAATACCT	0.373000													7	30					1.61879e-10	2.18837e-10	0.411799	1	0
QPRT	23475	broad.mit.edu	37	16	29706293	29706293	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:29706293C>A	ENST00000395384.4	+	2	483	c.322C>A	c.(322-324)Ctg>Atg	p.L108M	QPRT_ENST00000562473.1_Intron|QPRT_ENST00000219771.7_Intron|AC009133.19_ENST00000449759.1_Missense_Mutation_p.146_146insR	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	108					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	CCTCAACACGCTGGCCCGCTG	0.731000													6	8					5.18039e-06	6.15126e-06	0.278610	1	0
TNXB	7148	broad.mit.edu	37	6	32023848	32023848	+	Silent	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:32023848A>T	ENST00000375244.3	-	24	8448	c.8247T>A	c.(8245-8247)ccT>ccA	p.P2749P	TNXB_ENST00000375247.2_Silent_p.P2749P			P22105	TENX_HUMAN	tenascin XB	2807	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCAGCGAGTCAGGGGAGGATC	0.667000													15	7					0	0	0.639603	0	0
COL25A1	84570	broad.mit.edu	37	4	109745272	109745272	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:109745272G>C	ENST00000399126.1	-	35	2433	c.1903C>G	c.(1903-1905)Ctg>Gtg	p.L635V	COL25A1_ENST00000399132.1_Intron|COL25A1_ENST00000399127.1_Missense_Mutation_p.L638V	NM_032518.2	NP_115907.2	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	0						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)		AAGCTGAACAGCAAAGCAGAC	0.458000													15	52					0	0	0.479597	0	0
ZNF880	400713	broad.mit.edu	37	19	52887268	52887268	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:52887268A>G	ENST00000422689.2	+	4	450	c.435A>G	c.(433-435)ccA>ccG	p.P145P		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	145					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TAGTTTCACCACTTCAAAAAA	0.318000													5	0					0	0	0.184627	0	0
LAMA4	3910	broad.mit.edu	37	6	112463444	112463444	+	Silent	SNP	C	C	A	rs111587919		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:112463444C>A	ENST00000230538.7	-	20	2941	c.2544G>T	c.(2542-2544)tcG>tcT	p.S848S	LAMA4_ENST00000389463.4_Silent_p.S841S|LAMA4_ENST00000424408.2_Silent_p.S841S|LAMA4_ENST00000522006.1_Silent_p.S841S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	848	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TACTGGTTCTCGAGTGCACTT	0.493000													17	13					3.41278e-10	4.57673e-10	0.520397	1	0
HGF	3082	broad.mit.edu	37	7	81346623	81346623	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:81346623C>A	ENST00000222390.5	-	11	1556	c.1330G>T	c.(1330-1332)Gat>Tat	p.D444Y	HGF_ENST00000457544.2_Missense_Mutation_p.D439Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	444	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCATCATCATCTGGATTTCGG	0.453000													32	52					0.000409698	0.00045196	0.760397	1	0
ZFP64	55734	broad.mit.edu	37	20	50701509	50701509	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:50701509C>A	ENST00000361387.2	-	9	1585	c.1525G>T	c.(1525-1527)Gcc>Tcc	p.A509S	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.A290S	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						ACGCGCAGGGCGGCCGCGCTG	0.672000													14	18					0.000219431	0.000244964	0.457914	1	0
FMN2	56776	broad.mit.edu	37	1	240635700	240635700	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:240635700C>A	ENST00000319653.9	+	17	5319	c.5089C>A	c.(5089-5091)Cag>Aag	p.Q1697K	FMN2_ENST00000545751.1_Missense_Mutation_p.Q293K|AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000543681.1_Missense_Mutation_p.Q17K|FMN2_ENST00000496950.1_3'UTR	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1697	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGTGTGTAGACAGAAGAAAGG	0.318000													12	48					0.000151284	0.000170246	0.435327	1	0
DLX5	1749	broad.mit.edu	37	7	96650308	96650308	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:96650308C>T	ENST00000222598.4	-	3	1083	c.610G>A	c.(610-612)Gag>Aag	p.E204K	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	204					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	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)					GGACTGTGCTCCGGGGGCATC	0.582000													12	43					0	0	0.500413	0	0
MYCBP2	23077	broad.mit.edu	37	13	77755891	77755891	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:77755891G>A	ENST00000407578.2	-	33	5152	c.4886C>T	c.(4885-4887)tCa>tTa	p.S1629L	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S1591L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1591L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACTAGTGTTGAGTCGTTCTC	0.408000													18	144					0	0	0.539581	0	0
SPG7	6687	broad.mit.edu	37	16	89611126	89611126	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:89611126G>A	ENST00000268704.2	+	10	1410	c.1395G>A	c.(1393-1395)ctG>ctA	p.L465L		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	465					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		ACGGTGCTCTGATGAGGCCAG	0.622000													8	13					0	0	0.361761	0	0
C22orf43	51233	broad.mit.edu	37	22	23968190	23968190	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:23968190T>C	ENST00000317749.5	-	2	551	c.254A>G	c.(253-255)gAg>gGg	p.E85G		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	85										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						ATTGTCTTCCTCACTTGATGG	0.468000													10	39					0	0	0.361761	0	0
CWH43	80157	broad.mit.edu	37	4	48996711	48996711	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:48996711T>A	ENST00000226432.4	+	5	770	c.587T>A	c.(586-588)cTg>cAg	p.L196Q	CWH43_ENST00000513409.1_Missense_Mutation_p.L169Q	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	196					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CCCAACTGGCTGCTGGCAGGG	0.493000													27	50					0	0	0.870114	0	0
MTMR1	8776	broad.mit.edu	37	X	149899011	149899011	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:149899011C>G	ENST00000445323.2	+	8	793	c.672C>G	c.(670-672)ttC>ttG	p.F224L	MTMR1_ENST00000542156.1_Missense_Mutation_p.F216L|MTMR1_ENST00000451863.2_Missense_Mutation_p.F216L|MTMR1_ENST00000541925.1_Missense_Mutation_p.F122L|MTMR1_ENST00000538506.1_Missense_Mutation_p.F103L|MTMR1_ENST00000370390.3_Missense_Mutation_p.F216L|MTMR1_ENST00000544228.1_Missense_Mutation_p.F216L			Q13613	MTMR1_HUMAN	myotubularin related protein 1	216						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TATTTGCATTCAGCTATAAAG	0.284000													13	57					0	0	0.479597	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99226890	99226890	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:99226890G>A	ENST00000394152.2	+	8	1209	c.882G>A	c.(880-882)gaG>gaA	p.E294E	ZSCAN25_ENST00000334715.3_Silent_p.E294E|ZSCAN25_ENST00000262941.6_Silent_p.E222E|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		TGACATCAGAGAGGTTTGGGG	0.627000													33	90					0	0	0.788014	0	0
MCTP2	55784	broad.mit.edu	37	15	94927252	94927252	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:94927252G>T	ENST00000357742.4	+	12	1584	c.1582_splice	c.e12-1	p.G528_splice	MCTP2_ENST00000557742.1_Splice_Site_p.G116_splice|MCTP2_ENST00000331706.4_Splice_Site_p.G116_splice|MCTP2_ENST00000451018.3_Splice_Site_p.G528_splice	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	528	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTTTCCAGGGAAGAGTGACC	0.423000													15	20					0.00316338	0.00337655	0.479597	1	0
AMMECR1L	83607	broad.mit.edu	37	2	128631784	128631784	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:128631784G>A	ENST00000272647.5	-	3	285	c.25C>T	c.(25-27)Cca>Tca	p.P9S	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.P9S	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	9										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GGCTCGAGTGGAGGAACACAA	0.488000													5	29					0	0	0.217242	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	3					5.16669e-11	7.08152e-11	0.387290	1	0
DST	667	broad.mit.edu	37	6	56347577	56347577	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:56347577C>G	ENST00000370754.5	-	89	21212	c.21213G>C	c.(21211-21213)tgG>tgC	p.W7071C	DST_ENST00000370788.2_Missense_Mutation_p.W4696C|DST_ENST00000361203.3_Missense_Mutation_p.W6782C|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.W6567C|DST_ENST00000244364.6_Missense_Mutation_p.W4479C|DST_ENST00000370769.4_Missense_Mutation_p.W6893C|DST_ENST00000421834.2_Missense_Mutation_p.W4805C			Q03001	DYST_HUMAN	dystonin	6891					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGACCTTGACCCAGGAGGAGT	0.542000													15	29					0	0	0.479597	0	0
PLSCR4	57088	broad.mit.edu	37	3	145918866	145918866	+	Splice_Site	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:145918866T>A	ENST00000354952.2	-	5	595		c.e5-2		PLSCR4_ENST00000493382.1_Splice_Site|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000446574.2_Splice_Site	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4						blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GTTGTCCAACTGTTGGGATAA	0.303000													9	64					0	0	0.335167	0	0
CD40LG	959	broad.mit.edu	37	X	135730550	135730550	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:135730550G>A	ENST00000370629.2	+	1	199	c.143G>A	c.(142-144)aGa>aAa	p.R48K	CD40LG_ENST00000370628.2_Missense_Mutation_p.R48K	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	48					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TATCTTCATAGAAGGTTGGAC	0.373000									Immune Deficiency with Hyper-IgM				48	104					0	0	0.870114	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189944	58189944	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:58189944T>A	ENST00000318203.5	+	5	1670	c.973T>A	c.(973-975)Tgt>Agt	p.C325S		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	325					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAGTATCTCTGTCACTTATT	0.438000													25	22					0	0	0.667858	0	0
TTN	7273	broad.mit.edu	37	2	179457205	179457205	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:179457205C>T	ENST00000589042.1	-	301	59751	c.59527G>A	c.(59527-59529)Gaa>Aaa	p.E19843K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10903K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18202K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17275K|TTN_ENST00000342175.6_Missense_Mutation_p.E10970K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10778K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18202	Ig-like 110.						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)			TTACGAATTTCAAGCTTGCTA	0.393000													19	78					0	0	0.624587	0	0
OSBPL10	114884	broad.mit.edu	37	3	31743990	31743990	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:31743990C>A	ENST00000396556.2	-	7	1228	c.1106G>T	c.(1105-1107)gGc>gTc	p.G369V	OSBPL10_ENST00000438237.2_Missense_Mutation_p.G305V	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	369					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CAATTCAGAGCCTGAGTTTGG	0.363000													7	17					0.00307968	0.0032893	0.278610	1	0
PADI3	51702	broad.mit.edu	37	1	17588668	17588668	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:17588668T>A	ENST00000375460.3	+	3	354	c.314T>A	c.(313-315)cTg>cAg	p.L105Q		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	105					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCTCTGCCCCTGGCCTATGCG	0.532000													9	9					0	0	0.387290	0	0
SLC39A11	201266	broad.mit.edu	37	17	70845913	70845913	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:70845913C>G	ENST00000542342.2	-	6	570	c.482G>C	c.(481-483)aGa>aCa	p.R161T	SLC39A11_ENST00000255559.3_Missense_Mutation_p.R154T|SLC39A11_ENST00000579732.1_Missense_Mutation_p.R154T	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	161					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CGCCTTCTTTCTCTGATATGC	0.532000													8	10					0	0	0.361761	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87370884	87370884	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:87370884G>T	ENST00000338056.3	+	7	1080	c.669G>T	c.(667-669)aaG>aaT	p.K223N	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.K206N|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.K206N	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	223										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CATATTTGAAGTATATCCAAA	0.313000													6	14					0.00307968	0.0032893	0.278610	1	0
P2RX4	5025	broad.mit.edu	37	12	121670268	121670268	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:121670268C>T	ENST00000337233.4	+	9	1244	c.936C>T	c.(934-936)atC>atT	p.I312I	P2RX4_ENST00000543171.1_Silent_p.I211I|P2RX4_ENST00000359949.7_Silent_p.I328I|P2RX4_ENST00000541532.1_3'UTR	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	312					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCACGCTCATCAAGGCCTATG	0.612000													22	13					0	0	0.717897	0	0
KIFC1	3833	broad.mit.edu	37	6	33372728	33372728	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:33372728C>A	ENST00000428849.2	+	7	1306	c.856C>A	c.(856-858)Cgg>Agg	p.R286R		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	286					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						ACTGACTGAGCGGGAAGAACG	0.607000													6	43					0.00448238	0.00477836	0.307466	1	0
ZNF681	148213	broad.mit.edu	37	19	23927544	23927544	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:23927544T>C	ENST00000402377.3	-	4	949	c.808A>G	c.(808-810)Aca>Gca	p.T270A	ZNF681_ENST00000395385.3_Missense_Mutation_p.T201A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTATGTGTTGTAATGTGTGAC	0.353000													8	48					0	0	0.307466	0	0
ZNF658	26149	broad.mit.edu	37	9	40772467	40772467	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:40772467T>A	ENST00000602553.1	-	5	3102	c.2808A>T	c.(2806-2808)aaA>aaT	p.K936N	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.K936N			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	936					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTCGTAGGGTTTCTCCCCCG	0.438000													53	36					0	0	0.870114	0	0
BBS10	79738	broad.mit.edu	37	12	76740736	76740736	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:76740736C>A	ENST00000393262.3	-	2	1112	c.1029G>T	c.(1027-1029)cgG>cgT	p.R343R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	343					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CAATGATCCTCCGGATAAGAG	0.388000									Bardet-Biedl syndrome				59	22					1.41401e-22	2.29383e-22	0.870114	1	0
F5	2153	broad.mit.edu	37	1	169492510	169492510	+	Silent	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:169492510T>C	ENST00000367796.3	-	21	6189	c.5988A>G	c.(5986-5988)acA>acG	p.T1996T	F5_ENST00000367797.3_Silent_p.T1991T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1991	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CATAGAACTCTGTGGTATAGC	0.443000													18	97					0	0	0.608945	0	0
EIF3F	8665	broad.mit.edu	37	11	8008914	8008914	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:8008914G>C	ENST00000533626.1	+	3	641	c.15G>C	c.(13-15)gcG>gcC	p.A5A	EIF3F_ENST00000449102.2_5'UTR|EIF3F_ENST00000537635.1_Silent_p.A20A|EIF3F_ENST00000309828.4_Silent_p.A5A			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	5						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCACACCGGCGGTACCAGTAA	0.612000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	54					0	0	0.740014	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128672	68128672	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:68128672C>G	ENST00000585558.1	+	4	937	c.549C>G	c.(547-549)ctC>ctG	p.L183L	KCNJ16_ENST00000283936.1_Silent_p.L148L|KCNJ16_ENST00000392671.1_Silent_p.L148L|KCNJ16_ENST00000392670.1_Silent_p.L148L|KCNJ16_ENST00000589377.1_Silent_p.L148L|KCNJ16_ENST00000586462.1_Silent_p.L187L			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	148					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGGCCGTGCTCATGGTGATCC	0.463000													16	154					0	0	0.575678	0	0
KIT	3815	broad.mit.edu	37	4	55564642	55564642	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:55564642G>T	ENST00000288135.5	+	3	627	c.530G>T	c.(529-531)cGc>cTc	p.R177L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	177	Ig-like C2-type 2.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.R177H(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGTGAAACGCGCCTACCAT	0.527000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				22	19					7.92952e-12	1.10671e-11	0.667858	1	0
RYR3	6263	broad.mit.edu	37	15	33945072	33945072	+	Silent	SNP	C	C	A	rs61749016		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:33945072C>A	ENST00000389232.4	+	32	4366	c.4296C>A	c.(4294-4296)ggC>ggA	p.G1432G	RYR3_ENST00000415757.3_Silent_p.G1432G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1432	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGAACTGGGCACCTGCTACC	0.562000													18	23					4.7796e-09	6.2451e-09	0.681144	1	0
RRH	10692	broad.mit.edu	37	4	110754370	110754370	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:110754370A>G	ENST00000317735.4	+	2	216	c.182A>G	c.(181-183)aAt>aGt	p.N61S		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	61					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		ACACCCACAAATGCAATTATT	0.388000													10	80					0	0	0.361761	0	0
C5orf42	65250	broad.mit.edu	37	5	37169220	37169220	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:37169220C>A	ENST00000274258.7	-	34	7133	c.3546G>T	c.(3544-3546)acG>acT	p.T1182T	C5orf42_ENST00000425232.2_Silent_p.T2302T|C5orf42_ENST00000508244.1_Silent_p.T2302T			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2302										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTTCTGCCCACGTCTTCTGCT	0.408000													12	80					6.40141e-05	7.28676e-05	0.387290	1	0
NCKAP5	344148	broad.mit.edu	37	2	133540014	133540014	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:133540014G>T	ENST00000409261.1	-	14	4743	c.4370C>A	c.(4369-4371)aCc>aAc	p.T1457N	NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1457N|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1457							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATCAGTCGCGGTTGCAGAGGC	0.512000													11	16					1.08611e-07	1.37525e-07	0.387290	1	0
PKD2L2	27039	broad.mit.edu	37	5	137259145	137259145	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:137259145G>A	ENST00000508638.1	+	8	1238	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	PKD2L2_ENST00000290431.5_Missense_Mutation_p.E496K|PKD2L2_ENST00000502810.1_Missense_Mutation_p.E474K|PKD2L2_ENST00000350250.4_Missense_Mutation_p.E462K|PKD2L2_ENST00000508883.1_Missense_Mutation_p.E496K	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	395						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TACCTATTCTGAAGTGAAAGC	0.269000													10	23					0	0	0.361761	0	0
PDHA2	5161	broad.mit.edu	37	4	96762259	96762259	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:96762259G>T	ENST00000295266.4	+	1	1021	c.958G>T	c.(958-960)Gat>Tat	p.D320Y		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	320					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AATTCTCCAAGATAGAATGGT	0.418000													22	36					4.35082e-09	5.69814e-09	0.592651	1	0
BRWD3	254065	broad.mit.edu	37	X	80001181	80001181	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:80001181G>T	ENST00000373275.4	-	7	694	c.478C>A	c.(478-480)Cat>Aat	p.H160N		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	160								p.H160N(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GGGAAAATATGACCAAAGCGA	0.398000													4	37					2.56e-06	3.07676e-06	0.150653	1	0
PPARG	5468	broad.mit.edu	37	3	12458213	12458213	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:12458213T>A	ENST00000397026.2	+	8	1147	c.764T>A	c.(763-765)aTc>aAc	p.I255N	PPARG_ENST00000397012.2_Missense_Mutation_p.I249N|PPARG_ENST00000309576.6_Missense_Mutation_p.I249N|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397015.2_Missense_Mutation_p.I249N|PPARG_ENST00000287820.6_Missense_Mutation_p.I277N|PPARG_ENST00000397010.2_Missense_Mutation_p.I249N|PPARG_ENST00000397000.1_Intron			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	277	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCATTCGTTATCTATGACATG	0.418000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						4	11					0	0	0.150653	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904349	144904349	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:144904349C>A	ENST00000370490.1	+	1	4661	c.406C>A	c.(406-408)Ctg>Atg	p.L136M	SLITRK2_ENST00000413937.2_Missense_Mutation_p.L136M|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L136M|SLITRK2_ENST00000447897.2_Missense_Mutation_p.L136M|SLITRK2_ENST00000434188.2_Missense_Mutation_p.L136M			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	136						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGAGAGCCTGGAGTATCT	0.493000													16	83					1.3612e-06	1.65493e-06	0.479597	1	0
RNF214	257160	broad.mit.edu	37	11	117109467	117109467	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:117109467G>T	ENST00000531452.1	+	3	304	c.258G>T	c.(256-258)caG>caT	p.Q86H	RNF214_ENST00000530849.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.Q86H|RNF214_ENST00000531287.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	86							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CAGCGCACCAGGTGGTTTTAG	0.498000													26	54					1.39806e-14	2.04829e-14	0.729181	1	0
SLC38A4	55089	broad.mit.edu	37	12	47168833	47168833	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:47168833G>T	ENST00000447411.1	-	13	1504	c.1299_splice	c.e13+1	p.P433_splice	SLC38A4_ENST00000266579.4_Splice_Site_p.P433_splice	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	433					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TGTACTTACTGGGAAGAGGAC	0.413000													14	73					2.32078e-09	3.05855e-09	0.479597	1	0
MUC12	10071	broad.mit.edu	37	7	100648570	100648570	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:100648570A>G	ENST00000379442.3	+	5	15155	c.15155A>G	c.(15154-15156)cAc>cGc	p.H5052R	MUC12_ENST00000536621.1_Missense_Mutation_p.H4909R			F5GWV9	F5GWV9_HUMAN	mucin 12, cell surface associated	4909										breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						ACAGCCTTCCACAGCAGCTCA	0.537000													3	6					0	0	0.150653	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821139	5821139	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:5821139C>A	ENST00000381095.3	-	5	2207	c.1580G>T	c.(1579-1581)tGg>tTg	p.W527L	NLGN4X_ENST00000538097.1_Missense_Mutation_p.W527L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.W527L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.W527L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.W547L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	527					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GAAGTTCGTCCAGTAGGTCAT	0.507000													32	35					5.8336e-16	8.83991e-16	0.779181	1	0
LOC344967	344967	broad.mit.edu	37	4	40045147	40045147	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:40045147C>A	ENST00000381811.2	-	0	1002					NR_027277.1																						CATGGTCACCCCTTCATGCAC	0.577000													8	15					0.00621372	0.00656153	0.335167	1	0
SV2A	9900	broad.mit.edu	37	1	149882165	149882165	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:149882165C>A	ENST00000369146.3	-	5	1536	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V	SV2A_ENST00000369145.1_Missense_Mutation_p.G349V	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	349					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGTCAGAGCCCCAATGGCAAA	0.612000													8	35					0.000157383	0.000176164	0.278610	1	0
TMC1	117531	broad.mit.edu	37	9	75369754	75369754	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:75369754C>A	ENST00000297784.5	+	12	1235	c.695C>A	c.(694-696)gCc>gAc	p.A232D	TMC1_ENST00000396237.3_Missense_Mutation_p.A232D|TMC1_ENST00000340019.3_Missense_Mutation_p.A232D	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	232					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GTTCCCAGAGCCGAAGAGGCA	0.428000													15	6					3.51602e-12	4.95667e-12	0.575678	1	0
TDRD5	163589	broad.mit.edu	37	1	179564867	179564867	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:179564867C>T	ENST00000444136.1	+	4	995	c.745C>T	c.(745-747)Ccg>Tcg	p.P249S	TDRD5_ENST00000367614.1_Missense_Mutation_p.P249S|TDRD5_ENST00000294848.8_Missense_Mutation_p.P249S	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	249					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CATGGAACCACCGAAGCAAAT	0.398000													5	164					0	0	0.184627	0	0
CDH8	1006	broad.mit.edu	37	16	62055059	62055059	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:62055059G>T	ENST00000577390.1	-	2	1203	c.249C>A	c.(247-249)ggC>ggA	p.G83G	CDH8_ENST00000577730.1_Silent_p.G83G|CDH8_ENST00000299345.6_Silent_p.G83G|CDH8_ENST00000584337.1_Silent_p.G83G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	83	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGCTTACCCGGCCAACAAGAA	0.408000													20	14					1.50039e-11	2.08712e-11	0.608945	1	0
CSNK1G3	1456	broad.mit.edu	37	5	122923771	122923771	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:122923771G>C	ENST00000395412.1	+	7	1402	c.683G>C	c.(682-684)aGa>aCa	p.R228T	CSNK1G3_ENST00000361991.2_Missense_Mutation_p.R228T|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.R228T|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.R228T|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.R228T|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.R228T|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.R153T|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.R115T|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.R228T	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	228	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		GAACAAAGTAGAAGAGACGAT	0.299000													5	14					0	0	0.184627	0	0
REPS1	85021	broad.mit.edu	37	6	139233926	139233926	+	Silent	SNP	G	G	A	rs140617448		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:139233926G>A	ENST00000450536.2	-	16	2521	c.1947C>T	c.(1945-1947)gcC>gcT	p.A649A	REPS1_ENST00000367663.4_Silent_p.A622A|REPS1_ENST00000258062.5_Silent_p.A648A|REPS1_ENST00000415951.2_Silent_p.A622A|REPS1_ENST00000409812.2_Silent_p.A558A			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	649						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GATGTTTCTCGGCTTCATCAT	0.448000													25	42					0	0	0.729181	0	0
EPG5	57724	broad.mit.edu	37	18	43535185	43535185	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:43535185C>A	ENST00000282041.5	-	2	217	c.183G>T	c.(181-183)aaG>aaT	p.K61N		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	61					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CAGTTACCACCTTCAGATGGT	0.463000													5	23					2.0095e-06	2.42381e-06	0.248553	1	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119311	32119311	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr21:32119311G>C	ENST00000333892.2	-	1	240	c.210C>G	c.(208-210)taC>taG	p.Y70*		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	70						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						AAAGTGGTCGGTAGCCACAGC	0.488000													3	58					0	0	0.115264	0	0
CRTAM	56253	broad.mit.edu	37	11	122738153	122738153	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:122738153A>T	ENST00000227348.4	+	8	901	c.854A>T	c.(853-855)aAa>aTa	p.K285I	CRTAM_ENST00000533709.1_Missense_Mutation_p.K86I	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	285					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GCAAGAAAGAAAAGTGGCATC	0.393000													4	14					0	0	0.150653	0	0
LCT	3938	broad.mit.edu	37	2	136569960	136569960	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:136569960G>T	ENST00000264162.2	-	7	2284	c.2274C>A	c.(2272-2274)ccC>ccA	p.P758P		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	758	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTTCCCCTATGGGCATGCCAT	0.443000													21	39					2.39556e-15	3.57843e-15	0.639603	1	0
OR1M1	125963	broad.mit.edu	37	19	9204564	9204564	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:9204564T>A	ENST00000429566.3	+	1	710	c.644T>A	c.(643-645)cTg>cAg	p.L215Q		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTCTGCATCCTGGCCTCCTAT	0.567000													31	21					0	0	0.819951	0	0
NFASC	23114	broad.mit.edu	37	1	204953162	204953162	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:204953162G>A	ENST00000367172.4	+	22	2806	c.2478G>A	c.(2476-2478)agG>agA	p.R826R	NFASC_ENST00000404076.1_Silent_p.R805R|NFASC_ENST00000404907.1_Silent_p.R822R|NFASC_ENST00000338586.6_Silent_p.R826R|NFASC_ENST00000367170.4_Silent_p.R826R|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000360049.4_Silent_p.R822R|NFASC_ENST00000539706.1_Silent_p.R822R|NFASC_ENST00000367171.4_Silent_p.R811R|NFASC_ENST00000513543.1_Silent_p.R822R|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000338515.6_Silent_p.R826R			O94856	NFASC_HUMAN	neurofascin	826	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGATCCCAGGGCTGCGCCCA	0.562000													30	26					0	0	0.760397	0	0
ST18	9705	broad.mit.edu	37	8	53062520	53062520	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:53062520C>A	ENST00000276480.7	-	16	2507	c.1824G>T	c.(1822-1824)gtG>gtT	p.V608V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	608						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CATTTTCATCCACTTCTATTT	0.408000													13	41					7.93312e-07	9.70117e-07	0.457914	1	0
CCHCR1	54535	broad.mit.edu	37	6	31112687	31112687	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:31112687G>A	ENST00000396268.3	-	14	2228	c.2040C>T	c.(2038-2040)acC>acT	p.T680T	CCHCR1_ENST00000396263.2_Silent_p.T538T|CCHCR1_ENST00000376266.5_Silent_p.T591T|CCHCR1_ENST00000451521.2_Silent_p.T644T	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	591					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CCTGCTGCTGGGTCAGCTCCT	0.632000													20	32					0	0	0.760397	0	0
OR56A1	120796	broad.mit.edu	37	11	6048502	6048502	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:6048502T>A	ENST00000316650.5	-	1	469	c.433A>T	c.(433-435)Aat>Tat	p.N145Y		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAAATTGATTAGTGATGATG	0.512000													32	97					0	0	0.760397	0	0
ATR	545	broad.mit.edu	37	3	142168294	142168294	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:142168294G>A	ENST00000350721.4	-	47	8033	c.7912C>T	c.(7912-7914)Ctt>Ttt	p.L2638F	ATR_ENST00000383101.3_Missense_Mutation_p.L2574F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2638	FATC.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTCCAACCAAGATACATCTGG	0.343000								Other conserved DNA damage response genes					17	68					0	0	0.520397	0	0
COL6A3	1293	broad.mit.edu	37	2	238283634	238283634	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:238283634G>A	ENST00000295550.4	-	8	3552	c.3100C>T	c.(3100-3102)Ctt>Ttt	p.L1034F	COL6A3_ENST00000472056.1_Missense_Mutation_p.L427F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L828F|COL6A3_ENST00000392003.2_Missense_Mutation_p.L627F|COL6A3_ENST00000392004.3_Missense_Mutation_p.L828F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L833F|COL6A3_ENST00000346358.4_Missense_Mutation_p.L834F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L828F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1034	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGCCATCAAGCAGAAACACC	0.557000													5	33					0	0	0.184627	0	0
MTOR	2475	broad.mit.edu	37	1	11181391	11181391	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:11181391T>C	ENST00000361445.4	-	49	6921	c.6845A>G	c.(6844-6846)cAg>cGg	p.Q2282R	MTOR_ENST00000376838.1_Missense_Mutation_p.Q487R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2282	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTCCACCTTCTGCATCAGAGT	0.537000													8	21					0	0	0.335167	0	0
P2RY4	5030	broad.mit.edu	37	X	69478986	69478986	+	Silent	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:69478986T>A	ENST00000374519.2	-	1	668	c.489A>T	c.(487-489)gtA>gtT	p.V163V		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	163					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GGCAGCCGGCTACGACCAACC	0.627000													19	32					0	0	0.717897	0	0
SNX33	257364	broad.mit.edu	37	15	75942361	75942361	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:75942361G>T	ENST00000308527.5	+	1	2115	c.918G>T	c.(916-918)cgG>cgT	p.R306R		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	306	PX.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TCGAAAAGCGGAAGCGGAGAC	0.572000													28	12					1.07637e-12	1.53284e-12	0.804634	1	0
POM121L12	285877	broad.mit.edu	37	7	53103577	53103577	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:53103577G>T	ENST00000408890.4	+	1	229	c.213G>T	c.(211-213)ccG>ccT	p.P71P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	71										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGGGCGCCCGGTGCCCAGCA	0.716000													8	11					0.000274275	0.000302767	0.307466	1	0
LILRB1	10859	broad.mit.edu	37	19	55142738	55142738	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:55142738C>A	ENST00000396331.1	+	4	408	c.51C>A	c.(49-51)ccC>ccA	p.P17P	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000324602.7_Silent_p.P17P|LILRB1_ENST00000396332.4_Silent_p.P17P|LILRB1_ENST00000396327.3_Silent_p.P17P|LILRB1_ENST00000427581.2_Silent_p.P53P|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396317.1_Silent_p.P17P|LILRB1_ENST00000396315.1_Silent_p.P17P|LILRB1_ENST00000434867.2_Silent_p.P17P|LILRB1_ENST00000396321.2_Intron	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	17					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GTCTGGGCCCCAGGACCCACG	0.672000										HNSCC(37;0.09)			35	8					5.85753e-14	8.51497e-14	0.870114	1	0
GPR112	139378	broad.mit.edu	37	X	135428176	135428176	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:135428176G>T	ENST00000394143.1	+	6	2602	c.2311G>T	c.(2311-2313)Gca>Tca	p.A771S	GPR112_ENST00000394141.1_Missense_Mutation_p.A566S|GPR112_ENST00000287534.4_Missense_Mutation_p.A708S|GPR112_ENST00000412101.1_Missense_Mutation_p.A566S|GPR112_ENST00000370652.1_Missense_Mutation_p.A771S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	771					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACAAAACCTGCAAATGAACT	0.348000													80	142					5.41189e-41	9.37726e-41	0.870114	1	0
KMT2B	9757	broad.mit.edu	37	19	36211923	36211923	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:36211923G>A	ENST00000222270.7	+	3	1674	c.1674G>A	c.(1672-1674)gaG>gaA	p.E558E	WBP7_ENST00000341701.1_Intron|WBP7_ENST00000420124.1_Silent_p.E558E|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1																					CAAAGGTGGAGGTCTCACCTG	0.602000													5	10					0	0	0.184627	0	0
TM7SF3	51768	broad.mit.edu	37	12	27148212	27148212	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:27148212C>G	ENST00000343028.4	-	5	873	c.648G>C	c.(646-648)caG>caC	p.Q216H	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	216						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TGACCATCCTCTGCAGATGCT	0.502000													7	110					0	0	0.307466	0	0
KRT9	3857	broad.mit.edu	37	17	39727994	39727994	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:39727994C>A	ENST00000246662.4	-	1	316	c.251G>T	c.(250-252)aGt>aTt	p.S84I	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	84	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				gccTAAACTACTGGCACTAAA	0.577000													7	6					3.09899e-07	3.85708e-07	0.307466	1	0
USP34	9736	broad.mit.edu	37	2	61575121	61575121	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:61575121G>C	ENST00000398571.2	-	15	2245	c.2169C>G	c.(2167-2169)atC>atG	p.I723M		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	723					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAGTTCGTGTGATACAAGACT	0.448000													42	53					0	0	0.859065	0	0
CAMK2D	817	broad.mit.edu	37	4	114378602	114378602	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:114378602C>A	ENST00000454265.2	-	19	2255	c.1397G>T	c.(1396-1398)aGt>aTt	p.S466I	CAMK2D_ENST00000418639.2_Missense_Mutation_p.S455I|CAMK2D_ENST00000342666.5_Missense_Mutation_p.S441I|CAMK2D_ENST00000515496.1_Missense_Mutation_p.S452I|CAMK2D_ENST00000394522.3_Missense_Mutation_p.S455I|CAMK2D_ENST00000511664.1_Missense_Mutation_p.S475I|CAMK2D_ENST00000505990.1_Missense_Mutation_p.S475I|CAMK2D_ENST00000394524.3_Missense_Mutation_p.S441I|CAMK2D_ENST00000514328.1_Missense_Mutation_p.S440I|CAMK2D_ENST00000296402.5_Missense_Mutation_p.S441I|CAMK2D_ENST00000429180.1_Missense_Mutation_p.S461I|CAMK2D_ENST00000379773.2_Missense_Mutation_p.S441I|CAMK2D_ENST00000394526.2_Missense_Mutation_p.S452I|CAMK2D_ENST00000508738.1_Missense_Mutation_p.S452I			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	441					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TGGCATTCCACTGCCATCCAT	0.483000													35	106					3.11337e-16	4.73492e-16	0.769981	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110408292	110408292	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:110408292G>A	ENST00000378402.5	+	11	952	c.848G>A	c.(847-849)cGa>cAa	p.R283Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	283	IPT/TIG 3.				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)			GGAAGCATTCGAGGTGGCACC	0.388000										HNSCC(38;0.096)			5	9					0	0	0.217242	0	0
MTM1	4534	broad.mit.edu	37	X	149807451	149807451	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:149807451C>T	ENST00000370396.2	+	7	534	c.480C>T	c.(478-480)aaC>aaT	p.N160N	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.N45N|MTM1_ENST00000413012.2_Silent_p.N123N|MTM1_ENST00000542741.1_Silent_p.N65N	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	160					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGTTTAACGTGGATGGAT	0.348000													179	190					0	0	0.870114	0	0
TENM3	55714	broad.mit.edu	37	4	183650187	183650187	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:183650187G>T	ENST00000511685.1	+	14	2561	c.2438G>T	c.(2437-2439)cGg>cTg	p.R813L	TENM3_ENST00000406950.2_Missense_Mutation_p.R813L|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		CCCTATTGTCGGGGACTGCCG	0.478000													17	6					1.55469e-16	2.37735e-16	0.654019	1	0
RPL31P11	641311	broad.mit.edu	37	1	161655029	161655029	+	RNA	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:161655029C>G	ENST00000426558.1	-	0	13					NR_002595.1																						AAAGGAAGAGCGCGAGGGATT	0.502000													5	19					0	0	0.217242	0	0
MROH2B	133558	broad.mit.edu	37	5	41055873	41055873	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:41055873G>C	ENST00000399564.4	-	10	1454	c.1004C>G	c.(1003-1005)aCt>aGt	p.T335S	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCTTAACAAAGTCAAGATTCC	0.418000													51	59					0	0	0.870114	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228789	57228789	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:57228789C>A	ENST00000396721.2	-	2	248	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	SDR16C5_ENST00000522671.1_Missense_Mutation_p.G40C|SDR16C5_ENST00000303749.3_Missense_Mutation_p.G40C			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	40					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ACTATTTCACCAGCAACGTTC	0.453000													12	24					4.3838e-07	5.41604e-07	0.435327	1	0
GRIA2	2891	broad.mit.edu	37	4	158233871	158233871	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:158233871A>G	ENST00000296526.7	+	4	835	c.510A>G	c.(508-510)gaA>gaG	p.E170E	GRIA2_ENST00000449365.1_Silent_p.E123E|GRIA2_ENST00000393815.2_Silent_p.E123E|GRIA2_ENST00000264426.9_Silent_p.E170E|GRIA2_ENST00000507898.1_Silent_p.E123E	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	170					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTGCTGCTGAAAAGAAATGGC	0.383000													4	39					0	0	0.150653	0	0
HRNR	388697	broad.mit.edu	37	1	152191421	152191421	+	Missense_Mutation	SNP	T	T	A	rs138393626		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:152191421T>A	ENST00000368801.2	-	3	2759	c.2684A>T	c.(2683-2685)cAg>cTg	p.Q895L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	895					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCACGCTGGCCGTGGCC	0.652000													16	53					0	0	0.500413	0	0
LRRC7	57554	broad.mit.edu	37	1	70587567	70587567	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:70587567C>A	ENST00000310961.5	+	27	4903	c.4485C>A	c.(4483-4485)gtC>gtA	p.V1495V	LRRC7_ENST00000035383.5_Silent_p.V1537V|LRRC7_ENST00000415775.2_Silent_p.V821V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1537	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCTTACTGTCTAAATATTTT	0.323000													4	12					0.00909568	0.00952692	0.150653	1	0
ZZEF1	23140	broad.mit.edu	37	17	3974200	3974200	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:3974200C>A	ENST00000381638.2	-	26	3977	c.3853G>T	c.(3853-3855)Gac>Tac	p.D1285Y		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1285							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGGCAGGGGTCGTCAGGAATG	0.388000													23	7					5.35047e-06	6.34872e-06	0.654019	1	0
GPIHBP1	338328	broad.mit.edu	37	8	144297147	144297147	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:144297147G>T	ENST00000330824.2	+	4	384	c.309G>T	c.(307-309)ctG>ctT	p.L103L		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	103	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGGCCTCCTGACCACCCACT	0.647000													5	11					5.18039e-06	6.15126e-06	0.278610	1	0
WIPF1	7456	broad.mit.edu	37	2	175432714	175432714	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:175432714C>A	ENST00000392547.2	-	6	1316	c.1217G>T	c.(1216-1218)gGa>gTa	p.G406V	WIPF1_ENST00000359761.3_Missense_Mutation_p.G406V|WIPF1_ENST00000409891.1_Missense_Mutation_p.G406V|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000272746.5_Missense_Mutation_p.G406V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.G406V|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	406	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ACTGTCTACTCCACTCCTGGA	0.597000													5	16					0.014758	0.0153809	0.184627	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33682438	33682438	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:33682438C>A	ENST00000321505.4	+	19	5326	c.5146C>A	c.(5146-5148)Cca>Aca	p.P1716T	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P1722T					KIAA1549-like																		GTTCGCCATCCCAGCTGCCAA	0.567000													9	8					1.08611e-07	1.37525e-07	0.387290	1	0
TRPC5	7224	broad.mit.edu	37	X	111155653	111155653	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:111155653G>T	ENST00000262839.2	-	3	1684	c.766C>A	c.(766-768)Ctg>Atg	p.L256M		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	256					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCTTGGTCCAGCAGGTCTTTG	0.547000													142	143					2.24044e-49	3.91436e-49	0.870114	1	0
TMEM132E	124842	broad.mit.edu	37	17	32963124	32963124	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:32963124C>A	ENST00000321639.5	+	9	2134	c.1806C>A	c.(1804-1806)gcC>gcA	p.A602A		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	602						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)		AGGTGGTGGCCAGCCTGGCCC	0.642000													11	4					0.00829132	0.00874442	0.361761	1	0
PDLIM1	9124	broad.mit.edu	37	10	97028535	97028535	+	Splice_Site	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:97028535C>G	ENST00000329399.6	-	3	441	c.333_splice	c.e3+1	p.Q111_splice	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	111					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		AAGAACTTACCTGGGGTTCAG	0.507000													5	44					0	0	0.278610	0	0
C10orf137	26098	broad.mit.edu	37	10	127408432	127408432	+	Missense_Mutation	SNP	G	G	C	rs61742141	byFrequency	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:127408432G>C	ENST00000337623.3	+	1	161	c.56G>C	c.(55-57)cGa>cCa	p.R19P	C10orf137_ENST00000356792.4_Missense_Mutation_p.R19P	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCCGCCGCTCGAGGAGGGCTC	0.697000													3	0					0	0	0.115264	0	0
POTEH	23784	broad.mit.edu	37	22	16287674	16287674	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:16287674C>A	ENST00000343518.6	-	1	263	c.212G>T	c.(211-213)tGg>tTg	p.W71L		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	71										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCCCCTGCACCAGGGGAAGCA	0.582000													38	162					9.4991e-31	1.61264e-30	0.870114	1	0
KIF6	221458	broad.mit.edu	37	6	39507899	39507899	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:39507899G>T	ENST00000287152.7	-	13	1619	c.1525C>A	c.(1525-1527)Cca>Aca	p.P509T	KIF6_ENST00000373213.4_Missense_Mutation_p.P348T|KIF6_ENST00000373215.3_Missense_Mutation_p.P509T|KIF6_ENST00000373216.3_Missense_Mutation_p.P509T|KIF6_ENST00000538893.1_Intron	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	509					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGGAAGGGTGGGCTCTGGGAC	0.493000													36	137					1.90571e-15	2.85177e-15	0.796494	1	0
TEX13B	56156	broad.mit.edu	37	X	107225336	107225336	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:107225336G>C	ENST00000302917.1	-	2	114	c.22C>G	c.(22-24)Ccc>Gcc	p.P8A		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	8										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCACTACTGGGGTCCTCAGGT	0.542000													7	45					0	0	0.307466	0	0
CCR8	1237	broad.mit.edu	37	3	39374753	39374753	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:39374753C>T	ENST00000326306.4	+	2	1069	c.931C>T	c.(931-933)Ctc>Ttc	p.L311F	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Missense_Mutation_p.L228F	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	311					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CAAGAAACACCTCTCAGAAAT	0.433000													10	30					0	0	0.335167	0	0
HOXD11	3237	broad.mit.edu	37	2	176972320	176972320	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:176972320C>A	ENST00000249504.5	+	1	307	c.237C>A	c.(235-237)ggC>ggA	p.G79G	HOXD11_ENST00000498438.1_Intron	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	79						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		gcggcggcggcggcggcggca	0.811000			T	NUP98	AML								3	0					0.00116845	0.00126487	0.217242	1	0
GPR113	165082	broad.mit.edu	37	2	26534166	26534166	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:26534166G>T	ENST00000333478.6	-	8	2415	c.1833C>A	c.(1831-1833)gcC>gcA	p.A611A	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Silent_p.A413A|GPR113_ENST00000311519.1_Silent_p.A810A|GPR113_ENST00000421160.2_Silent_p.A741A	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	810					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A611A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGCAGGGCGGCGTGGCGGA	0.622000													18	4					2.37509e-13	3.40836e-13	0.592651	1	0
ACTL6B	51412	broad.mit.edu	37	7	100252740	100252740	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:100252740C>T	ENST00000160382.5	-	4	377	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	91					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCCCAGTCCTCGACTGGGGCC	0.597000													10	24					0	0	0.335167	0	0
LPO	4025	broad.mit.edu	37	17	56342334	56342334	+	Splice_Site	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:56342334T>A	ENST00000262290.4	+	10	1834	c.1519_splice	c.e10+1	p.D506_splice	LPO_ENST00000421678.2_Splice_Site_p.D423_splice|LPO_ENST00000582328.1_Splice_Site_p.D423_splice|LPO_ENST00000543544.1_Splice_Site_p.D447_splice	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	506					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGTCAAAGATGGTATGCCCT	0.512000													11	36					0	0	0.411799	0	0
GPR101	83550	broad.mit.edu	37	X	136112889	136112889	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:136112889G>T	ENST00000298110.1	-	1	944	c.945C>A	c.(943-945)gaC>gaA	p.D315E		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	315						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CCATGCTGCCGTCGCTGGCCA	0.597000													98	143					6.29576e-42	1.09426e-41	0.870114	1	0
CADM2	253559	broad.mit.edu	37	3	85961574	85961574	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:85961574G>T	ENST00000383699.3	+	6	1208	c.581G>T	c.(580-582)aGc>aTc	p.S194I	CADM2_ENST00000405615.2_Missense_Mutation_p.S187I|CADM2_ENST00000407528.2_Missense_Mutation_p.S185I	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	185	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTCACTGTCAGCAGCACACTG	0.418000													10	26					7.03913e-09	9.14052e-09	0.411799	1	0
COL4A2	1284	broad.mit.edu	37	13	111084685	111084685	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:111084685C>A	ENST00000360467.5	+	11	968	c.662C>A	c.(661-663)cCc>cAc	p.P221H		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	221	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCACCTGGACCCCCTGGACCA	0.458000													5	19					3.59834e-05	4.14376e-05	0.217242	1	0
AKAP9	10142	broad.mit.edu	37	7	91632045	91632045	+	Silent	SNP	A	A	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:91632045A>C	ENST00000359028.2	+	9	3075	c.2850A>C	c.(2848-2850)acA>acC	p.T950T	AKAP9_ENST00000356239.3_Silent_p.T938T|AKAP9_ENST00000358100.2_Silent_p.T950T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	950	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAAGGATACAACAGAACTCA	0.368000			T	BRAF	papillary thyroid								7	26					0	0	0.248553	0	0
TRAV27	28655	broad.mit.edu	37	14	22616569	22616569	+	RNA	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:22616569C>T	ENST00000390457.2	+	0	407																											TGATACAGGCCTCTACCTCTG	0.562000													36	56					0	0	0.870114	0	0
FLT3	2322	broad.mit.edu	37	13	28624273	28624273	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:28624273C>A	ENST00000380982.4	-	6	782	c.701G>T	c.(700-702)aGa>aTa	p.R234I	FLT3_ENST00000241453.7_Missense_Mutation_p.R234I|FLT3_ENST00000537084.1_Missense_Mutation_p.R234I			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	234					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CAGTTCATTTCTGGCACAGCA	0.408000			"""Mis, O"""		"""AML, ALL"""								32	44					6.53348e-20	1.03683e-19	0.788014	1	0
ADRA2C	152	broad.mit.edu	37	4	3768696	3768696	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:3768696G>T	ENST00000330055.5	+	1	572	c.363G>T	c.(361-363)caG>caT	p.Q121H	ADRA2C_ENST00000509482.1_Missense_Mutation_p.Q121H	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	121					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	ACTTCGGGCAGGTGTGGTGCG	0.627000													9	5					0.00621372	0.00656153	0.335167	1	0
LOC645166	645166	broad.mit.edu	37	1	148951265	148951265	+	RNA	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:148951265G>C	ENST00000539543.1	+	0	275					NR_027355.1																						agttgcactgggtactggctg	0.473000													6	37					0	0	0.387290	0	0
OR4C13	283092	broad.mit.edu	37	11	49974755	49974755	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:49974755G>T	ENST00000555099.1	+	1	813	c.781G>T	c.(781-783)Gct>Tct	p.A261S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GAGACCTCCAGCTACTTTACC	0.408000													20	105					0.00152264	0.00164512	0.592651	1	0
PHKA2	5256	broad.mit.edu	37	X	18912363	18912363	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:18912363G>T	ENST00000379942.4	-	32	4161	c.3496C>A	c.(3496-3498)Cag>Aag	p.Q1166K	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1166					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCACGATCTGGTCCACGTGG	0.607000													10	8					2.74318e-10	3.69054e-10	0.335167	1	0
EPHB1	2047	broad.mit.edu	37	3	134911538	134911538	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:134911538A>C	ENST00000398015.3	+	11	2373	c.2003A>C	c.(2002-2004)gAg>gCg	p.E668A	EPHB1_ENST00000493838.1_Missense_Mutation_p.E229A	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	668	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTTCTGAGTGAGGCGAGCATC	0.552000													11	70					0	0	0.411799	0	0
ERC1	23085	broad.mit.edu	37	12	1137202	1137202	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:1137202A>G	ENST00000397203.2	+	2	539	c.133A>G	c.(133-135)Agt>Ggt	p.S45G	ERC1_ENST00000360905.4_Missense_Mutation_p.S45G|ERC1_ENST00000355446.5_Missense_Mutation_p.S45G|ERC1_ENST00000546231.2_Missense_Mutation_p.S45G|ERC1_ENST00000589028.1_Missense_Mutation_p.S45G|ERC1_ENST00000543086.3_Missense_Mutation_p.S45G			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	45					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TTCGGGAAGCAGTGTTGGAGG	0.547000													16	62					0	0	0.539581	0	0
SLC4A10	57282	broad.mit.edu	37	2	162711524	162711524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:162711524G>A	ENST00000375514.5	+	6	781	c.494G>A	c.(493-495)tGg>tAg	p.W165*	SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.W154*|SLC4A10_ENST00000535165.1_Nonsense_Mutation_p.W154*|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.W154*|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.W154*|SLC4A10_ENST00000446997.1_Nonsense_Mutation_p.W154*	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	154					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGAGAAAGGTGGAGCAAGCCT	0.383000													6	32					0	0	0.361761	0	0
POM121L12	285877	broad.mit.edu	37	7	53104089	53104089	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:53104089C>A	ENST00000408890.4	+	1	741	c.725C>A	c.(724-726)cCc>cAc	p.P242H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	242										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGCCTCGGCCCCTGGAGCCTC	0.642000													6	26					0.000151284	0.000170246	0.435327	1	0
FAM171A1	221061	broad.mit.edu	37	10	15256254	15256254	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:15256254C>A	ENST00000378116.4	-	8	1339	c.1333G>T	c.(1333-1335)Gat>Tat	p.D445Y	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	445						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTGAGGTTATCAAAGGAGATC	0.498000													9	10					2.74318e-10	3.69054e-10	0.335167	1	0
ZNF280A	129025	broad.mit.edu	37	22	22868873	22868873	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:22868873C>A	ENST00000302097.3	-	2	1334	c.1082G>T	c.(1081-1083)gGg>gTg	p.G361V		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGCAGAGGGCCCCATGGCGAT	0.512000													37	31					1.49673e-21	2.4048e-21	0.819951	1	0
SRCIN1	80725	broad.mit.edu	37	17	36707497	36707497	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:36707497G>C	ENST00000264659.7	-	15	3080	c.2856C>G	c.(2854-2856)agC>agG	p.S952R	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.S986R	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	824					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GATGGGCCTTGCTGGCACAGT	0.677000													5	9					0	0	0.184627	0	0
MSH4	4438	broad.mit.edu	37	1	76349377	76349377	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:76349377G>T	ENST00000263187.3	+	15	2082	c.1978G>T	c.(1978-1980)Gaa>Taa	p.E660*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	660					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AATATCTGCGGAAAAACCTAT	0.318000								Mismatch excision repair (MMR)					12	17					7.03913e-09	9.14052e-09	0.411799	1	0
VSIG10	54621	broad.mit.edu	37	12	118504493	118504493	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:118504493C>T	ENST00000359236.5	-	9	1850	c.1574G>A	c.(1573-1575)aGc>aAc	p.S525N		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	525						integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						CTCCTCACTGCTGTCATCTGT	0.438000													14	246					0	0	0.520397	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103907	55103907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:55103907C>A	ENST00000491143.2	+	1	991	c.959C>A	c.(958-960)tCg>tAg	p.S320*		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	320	Poly-Ser.				organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCGTCCTCATCGGGCTCGCAG	0.662000													2	1					0.00198382	0.00212561	0.248553	1	0
MYH2	4620	broad.mit.edu	37	17	10432343	10432343	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:10432343G>T	ENST00000245503.5	-	27	3792	c.3408C>A	c.(3406-3408)gcC>gcA	p.A1136A	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.A1136A|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1136					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						TCTCTGCTTTGGCCCGGGAGG	0.582000													11	21					6.40141e-05	7.28676e-05	0.387290	1	0
POU4F2	5458	broad.mit.edu	37	4	147561327	147561327	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:147561327G>A	ENST00000281321.3	+	2	845	c.597G>A	c.(595-597)ggG>ggA	p.G199G		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	199					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TGAGTCCCGGGCTGGCCCTGG	0.716000													4	5					0	0	0.248553	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124979373	124979373	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:124979373C>A	ENST00000431078.1	+	2	538	c.174C>A	c.(172-174)ctC>ctA	p.L58L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	58	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGCTCAACTCAACTGGAGAG	0.478000													3	37					0.00024832	0.000275565	0.150653	1	0
GABRP	2568	broad.mit.edu	37	5	170222221	170222221	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:170222221G>T	ENST00000518525.1	+	6	714	c.250G>T	c.(250-252)Gcc>Tcc	p.A84S	GABRP_ENST00000519598.1_Missense_Mutation_p.A84S|GABRP_ENST00000519385.1_Missense_Mutation_p.A84S|GABRP_ENST00000265294.4_Missense_Mutation_p.A84S			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	84						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGACTACACAGCCACCATATA	0.567000													60	88					1.77355e-41	3.07624e-41	0.870114	1	0
HIST1H3C	8352	broad.mit.edu	37	6	26045849	26045849	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:26045849C>T	ENST00000540144.1	+	1	211	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	71					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						GTTCCAGCGCCTGGTGCGAGA	0.627000													12	56					0	0	0.520397	0	0
CCND2	894	broad.mit.edu	37	12	4398020	4398020	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:4398020C>T	ENST00000261254.3	+	4	853	c.584C>T	c.(583-585)gCc>gTc	p.A195V		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	195					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TTTAAGTTTGCCATGTACCCA	0.547000			T	IGL@	"""NHL,CLL"""								25	60					0	0	0.717897	0	0
GDI1	2664	broad.mit.edu	37	X	153668786	153668786	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:153668786C>A	ENST00000447750.2	+	6	987	c.652C>A	c.(652-654)Cgg>Agg	p.R218R		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	218					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCCCTGGCCCGGTATGGCAA	0.567000													14	21					3.45872e-05	4.0022e-05	0.500413	1	0
FLG	2312	broad.mit.edu	37	1	152283550	152283550	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:152283550C>A	ENST00000368799.1	-	3	3847	c.3812G>T	c.(3811-3813)aGc>aTc	p.S1271I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1271	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTCCTGGCTAACACTGGA	0.547000									Ichthyosis				88	100					3.29526e-42	5.73341e-42	0.870114	1	0
SETD2	29072	broad.mit.edu	37	3	47084172	47084172	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:47084172T>C	ENST00000409792.3	-	17	7159	c.7117A>G	c.(7117-7119)Aat>Gat	p.N2373D		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAGAGATTATTTGTCACAACC	0.418000			"""N, F, S, Mis"""		clear cell renal carcinoma								10	14					0	0	0.361761	0	0
SENP7	57337	broad.mit.edu	37	3	101046534	101046534	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:101046534C>A	ENST00000394095.2	-	23	3044	c.2991G>T	c.(2989-2991)ttG>ttT	p.L997F	SENP7_ENST00000358203.3_Missense_Mutation_p.L833F|SENP7_ENST00000394094.2_Missense_Mutation_p.L932F|SENP7_ENST00000314261.7_Missense_Mutation_p.L931F|SENP7_ENST00000394091.1_Missense_Mutation_p.L833F|SENP7_ENST00000394085.3_Missense_Mutation_p.L185F|SENP7_ENST00000348610.3_Missense_Mutation_p.L964F	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	997	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCACATACTGCAATAAATATA	0.368000													9	27					2.17888e-05	2.53875e-05	0.335167	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209209900	209209900	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:209209900A>T	ENST00000264380.4	+	33	5251	c.5093A>T	c.(5092-5094)gAa>gTa	p.E1698V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1698					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGTGCCGAAGAAGGGCTTCCA	0.343000													5	20					0	0	0.217242	0	0
LMX1A	4009	broad.mit.edu	37	1	165182991	165182991	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:165182991C>G	ENST00000342310.3	-	5	938	c.556G>C	c.(556-558)Gct>Cct	p.A186P	LMX1A_ENST00000367893.4_Missense_Mutation_p.A186P|LMX1A_ENST00000294816.2_Missense_Mutation_p.A186P	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	186						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCTTCCTCAGCAGTTCCTTTC	0.488000													37	198					0	0	0.847076	0	0
AXIN1	8312	broad.mit.edu	37	16	364636	364636	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:364636C>A	ENST00000262320.3	-	3	1297	c.926G>T	c.(925-927)gGc>gTc	p.G309V	AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.G309V	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	309	Interaction with TP53 (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAGGGCATAGCCGGCATTGAC	0.597000													3	5					0.115264	0.117575	0.115264	1	0
MYBL2	4605	broad.mit.edu	37	20	42315707	42315707	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:42315707A>G	ENST00000217026.4	+	5	622	c.495A>G	c.(493-495)ccA>ccG	p.P165P	MYBL2_ENST00000396863.4_Silent_p.P141P	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	165	HTH myb-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGATGTTGCCAGGGAGGTAAG	0.612000													4	3					0	0	0.184627	0	0
KMT2C	58508	broad.mit.edu	37	7	151933018	151933018	+	Splice_Site	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:151933018C>A	ENST00000355193.2	-	16	2871	c.2652_splice	c.e16-1	p.G885_splice	KMT2C_ENST00000262189.6_Splice_Site_p.G885_splice					lysine (K)-specific methyltransferase 2C																		GACCCACGGCCCTATGTAACA	0.458000													20	41					0.00741294	0.00782296	0.557998	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532169	84532169	+	RNA	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:84532169G>T	ENST00000527857.1	+	0	2191					NR_026851.1																						TACGTCCTCAGAGCAAAATTT	0.473000													21	14					6.07407e-21	9.72199e-21	0.717897	1	0
PHF8	23133	broad.mit.edu	37	X	54029093	54029093	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:54029093C>A	ENST00000338154.6	-	9	1473	c.969G>T	c.(967-969)acG>acT	p.T323T	PHF8_ENST00000322659.8_Silent_p.T323T|PHF8_ENST00000357988.5_Silent_p.T359T|PHF8_ENST00000338946.6_Silent_p.T323T	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	359	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AGTCCACAGGCGTCAGCACAG	0.488000													19	17					1.96292e-10	2.64931e-10	0.592651	1	0
TG	7038	broad.mit.edu	37	8	133900459	133900459	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:133900459C>G	ENST00000220616.4	+	10	2447	c.2407C>G	c.(2407-2409)Cta>Gta	p.L803V	TG_ENST00000377869.1_Missense_Mutation_p.L803V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	803	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCCAAGCTGCTAGTGAAGAT	0.522000													33	24					0	0	0.819951	0	0
LEP	3952	broad.mit.edu	37	7	127894609	127894609	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:127894609C>A	ENST00000308868.4	+	3	348	c.297C>A	c.(295-297)aaC>aaA	p.N99K		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	99					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						AAATATCCAACGACCTGGAGA	0.562000													27	55					1.26454e-06	1.54188e-06	0.693898	1	0
ATP2B3	492	broad.mit.edu	37	X	152825354	152825354	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:152825354C>G	ENST00000370186.1	+	16	3077	c.2751C>G	c.(2749-2751)ggC>ggG	p.G917G	ATP2B3_ENST00000370181.2_Silent_p.G917G|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000359149.3_Silent_p.G931G|ATP2B3_ENST00000349466.2_Silent_p.G931G|ATP2B3_ENST00000263519.4_Silent_p.G931G|ATP2B3_ENST00000393842.1_Silent_p.G917G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	931					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.G931G(2)|p.G917G(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACATTCTGGGCCACGCCGTGT	0.642000													26	22					0	0	0.740014	0	0
USP27X	389856	broad.mit.edu	37	X	49646012	49646012	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:49646012G>C	ENST00000508866.2	+	1	1543	c.1102G>C	c.(1102-1104)Gct>Cct	p.A368P		NM_001145073.1	NP_001138545.1	A6NNY8	UBP27_HUMAN	ubiquitin specific peptidase 27, X-linked	368					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)	7						TTCCTTGTTTGCTGTGGTTAA	0.463000													6	7					0	0	0.217242	0	0
DNAH3	55567	broad.mit.edu	37	16	21008707	21008707	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:21008707C>A	ENST00000261383.3	-	44	6498	c.6499G>T	c.(6499-6501)Ggt>Tgt	p.G2167C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2167	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AACCAGTAACCATGGTCAATC	0.552000													6	10					0.0381472	0.039294	0.278610	1	0
BTBD11	121551	broad.mit.edu	37	12	108045504	108045504	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:108045504G>T	ENST00000280758.5	+	16	3573	c.3045G>T	c.(3043-3045)gaG>gaT	p.E1015D	BTBD11_ENST00000494235.2_Missense_Mutation_p.E94D|BTBD11_ENST00000357167.4_Missense_Mutation_p.E552D|BTBD11_ENST00000420571.2_Missense_Mutation_p.E896D	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1015						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GACACTGTGAGATTATCTGTG	0.468000													10	33					4.3838e-07	5.41604e-07	0.435327	1	0
DYSF	8291	broad.mit.edu	37	2	71781014	71781014	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:71781014C>A	ENST00000258104.3	+	21	2285	c.2008C>A	c.(2008-2010)Cat>Aat	p.H670N	DYSF_ENST00000413539.2_Missense_Mutation_p.H701N|DYSF_ENST00000409651.1_Missense_Mutation_p.H702N|DYSF_ENST00000409762.1_Missense_Mutation_p.H687N|DYSF_ENST00000410041.1_Missense_Mutation_p.H688N|DYSF_ENST00000394120.2_Missense_Mutation_p.H671N|DYSF_ENST00000429174.2_Missense_Mutation_p.H670N|DYSF_ENST00000409582.3_Missense_Mutation_p.H687N|DYSF_ENST00000409366.1_Missense_Mutation_p.H671N|DYSF_ENST00000409744.1_Missense_Mutation_p.H657N|DYSF_ENST00000410020.3_Missense_Mutation_p.H688N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	670						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGACATCAGCCATAGAATCGA	0.552000													18	6					6.94344e-10	9.25976e-10	0.539581	1	0
GP6	51206	broad.mit.edu	37	19	55539168	55539168	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:55539168C>A	ENST00000310373.3	-	4	415	c.388G>T	c.(388-390)Gta>Tta	p.V130L	CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|GP6_ENST00000417454.1_Missense_Mutation_p.V130L|GP6_ENST00000333884.2_Missense_Mutation_p.V130L|CTC-550B14.7_ENST00000586845.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	130	Ig-like C2-type 2.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TGTAGGGTTACGTCCCCTCCT	0.567000													22	21					2.21704e-12	3.13597e-12	0.639603	1	0
OR14K1	343170	broad.mit.edu	37	1	247902345	247902345	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:247902345G>T	ENST00000283225.2	+	1	429	c.429G>T	c.(427-429)atG>atT	p.M143I	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1									p.M143I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TCCAGTTGATGGCTCTGTCCT	0.517000													41	37					2.87052e-16	4.3735e-16	0.812448	1	0
IGHMBP2	3508	broad.mit.edu	37	11	68704073	68704073	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:68704073C>G	ENST00000255078.3	+	13	2236	c.2125C>G	c.(2125-2127)Cag>Gag	p.Q709E		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	709					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGCTCCATCTCAGCCCAGCCT	0.637000													2	4					0	0	0.150653	0	0
IMPDH1	3614	broad.mit.edu	37	7	128049523	128049523	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:128049523G>A	ENST00000338791.6	-	2	512	c.162C>T	c.(160-162)ctC>ctT	p.L54L	IMPDH1_ENST00000348127.6_Intron|IMPDH1_ENST00000343214.4_Intron|IMPDH1_ENST00000354269.5_Intron|IMPDH1_ENST00000419067.2_Silent_p.L54L|IMPDH1_ENST00000378717.4_Intron	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	0					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GGTGTGTAGCGAGGTCCAATC	0.567000													8	28					0	0	0.411799	0	0
SYT13	57586	broad.mit.edu	37	11	45265684	45265684	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:45265684C>A	ENST00000020926.3	-	6	1311	c.1200G>T	c.(1198-1200)tcG>tcT	p.S400S		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	400						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCTCAGAGCCCGAGGTGTGCA	0.647000													4	27					0.0381472	0.039294	0.278610	1	0
HOXD12	3238	broad.mit.edu	37	2	176965452	176965452	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:176965452C>G	ENST00000406506.2	+	2	849	c.777C>G	c.(775-777)cgC>cgG	p.R259R	HOXD12_ENST00000404162.2_3'UTR			P35452	HXD12_HUMAN	homeobox D12	259						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AGAAGAAGCGCGTGGTGCTTC	0.582000													7	3					0	0	0.307466	0	0
FAM135B	51059	broad.mit.edu	37	8	139153486	139153486	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:139153486G>A	ENST00000395297.1	-	17	3915	c.3745C>T	c.(3745-3747)Cct>Tct	p.P1249S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1249										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCCAGGTGAGGCCCAGAGAGT	0.532000										HNSCC(54;0.14)			22	62					0	0	0.639603	0	0
ADRB3	155	broad.mit.edu	37	8	37823637	37823637	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:37823637G>T	ENST00000345060.3	-	1	846	c.351C>A	c.(349-351)gaC>gaA	p.D117E		NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	117					carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	CACACAGCACGTCCACCGAGG	0.687000													3	4					0.00024832	0.000275565	0.150653	1	0
LRRC10	376132	broad.mit.edu	37	12	70004028	70004028	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:70004028C>A	ENST00000361484.3	-	1	914	c.591G>T	c.(589-591)gtG>gtT	p.V197V		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	197						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGTTCCAGTCCACATCAATCA	0.577000													19	47					1.96292e-10	2.64931e-10	0.592651	1	0
CHST8	64377	broad.mit.edu	37	19	34263888	34263888	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:34263888C>A	ENST00000262622.3	+	4	1953	c.1195C>A	c.(1195-1197)Caa>Aaa	p.Q399K	CHST8_ENST00000434302.1_Missense_Mutation_p.Q399K|CHST8_ENST00000438847.2_Missense_Mutation_p.Q399K	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	399					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CTCGGCCCTGCAAAGGCAGCG	0.612000													7	2					0.00448238	0.00477836	0.307466	1	0
EIF4E1B	253314	broad.mit.edu	37	5	176072392	176072392	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:176072392C>T	ENST00000318682.6	+	8	1073	c.489C>T	c.(487-489)atC>atT	p.I163I	EIF4E1B_ENST00000504597.1_Silent_p.I163I|EIF4E1B_ENST00000512734.1_3'UTR	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	163	EIF4EBP1/2/3 binding (By similarity).				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGTCTGATCGGGGAGAGCT	0.597000													6	14					0	0	0.217242	0	0
WARS	7453	broad.mit.edu	37	14	100820131	100820131	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:100820131C>G	ENST00000355338.2	-	6	1236	c.618G>C	c.(616-618)ctG>ctC	p.L206L	WARS_ENST00000392882.2_Silent_p.L206L|WARS_ENST00000358655.4_Silent_p.L165L|WARS_ENST00000557135.1_Silent_p.L206L|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000344102.5_Silent_p.L165L|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000556645.1_Silent_p.L165L	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	206					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GGTCCAGGGTCAGGTCCTTCC	0.498000													14	85					0	0	0.457914	0	0
PCDH17	27253	broad.mit.edu	37	13	58207450	58207450	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:58207450C>G	ENST00000377918.3	+	1	796	c.770C>G	c.(769-771)cCg>cGg	p.P257R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	257	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P257Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAGAACGCTCCGCTGGGTACA	0.582000													16	9					0	0	0.557998	0	0
DOCK10	55619	broad.mit.edu	37	2	225659773	225659773	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:225659773C>G	ENST00000409592.3	-	45	5072	c.4959G>C	c.(4957-4959)aaG>aaC	p.K1653N	DOCK10_ENST00000258390.7_Missense_Mutation_p.K1659N			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1659	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCCTTATACGCTTAGTCAGGT	0.473000													27	39					0	0	0.729181	0	0
LAMB4	22798	broad.mit.edu	37	7	107703433	107703433	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:107703433G>T	ENST00000388781.3	-	23	3151	c.3068C>A	c.(3067-3069)tCc>tAc	p.S1023Y	LAMB4_ENST00000388780.3_Missense_Mutation_p.S1023Y|LAMB4_ENST00000205386.4_Missense_Mutation_p.S1023Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1023	Laminin EGF-like 11.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGCATGGCAGGAGCATCCTGT	0.498000													12	16					2.61681e-11	3.61022e-11	0.457914	1	0
NBPF22P	285622	broad.mit.edu	37	5	85592195	85592195	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:85592195C>A	ENST00000590707.1	+	0	1494					NR_003719.2																						GTTCAAGTCCCAACACAATAC	0.413000													7	8					8.12818e-05	9.19624e-05	0.248553	1	0
CHL1	10752	broad.mit.edu	37	3	432771	432771	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:432771C>A	ENST00000256509.2	+	22	3362	c.2720C>A	c.(2719-2721)aCa>aAa	p.T907K	CHL1_ENST00000397491.2_Missense_Mutation_p.T891K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	891	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTCATTTAACAGTCTTAGCC	0.388000													6	16					0.00198382	0.00212561	0.248553	1	0
OR5L2	26338	broad.mit.edu	37	11	55595459	55595459	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:55595459C>A	ENST00000378397.1	+	1	765	c.765C>A	c.(763-765)atC>atA	p.I255I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ATGGAACAATCCTTTACATTT	0.507000										HNSCC(27;0.073)			24	85					6.36457e-07	7.8344e-07	0.667858	1	0
NKAIN1	79570	broad.mit.edu	37	1	31656765	31656765	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:31656765G>T	ENST00000373736.2	-	4	376	c.370C>A	c.(370-372)Cgc>Agc	p.R124S	NKAIN1_ENST00000398657.2_Missense_Mutation_p.R53S|NKAIN1_ENST00000263693.1_Missense_Mutation_p.R80S	NM_024522.2	NP_078798.2	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1	124						integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		AGAGCCAGGCGGGAGTTCAGA	0.597000											OREG0004725	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	13					1.1804e-14	1.73393e-14	0.667858	1	0
POU6F2	11281	broad.mit.edu	37	7	39503862	39503862	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:39503862G>A	ENST00000559001.1	+	8	1589	c.1488G>A	c.(1486-1488)ctG>ctA	p.L496L	POU6F2_ENST00000403058.1_Silent_p.L551L|POU6F2_ENST00000518318.2_Intron			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	551	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGCCAAACTGAACCCTGGCC	0.517000													44	94					0	0	0.870114	0	0
VRK2	7444	broad.mit.edu	37	2	58276044	58276044	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:58276044C>A	ENST00000435505.2	+	5	823	c.78C>A	c.(76-78)ggC>ggA	p.G26G	VRK2_ENST00000417641.2_Silent_p.G26G|VRK2_ENST00000440705.2_Silent_p.G3G|VRK2_ENST00000412104.2_Silent_p.G26G|VRK2_ENST00000340157.4_Silent_p.G26G			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	26						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ATATGGAAGGCAATCAGTGGG	0.378000													8	13					0.0285812	0.0295856	0.500413	1	0
RYR1	6261	broad.mit.edu	37	19	39013886	39013886	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:39013886G>T	ENST00000355481.4	+	69	10508	c.10377G>T	c.(10375-10377)gtG>gtT	p.V3459V	RYR1_ENST00000360985.3_Silent_p.V3459V|RYR1_ENST00000359596.3_Silent_p.V3459V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3459					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)	AGAACTTTGTGGTCCAGAATG	0.557000													256	103					3.23219e-137	5.7185e-137	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179579978	179579978	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:179579978G>A	ENST00000589042.1	-	90	26159	c.25935C>T	c.(25933-25935)ttC>ttT	p.F8645F	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.F8328F|TTN_ENST00000342992.6_Silent_p.F7401F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8328	Ig-like 69.						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)			GCTTTTTGCGGAAAATGGGTG	0.388000													13	66					0	0	0.411799	0	0
FNBP1	23048	broad.mit.edu	37	9	132662795	132662795	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:132662795G>T	ENST00000420781.1	-	14	1651	c.1433C>A	c.(1432-1434)cCa>cAa	p.P478Q	FNBP1_ENST00000443566.2_Missense_Mutation_p.P115Q|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Missense_Mutation_p.P458Q|FNBP1_ENST00000446176.2_Missense_Mutation_p.P487Q			Q96RU3	FNBP1_HUMAN	formin binding protein 1	487	Interaction with RND2 (By similarity).|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GCTGCGTGCTGGGAGCCGGCC	0.612000			T	MLL	AML								3	9					0.115264	0.117575	0.115264	1	0
FGD4	121512	broad.mit.edu	37	12	32761011	32761011	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:32761011G>A	ENST00000427716.2	+	8	1538	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N	FGD4_ENST00000381025.3_Missense_Mutation_p.D124N|FGD4_ENST00000531134.1_Missense_Mutation_p.D457N|FGD4_ENST00000534526.2_Missense_Mutation_p.D509N|FGD4_ENST00000546442.1_Missense_Mutation_p.D279N|FGD4_ENST00000525053.1_Missense_Mutation_p.D484N|FGD4_ENST00000266482.3_Missense_Mutation_p.D124N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	372	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGATTCCCTGGACTGGAATGA	0.403000													33	55					0	0	0.788014	0	0
EPHA7	2045	broad.mit.edu	37	6	93982069	93982069	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:93982069G>C	ENST00000369303.4	-	6	1580	c.1396C>G	c.(1396-1398)Cca>Gca	p.P466A		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	466	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGATGCTCTGGTTCCTGCCAG	0.443000													38	24					0	0	0.834066	0	0
XIRP1	165904	broad.mit.edu	37	3	39230226	39230226	+	Silent	SNP	C	C	G	rs141262169	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:39230226C>G	ENST00000340369.3	-	2	939	c.711G>C	c.(709-711)acG>acC	p.T237T	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.T237T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	237							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACAGGGGCTCCGTTTGGAAGA	0.617000													20	19					0	0	0.592651	0	0
C15orf38	348110	broad.mit.edu	37	15	90454018	90454018	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:90454018G>C	ENST00000357484.5	-	2	246	c.126C>G	c.(124-126)atC>atG	p.I42M	C15orf38_ENST00000460685.1_De_novo_Start_InFrame|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.I42M	NM_182616.2	NP_872422.1			chromosome 15 open reading frame 38											breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			GAGATACATCGATCAGTTCTC	0.527000													43	51					0	0	0.870114	0	0
MIR379	494328	broad.mit.edu	37	14	101488430	101488430	+	RNA	SNP	G	G	T	rs115827677	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:101488430G>T	ENST00000362218.3	+	0	65					NR_029871.1																						GAACGTAGGCGTTATGATTTC	0.517000													10	20					6.40141e-05	7.28676e-05	0.387290	1	0
POTEF	728378	broad.mit.edu	37	2	130877974	130877974	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:130877974C>T	ENST00000357462.5	-	1	208	c.115G>A	c.(115-117)Ggc>Agc	p.G39S	POTEF_ENST00000360967.5_Missense_Mutation_p.G39S|POTEF_ENST00000409914.2_Missense_Mutation_p.G39S|POTEF_ENST00000361163.4_Missense_Mutation_p.G39S			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	39						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTGCTCTTGCCGCTCTCCCTG	0.587000													25	28					0	0	0.750413	0	0
CD4	920	broad.mit.edu	37	12	6923306	6923306	+	Splice_Site	SNP	A	A	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:6923306A>C	ENST00000011653.4	+	4	472		c.e4-1		CD4_ENST00000541982.1_Splice_Site|CD4_ENST00000538827.1_Splice_Site	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule						cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				TTCTGCTCCCAGGTCCATCCA	0.512000													54	207					0	0	0.870114	0	0
ITGA1	3672	broad.mit.edu	37	5	52201708	52201708	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:52201708C>A	ENST00000282588.6	+	12	1883	c.1425C>A	c.(1423-1425)atC>atA	p.I475I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	475					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ATGGAAACATCAAAATTCTCC	0.368000													13	42					0.0167234	0.0173969	0.435327	1	0
TMCC1	23023	broad.mit.edu	37	3	129389737	129389737	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:129389737C>A	ENST00000393238.3	-	4	1287	c.947G>T	c.(946-948)cGg>cTg	p.R316L	TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000329333.5_Missense_Mutation_p.R137L|TMCC1_ENST00000426664.2_Missense_Mutation_p.R202L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	316						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTTTGGCTGCCGGGGGATCCC	0.507000													19	75					1.01871e-10	1.38383e-10	0.575678	1	0
MLH1	4292	broad.mit.edu	37	3	37067448	37067448	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:37067448G>A	ENST00000231790.2	+	12	1575	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K	MLH1_ENST00000458205.2_Silent_p.K212K|MLH1_ENST00000539477.1_Silent_p.K212K|MLH1_ENST00000435176.1_Silent_p.K355K|MLH1_ENST00000536378.1_Silent_p.K212K|MLH1_ENST00000455445.2_Silent_p.K212K	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	453	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ATACAACAAAGGGGACTTCAG	0.498000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				18	83					0	0	0.608945	0	0
RECK	8434	broad.mit.edu	37	9	36105139	36105139	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:36105139G>T	ENST00000377966.3	+	13	2001		c.e13-1			NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs							anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GGTTTTTTCAGGGCCAAGTAC	0.373000													4	42					0.00909568	0.00952692	0.150653	1	0
ASH1L	55870	broad.mit.edu	37	1	155451539	155451539	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:155451539C>G	ENST00000368346.3	-	3	1761	c.1122G>C	c.(1120-1122)aaG>aaC	p.K374N	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Missense_Mutation_p.K374N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	374					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)			AACCCAATTTCTTTCCCAAAT	0.418000													39	235					0	0	0.847076	0	0
YTHDC2	64848	broad.mit.edu	37	5	112889669	112889669	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:112889669A>C	ENST00000161863.4	+	16	2296	c.2083A>C	c.(2083-2085)Atc>Ctc	p.I695L	YTHDC2_ENST00000515883.1_Missense_Mutation_p.I695L	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	695	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGAAACCAGCATCACAGTCAA	0.289000													16	13					0	0	0.520397	0	0
SZT2	23334	broad.mit.edu	37	1	43908875	43908875	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:43908875G>A	ENST00000562955.1	+	59	8265	c.8265G>A	c.(8263-8265)atG>atA	p.M2755I	SZT2_ENST00000372442.1_Missense_Mutation_p.M1913I	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2812						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGCGCCAGATGAAGATGGAAA	0.552000													13	63					0	0	0.435327	0	0
LOC644669	644669	broad.mit.edu	37	18	15325892	15325892	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:15325892C>A	ENST00000455308.2	-	0	312					NR_027417.1																						TACCATTTACCTTCATCAGAG	0.403000													6	2					0.217242	0.219201	0.217242	1	0
FUT9	10690	broad.mit.edu	37	6	96651793	96651793	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:96651793G>T	ENST00000302103.5	+	3	1088	c.762G>T	c.(760-762)acG>acT	p.T254T		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	254					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.T254T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATTACATCACGGAAAAGCTAT	0.343000													4	12					0.000602214	0.000658709	0.184627	1	0
PDK1	5163	broad.mit.edu	37	2	173451035	173451035	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:173451035G>T	ENST00000410055.1	+	9	1075	c.975G>T	c.(973-975)ttG>ttT	p.L325F	PDK1_ENST00000392571.2_Missense_Mutation_p.L345F|PDK1_ENST00000282077.2_Missense_Mutation_p.L325F|PDK1_ENST00000543905.1_Missense_Mutation_p.L249F|PDK1_ENST00000544863.1_Missense_Mutation_p.L170F	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	325	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			GCGTTCCTTTGAGGAAAATTG	0.433000									Autosomal Dominant Polycystic Kidney Disease				10	41					3.86212e-05	4.4293e-05	0.361761	1	0
POSTN	10631	broad.mit.edu	37	13	38172838	38172838	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:38172838G>T	ENST00000379747.4	-	1	143	c.26C>A	c.(25-27)tCt>tAt	p.S9Y	POSTN_ENST00000541481.1_Missense_Mutation_p.S9Y|POSTN_ENST00000541179.1_Missense_Mutation_p.S9Y|POSTN_ENST00000379743.4_Missense_Mutation_p.S9Y|POSTN_ENST00000379749.4_Missense_Mutation_p.S9Y|POSTN_ENST00000379742.4_Missense_Mutation_p.S9Y	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	9					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CAATAGTAGAGAAAACATGGG	0.438000													10	35					0.00621372	0.00656153	0.335167	1	0
KCNJ2	3759	broad.mit.edu	37	17	68172162	68172162	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:68172162C>G	ENST00000243457.3	+	2	1365	c.982C>G	c.(982-984)Cct>Gct	p.P328A	KCNJ2_ENST00000535240.1_Missense_Mutation_p.P328A	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	328					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CCGCTATGAGCCTGTGCTCTT	0.502000													49	85					0	0	0.870114	0	0
ITIH6	347365	broad.mit.edu	37	X	54781460	54781460	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:54781460C>T	ENST00000218436.6	-	9	3221	c.3192G>A	c.(3190-3192)ggG>ggA	p.G1064G		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1064					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CTTTTGCTAACCCCACAGAAC	0.493000													4	53					0	0	0.150653	0	0
DIEXF	27042	broad.mit.edu	37	1	210014250	210014250	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:210014250G>T	ENST00000491415.2	+	8	1392	c.1335G>T	c.(1333-1335)tcG>tcT	p.S445S		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	445					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						TTTACTCCTCGGATATCCTCA	0.468000													63	60					9.65139e-37	1.66202e-36	0.870114	1	0
DCAF13	25879	broad.mit.edu	37	8	104427471	104427471	+	Missense_Mutation	SNP	A	A	C	rs138240593		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:104427471A>C	ENST00000297579.5	+	1	530	c.253A>C	c.(253-255)Aca>Cca	p.T85P		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	72					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AAGCGACTGCACAGCTAAAGA	0.667000													10	31					0	0	0.435327	0	0
EYS	346007	broad.mit.edu	37	6	64708987	64708987	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:64708987T>C	ENST00000503581.1	-	34	7352	c.6815A>G	c.(6814-6816)gAg>gGg	p.E2272G	EYS_ENST00000370621.3_Missense_Mutation_p.E2272G|EYS_ENST00000370616.2_Missense_Mutation_p.E2272G	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2272	Laminin G-like 2.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATGGGAAATCTCTGTGTCTTT	0.403000													7	5					0	0	0.307466	0	0
AMOT	154796	broad.mit.edu	37	X	112035189	112035189	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:112035189G>A	ENST00000371959.3	-	6	1796	c.1797C>T	c.(1795-1797)taC>taT	p.Y599Y	AMOT_ENST00000371962.1_Silent_p.Y367Y|AMOT_ENST00000524145.1_Silent_p.Y599Y|AMOT_ENST00000304758.1_Silent_p.Y190Y|AMOT_ENST00000371958.1_Silent_p.Y367Y	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	599					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CCTTGTCAACGTACACTTGCT	0.483000													25	154					0	0	0.706142	0	0
VCAN	1462	broad.mit.edu	37	5	82834082	82834082	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:82834082T>A	ENST00000265077.3	+	8	5825	c.5260T>A	c.(5260-5262)Ttt>Att	p.F1754I	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.F767I|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1754	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATTTTACCCTTTGAATTAGA	0.393000													16	46					0	0	0.500413	0	0
BRCA2	675	broad.mit.edu	37	13	32914805	32914805	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:32914805A>T	ENST00000544455.1	+	11	6540	c.6313A>T	c.(6313-6315)Ata>Tta	p.I2105L	BRCA2_ENST00000380152.3_Missense_Mutation_p.I2105L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2105					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)		TGTATCAAAAATACTTCCTCG	0.328000			"""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)			10	20					0	0	0.361761	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814271	106814271	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:106814271C>A	ENST00000407775.2	+	8	2211	c.1961C>A	c.(1960-1962)tCc>tAc	p.S654Y	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S385Y|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S522Y|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S522Y|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	654					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGAAGCTCTCCACCTCCAGT	0.413000													9	36					0.00621372	0.00656153	0.335167	1	0
AK7	122481	broad.mit.edu	37	14	96944912	96944912	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:96944912G>T	ENST00000267584.4	+	15	1710	c.1666G>T	c.(1666-1668)Gct>Tct	p.A556S		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	556					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATTCCTCCGGGCTCTGAGCAA	0.473000													26	78					8.88839e-20	1.40656e-19	0.750413	1	0
ZFHX4	79776	broad.mit.edu	37	8	77761891	77761891	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:77761891G>T	ENST00000521891.2	+	8	4237	c.3789G>T	c.(3787-3789)ctG>ctT	p.L1263L	ZFHX4_ENST00000050961.6_Silent_p.L1218L|ZFHX4_ENST00000455469.2_Silent_p.L1218L|ZFHX4_ENST00000518282.1_Silent_p.L1237L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1218						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCTCCAACTGCATCTGACGC	0.488000										HNSCC(33;0.089)			19	60					4.96729e-08	6.33263e-08	0.575678	1	0
TBL2	26608	broad.mit.edu	37	7	72988716	72988716	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:72988716C>G	ENST00000305632.5	-	2	499	c.258G>C	c.(256-258)ctG>ctC	p.L86L	TBL2_ENST00000432538.1_Silent_p.L50L|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Silent_p.L86L	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	86										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACGTACCTTCAGAGCTGCAG	0.542000													2	7					0	0	0.115264	0	0
BTBD11	121551	broad.mit.edu	37	12	107713142	107713142	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:107713142G>C	ENST00000280758.5	+	1	953	c.425G>C	c.(424-426)cGc>cCc	p.R142P	BTBD11_ENST00000490090.2_Missense_Mutation_p.R142P|BTBD11_ENST00000420571.2_Missense_Mutation_p.R142P	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	142						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCGCTGGTGCGCATAGCCAAA	0.711000													4	0					0	0	0.184627	0	0
C1orf173	127254	broad.mit.edu	37	1	75114991	75114991	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:75114991G>T	ENST00000326665.5	-	2	250	c.32C>A	c.(31-33)gCt>gAt	p.A11D		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	11										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATTATATGCAGCAAGTAACCT	0.348000													18	80					7.45023e-12	1.04241e-11	0.592651	1	0
EPHA5	2044	broad.mit.edu	37	4	66467531	66467531	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:66467531G>T	ENST00000273854.3	-	3	1338	c.738C>A	c.(736-738)acC>acA	p.T246T	EPHA5_ENST00000511294.1_Silent_p.T246T|EPHA5_ENST00000432638.2_Silent_p.T246T|EPHA5_ENST00000354839.4_Silent_p.T246T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	246	Cys-rich.				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						CTCCAGTGATGGTGTCAGGGA	0.488000										TSP Lung(17;0.13)			10	33					0.00010058	0.000113414	0.411799	1	0
NTRK3	4916	broad.mit.edu	37	15	88483884	88483884	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:88483884C>A	ENST00000394480.1	-	15	2007	c.1686G>T	c.(1684-1686)ccG>ccT	p.P562P	NTRK3_ENST00000360948.2_Silent_p.P562P|NTRK3_ENST00000542733.2_Silent_p.P464P|NTRK3_ENST00000357724.2_Silent_p.P554P|NTRK3_ENST00000355254.2_Silent_p.P562P|NTRK3_ENST00000558676.1_Silent_p.P554P|NTRK3_ENST00000557856.1_Silent_p.P554P	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	562	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTCCTTGGTCGGGCTGAGGT	0.587000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			44	42					2.29192e-23	3.73605e-23	0.870114	1	0
HMCN1	83872	broad.mit.edu	37	1	186086677	186086677	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:186086677C>A	ENST00000271588.4	+	77	11999	c.11770C>A	c.(11770-11772)Cca>Aca	p.P3924T	HMCN1_ENST00000367492.2_Missense_Mutation_p.P3924T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3924	Ig-like C2-type 38.				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						TTCGGGAGTTCCATTTCCCTC	0.448000													15	69					1.15088e-07	1.45506e-07	0.500413	1	0
MAP4K1	11184	broad.mit.edu	37	19	39106849	39106849	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:39106849T>A	ENST00000591517.1	-	4	327	c.299A>T	c.(298-300)cAg>cTg	p.Q100L	MAP4K1_ENST00000586296.1_Missense_Mutation_p.Q100L|MAP4K1_ENST00000589130.1_Missense_Mutation_p.Q96L|MAP4K1_ENST00000396857.2_Missense_Mutation_p.Q100L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	100	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTAGATGTCCTGGAGAGAACC	0.488000													33	16					0	0	0.812448	0	0
CNGB3	54714	broad.mit.edu	37	8	87738838	87738838	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:87738838C>G	ENST00000320005.5	-	3	306	c.259G>C	c.(259-261)Gac>Cac	p.D87H	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	87					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTTGAGGGTCAGGGTTTGTG	0.423000													86	100					0	0	0.870114	0	0
HGF	3082	broad.mit.edu	37	7	81332038	81332038	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:81332038A>G	ENST00000222390.5	-	18	2272	c.2046T>C	c.(2044-2046)caT>caC	p.H682H	HGF_ENST00000457544.2_Silent_p.H677H	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	682	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTCTCATTTTATGTTGCTCAC	0.373000													14	70					0	0	0.479597	0	0
KIT	3815	broad.mit.edu	37	4	55570038	55570038	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:55570038C>T	ENST00000288135.5	+	5	1002	c.905C>T	c.(904-906)aCa>aTa	p.T302I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	302	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAAATGTCACAACAACCTTG	0.348000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				8	44					0	0	0.307466	0	0
ERC2	26059	broad.mit.edu	37	3	56183085	56183085	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:56183085C>T	ENST00000288221.6	-	5	1480	c.1225G>A	c.(1225-1227)Gtg>Atg	p.V409M		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	409						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTGTTCAGCACACCATTGGCT	0.398000													7	11					0	0	0.248553	0	0
AMMECR1	9949	broad.mit.edu	37	X	109441769	109441769	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:109441769C>G	ENST00000262844.5	-	6	1148	c.981G>C	c.(979-981)ccG>ccC	p.P327P	AMMECR1_ENST00000372057.1_Silent_p.P204P|AMMECR1_ENST00000372059.2_Silent_p.P290P	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	327										large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGTTGTATGGCGGAAGGGGAT	0.502000													7	68					0	0	0.335167	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29230486	29230486	+	RNA	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:29230486G>T	ENST00000441381.1	+	0	79																											TTCCTTAGTGGGATGGGTTCA	0.393000													39	27					8.69298e-16	1.30901e-15	0.827153	1	0
ROBO2	6092	broad.mit.edu	37	3	77666736	77666736	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:77666736G>T	ENST00000461745.1	+	22	4266	c.3366G>T	c.(3364-3366)ctG>ctT	p.L1122L	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Silent_p.L1138L|ROBO2_ENST00000332191.8_Silent_p.L1122L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1122					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGATGAACTGGAAGAAGATG	0.458000													24	20					1.1804e-14	1.73393e-14	0.667858	1	0
SLIT2	9353	broad.mit.edu	37	4	20525756	20525756	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:20525756A>G	ENST00000504154.1	+	14	1646	c.1394A>G	c.(1393-1395)aAc>aGc	p.N465S	SLIT2_ENST00000273739.5_Missense_Mutation_p.N469S|SLIT2_ENST00000503823.1_Missense_Mutation_p.N465S|SLIT2_ENST00000503837.1_Missense_Mutation_p.N469S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	465	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGCCTGGCAAACAAAAGAATT	0.473000													47	90					0	0	0.870114	0	0
NLRP12	91662	broad.mit.edu	37	19	54313961	54313961	+	Silent	SNP	G	G	T	rs140585311	byFrequency	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:54313961G>T	ENST00000324134.6	-	3	1120	c.952C>A	c.(952-954)Cgg>Agg	p.R318R	NLRP12_ENST00000391772.1_Silent_p.R318R|NLRP12_ENST00000351894.4_Silent_p.R318R|NLRP12_ENST00000535162.1_Silent_p.R318R|NLRP12_ENST00000345770.5_Silent_p.R318R|NLRP12_ENST00000391773.1_Silent_p.R318R|NLRP12_ENST00000391775.3_Silent_p.R318R|NLRP12_ENST00000354278.3_Silent_p.R318R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	318	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCGTGGGCCGTTTCTCCTCC	0.562000													26	5					7.92952e-12	1.10671e-11	0.667858	1	0
CRMP1	1400	broad.mit.edu	37	4	5843112	5843112	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:5843112C>T	ENST00000324989.7	-	8	1164	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	CRMP1_ENST00000397890.2_Missense_Mutation_p.R245Q|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.R243Q	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	245				Missing (in Ref. 6; AAK55500).	axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GCAGTTGATCCGGCCCGCAAT	0.607000													43	129					0	0	0.870114	0	0
TMEM181	57583	broad.mit.edu	37	6	159006389	159006389	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:159006389C>G	ENST00000367090.3	+	5	735	c.724C>G	c.(724-726)Caa>Gaa	p.Q242E		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	242					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TGGTGTAGCTCAAGATGGAAC	0.453000													8	23					0	0	0.278610	0	0
AMER2	219287	broad.mit.edu	37	13	25744616	25744616	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:25744616C>A	ENST00000357816.2	-	3	1260	c.785G>T	c.(784-786)tGt>tTt	p.C262F	AMER2_ENST00000515384.1_Missense_Mutation_p.C381F|AMER2_ENST00000381853.3_Missense_Mutation_p.C262F					APC membrane recruitment protein 2																		AATATCTCCACAGCCTGTAAG	0.532000													4	17					0.000602214	0.000658709	0.184627	1	0
NSDHL	50814	broad.mit.edu	37	X	152014961	152014961	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:152014961G>T	ENST00000370274.3	+	2	287	c.93G>T	c.(91-93)aaG>aaT	p.K31N	NSDHL_ENST00000440023.1_Missense_Mutation_p.K31N	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	31					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	ACATAGAAAAGGTTAACCAGA	0.423000													65	58					4.13886e-29	6.94915e-29	0.870114	1	0
TFAP2B	7021	broad.mit.edu	37	6	50810880	50810880	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:50810880C>T	ENST00000263046.4	+	8	1351	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	TFAP2B_ENST00000393655.3_Silent_p.I386I			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	386				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CCAGCCCCATCCTGGAGCCGG	0.637000													24	48					0	0	0.864702	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185404893	185404893	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:185404893C>A	ENST00000382199.2	-	7	859	c.764G>T	c.(763-765)tGc>tTc	p.C255F	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.C261F|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.C198F|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.C255F|IGF2BP2_ENST00000494906.1_5'UTR	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	255	KH 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AATCATGCGGCATGCTTCAGA	0.458000													27	130					1.08312e-15	1.62807e-15	0.740014	1	0
FCRL5	83416	broad.mit.edu	37	1	157497520	157497520	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:157497520C>A	ENST00000361835.3	-	9	2004	c.1847G>T	c.(1846-1848)gGa>gTa	p.G616V	FCRL5_ENST00000368190.3_Missense_Mutation_p.G616V|FCRL5_ENST00000368191.3_Missense_Mutation_p.G531V|FCRL5_ENST00000356953.4_Missense_Mutation_p.G616V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	616	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAAGCTTCTCCTCCAGAGGG	0.537000													166	175					1.67521e-82	2.96071e-82	0.870114	1	0
TBC1D1	23216	broad.mit.edu	37	4	38117331	38117331	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:38117331G>T	ENST00000261439.4	+	16	2913	c.2557_splice	c.e16-1	p.G853_splice	TBC1D1_ENST00000508802.1_Splice_Site_p.G947_splice|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	853	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTTTTCACAGGGCGAACCTTT	0.388000													47	95					1.00221e-16	1.53954e-16	0.870114	1	0
FAM35A	54537	broad.mit.edu	37	10	88911685	88911685	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:88911685G>A	ENST00000298786.4	+	3	688	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	FAM35A_ENST00000298784.1_Missense_Mutation_p.E192K			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	192										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TATAGGGCCTGAAGTGGTACA	0.373000													5	34					0	0	0.184627	0	0
CADPS	8618	broad.mit.edu	37	3	62860688	62860688	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:62860688G>T	ENST00000383710.4	-	1	366	c.17C>A	c.(16-18)tCc>tAc	p.S6Y	CADPS_ENST00000490353.2_Missense_Mutation_p.S6Y|CADPS_ENST00000283269.9_Missense_Mutation_p.S6Y|CADPS_ENST00000357948.3_Missense_Mutation_p.S6Y	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	6					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTCTTCGCTGGACGAAGGGTC	0.692000													3	2					0.115264	0.117575	0.115264	1	0
BGN	633	broad.mit.edu	37	X	152770102	152770102	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:152770102T>G	ENST00000331595.4	+	2	199	c.13T>G	c.(13-15)Tgg>Ggg	p.W5G	BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_5'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	5						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCCCCTGTGGCGCCTCGT	0.637000													4	8					0	0	0.411799	0	0
PLCE1	51196	broad.mit.edu	37	10	96064359	96064359	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:96064359A>G	ENST00000260766.3	+	25	6213	c.5579A>G	c.(5578-5580)gAa>gGa	p.E1860G	PLCE1_ENST00000371380.2_Missense_Mutation_p.E1860G|PLCE1_ENST00000371375.1_Missense_Mutation_p.E1552G|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1552G	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1860	C2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCTCCACTAGAAAGAGATCTG	0.448000													4	68					0	0	0.150653	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998546	27998546	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:27998546G>T	ENST00000441525.1	-	1	1020	c.906C>A	c.(904-906)ttC>ttA	p.F302L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	302										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTGAAGTGAGGAACTTATAAG	0.473000													30	41					1.61788e-16	2.46947e-16	0.760397	1	0
GYS1	2997	broad.mit.edu	37	19	49477529	49477529	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:49477529A>G	ENST00000323798.3	-	12	1686	c.1490T>C	c.(1489-1491)gTc>gCc	p.V497A	GYS1_ENST00000263276.6_Missense_Mutation_p.V433A|GYS1_ENST00000541188.1_Missense_Mutation_p.V417A|GYS1_ENST00000544287.1_Missense_Mutation_p.V130A	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	497					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		ACAGCCACGGACAAACTCCTC	0.572000													3	7					0	0	0.184627	0	0
MRPL38	64978	broad.mit.edu	37	17	73897091	73897091	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:73897091G>A	ENST00000309352.3	-	6	1219	c.682C>T	c.(682-684)Cca>Tca	p.P228S	MRPL38_ENST00000409963.3_Missense_Mutation_p.P44S	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	228						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCAGCATCTGGCTCCAGCAGG	0.647000													4	2					0	0	0.184627	0	0
KNOP1	400506	broad.mit.edu	37	16	19725533	19725533	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:19725533C>T	ENST00000219837.7	-	2	903	c.825G>A	c.(823-825)aaG>aaA	p.K275K	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		GCTGCTCTACCTTCTTTTTGG	0.468000													12	22					0	0	0.411799	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360984	105360984	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:105360984G>C	ENST00000297581.2	+	2	253	c.204G>C	c.(202-204)acG>acC	p.T68T	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Silent_p.T68T	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	68					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.T68T(1)									GGATTATCACGTGTGTTCTGC	0.507000													23	24					0	0	0.706142	0	0
AC010731.4	0	broad.mit.edu	37	2	207509173	207509173	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:207509173C>A	ENST00000543490.1	+	0	388																											CTGTTTCAGGCTTCTGGGATT	0.488000													12	16					3.07112e-06	3.67265e-06	0.387290	1	0
IL1RL1	9173	broad.mit.edu	37	2	102957235	102957235	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:102957235A>T	ENST00000311734.2	+	5	896	c.557A>T	c.(556-558)aAt>aTt	p.N186I	IL1RL1_ENST00000409584.1_Missense_Mutation_p.N186I|IL1RL1_ENST00000233954.1_Missense_Mutation_p.N186I|IL1RL1_ENST00000393393.3_Missense_Mutation_p.N186I|IL1RL1_ENST00000404917.2_Missense_Mutation_p.N69I			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	186	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTTATACACAATGAAAATGGA	0.428000													20	94					0	0	0.592651	0	0
TTN	7273	broad.mit.edu	37	2	179605909	179605909	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:179605909C>A	ENST00000589042.1	-	48	12275	c.12051G>T	c.(12049-12051)ttG>ttT	p.L4017F	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L3779F|TTN_ENST00000591111.1_Missense_Mutation_p.L3700F|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.L3846F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L3654F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3700							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)			TGGACTCACCCAACATATTCT	0.488000													52	52					7.34454e-26	1.21134e-25	0.870114	1	0
ZNF841	284371	broad.mit.edu	37	19	52570211	52570211	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:52570211C>T	ENST00000389534.4	-	7	1383	c.924G>A	c.(922-924)caG>caA	p.Q308Q	ZNF841_ENST00000426391.2_Silent_p.Q192Q|ZNF841_ENST00000359973.2_Silent_p.Q192Q|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Silent_p.Q308Q	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TATGGACTATCTGATGTACTG	0.408000													11	14					0	0	0.479597	0	0
TACR3	6870	broad.mit.edu	37	4	104640351	104640351	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:104640351T>A	ENST00000304883.2	-	1	622	c.482A>T	c.(481-483)cAg>cTg	p.Q161L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	161						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AAAGAAGTTCTGGAAGCGGCA	0.547000													11	39					0	0	0.411799	0	0
MAP3K7	6885	broad.mit.edu	37	6	91260258	91260258	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:91260258C>A	ENST00000369329.3	-	9	1039	c.878G>T	c.(877-879)gGa>gTa	p.G293V	MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.G293V|MAP3K7_ENST00000369325.3_Missense_Mutation_p.G293V|MAP3K7_ENST00000369327.3_Missense_Mutation_p.G293V	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	293					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTCATCTGCTCCTGGAAAGTA	0.333000													4	18					0.00024832	0.000275565	0.150653	1	0
BAZ2B	29994	broad.mit.edu	37	2	160287560	160287560	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:160287560T>C	ENST00000392783.2	-	10	2503	c.2008A>G	c.(2008-2010)Atg>Gtg	p.M670V	BAZ2B_ENST00000355831.2_Missense_Mutation_p.M670V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.M668V|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	670					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTCAGTTTCATTGAAGTTTTC	0.403000													13	38					0	0	0.411799	0	0
SOAT2	8435	broad.mit.edu	37	12	53514577	53514577	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:53514577C>T	ENST00000301466.3	+	11	1107	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	349					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						CAGGCATCTTCATGCTGCTGC	0.592000													6	30					0	0	0.248553	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554119	140554119	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:140554119G>T	ENST00000231137.3	+	1	1877	c.1703G>T	c.(1702-1704)aGc>aTc	p.S568I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		568	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCAGAACAGCTCCGCGCCC	0.731000													7	7					0.000157383	0.000176164	0.278610	1	0
APOB	338	broad.mit.edu	37	2	21241910	21241910	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:21241910C>G	ENST00000233242.1	-	20	3202	c.3075G>C	c.(3073-3075)gaG>gaC	p.E1025D		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1025					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGGCTCTGTCCTCTCTCTGGA	0.468000													39	44					0	0	0.834066	0	0
RYR3	6263	broad.mit.edu	37	15	33961613	33961613	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:33961613G>A	ENST00000389232.4	+	37	5748	c.5678G>A	c.(5677-5679)cGg>cAg	p.R1893Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R1893Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1893	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGGAGATTCGGGAGGAGCTG	0.453000													10	31					0	0	0.361761	0	0
UTP6	55813	broad.mit.edu	37	17	30190500	30190500	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:30190500G>A	ENST00000261708.4	-	19	1809	c.1672C>T	c.(1672-1674)Cac>Tac	p.H558Y		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	558					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CCAAGGGGGTGGTTCAATTCT	0.368000													10	48					0	0	0.361761	0	0
KRT71	112802	broad.mit.edu	37	12	52943828	52943828	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:52943828T>C	ENST00000267119.5	-	2	710	c.641A>G	c.(640-642)gAg>gGg	p.E214G		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	214	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTTGTAGTCCTCCACTACGTC	0.597000													35	50					0	0	0.819951	0	0
KIF2B	84643	broad.mit.edu	37	17	51901441	51901441	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:51901441C>A	ENST00000268919.4	+	1	1203	c.1047C>A	c.(1045-1047)gaC>gaA	p.D349E		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	349	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAAGCTGGACCTCAAAGTCT	0.453000													9	58					2.52707e-12	3.5685e-12	0.335167	1	0
ERCC4	2072	broad.mit.edu	37	16	14042044	14042044	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:14042044G>T	ENST00000311895.7	+	11	2600	c.2591G>T	c.(2590-2592)cGc>cTc	p.R864L		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	864	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AAAAACTGCCGCTCCTTGATG	0.473000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				20	29					1.01871e-10	1.38383e-10	0.575678	1	0
LAMP5	24141	broad.mit.edu	37	20	9496154	9496154	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:9496154C>A	ENST00000246070.2	+	2	611	c.119C>A	c.(118-120)tCc>tAc	p.S40Y	LAMP5_ENST00000427562.2_Missense_Mutation_p.S40Y	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	40						integral to membrane											TCAGGCCTTTCCACTAACCCT	0.443000													8	34					3.09899e-07	3.85708e-07	0.307466	1	0
BTN2A2	10385	broad.mit.edu	37	6	26390243	26390243	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:26390243G>T	ENST00000356709.4	+	5	846	c.735G>T	c.(733-735)atG>atT	p.M245I	BTN2A2_ENST00000416795.2_Missense_Mutation_p.M245I|BTN2A2_ENST00000469230.1_Missense_Mutation_p.M245I|BTN2A2_ENST00000352867.2_Missense_Mutation_p.M129I|BTN2A2_ENST00000432533.2_Missense_Mutation_p.M151I|BTN2A2_ENST00000482536.1_Missense_Mutation_p.M35I	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	245					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						AATCCTTTATGCCCAGCGCAT	0.498000													64	84					5.45122e-27	9.02624e-27	0.870114	1	0
LRRC7	57554	broad.mit.edu	37	1	70504333	70504333	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:70504333T>A	ENST00000310961.5	+	22	3145	c.2727T>A	c.(2725-2727)agT>agA	p.S909R	LRRC7_ENST00000035383.5_Missense_Mutation_p.S904R|LRRC7_ENST00000415775.2_Missense_Mutation_p.S188R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	904						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCAACAGGAGTCTTAGTAATG	0.418000													12	40					0	0	0.435327	0	0
LINC00969	440993	broad.mit.edu	37	3	195410627	195410627	+	RNA	SNP	A	A	G	rs6583272	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:195410627A>G	ENST00000445430.1	+	0	1824																											CCTCAGGTGCAGATTGATGAG	0.473000													3	29					0	0	0.217242	0	0
DDX26B	203522	broad.mit.edu	37	X	134680395	134680395	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:134680395G>T	ENST00000370752.4	+	4	763		c.e4+1		DDX26B_ENST00000493637.1_Splice_Site	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B											large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGAAGAGGTGAGatttta	0.328000													5	19					5.9392e-07	7.31615e-07	0.217242	1	0
ANKFN1	162282	broad.mit.edu	37	17	54520214	54520214	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:54520214A>G	ENST00000566473.2	+	9	1028	c.1028A>G	c.(1027-1029)tAt>tGt	p.Y343C	ANKFN1_ENST00000318698.2_Missense_Mutation_p.Y343C			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	343	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GGCCAACAGTATTTTGTTCAA	0.418000													58	89					0	0	0.870114	0	0
LAMA1	284217	broad.mit.edu	37	18	7013956	7013956	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:7013956C>A	ENST00000389658.3	-	23	3314	c.3221G>T	c.(3220-3222)tGc>tTc	p.C1074F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1074	Laminin EGF-like 12.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACTGATCGCAGGCCCGGCC	0.592000													18	14					1.64113e-05	1.92286e-05	0.592651	1	0
TENM1	10178	broad.mit.edu	37	X	123680931	123680931	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:123680931G>T	ENST00000422452.2	-	15	2507	c.2444C>A	c.(2443-2445)aCc>aAc	p.T815N	TENM1_ENST00000371130.3_Missense_Mutation_p.T815N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CACACAGTCGGTTAAACCATC	0.353000													16	41					4.7546e-09	6.21727e-09	0.500413	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77913599	77913599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:77913599C>A	ENST00000321110.1	-	2	614	c.319G>T	c.(319-321)Gag>Tag	p.E107*		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	107	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCTGGGGCCTCCTGGAGTTCC	0.637000													4	9					0.014758	0.0153809	0.184627	1	0
CDX4	1046	broad.mit.edu	37	X	72667280	72667280	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:72667280C>A	ENST00000373514.2	+	1	191	c.191C>A	c.(190-192)cCt>cAt	p.P64H		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	64						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGCATGGATCCTCACTGGCCG	0.622000													6	32					0.00116845	0.00126487	0.217242	1	0
DSE	29940	broad.mit.edu	37	6	116752188	116752188	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:116752188A>T	ENST00000331677.3	+	5	1186	c.742A>T	c.(742-744)Agg>Tgg	p.R248W	DSE_ENST00000452085.3_Missense_Mutation_p.R248W|DSE_ENST00000359564.2_Missense_Mutation_p.R248W|DSE_ENST00000537543.1_Missense_Mutation_p.R267W			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	248					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GGTCTTGCTCAGGGAGGTGAC	0.463000													7	17					0	0	0.278610	0	0
RSBN1L	222194	broad.mit.edu	37	7	77398052	77398052	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:77398052G>T	ENST00000334955.7	+	5	1584	c.1557G>T	c.(1555-1557)atG>atT	p.M519I	RSBN1L_ENST00000445288.1_Missense_Mutation_p.M249I	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	519						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCCCATCATGTGGGTTCGTC	0.413000													9	27					2.74318e-10	3.69054e-10	0.335167	1	0
REL	5966	broad.mit.edu	37	2	61128171	61128171	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:61128171A>T	ENST00000295025.7	+	4	667	c.347A>T	c.(346-348)aAa>aTa	p.K116I	REL_ENST00000394479.3_Missense_Mutation_p.K116I	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	116	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AAAGAAGTAAAAGAAGCTATT	0.284000			A		Hodgkin Lymphoma								4	16					0	0	0.184627	0	0
KCNA5	3741	broad.mit.edu	37	12	5154951	5154951	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:5154951G>T	ENST00000252321.3	+	1	1867	c.1638G>T	c.(1636-1638)ccG>ccT	p.P546P		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	546						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCCAGGGGCCGGGGCTGGACA	0.627000													12	7					3.27435e-08	4.19347e-08	0.457914	1	0
HSPA4L	22824	broad.mit.edu	37	4	128751910	128751910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:128751910C>T	ENST00000296464.3	+	18	2695	c.2284C>T	c.(2284-2286)Caa>Taa	p.Q762*	HSPA4L_ENST00000505726.1_Nonsense_Mutation_p.Q736*|HSPA4L_ENST00000439123.2_Nonsense_Mutation_p.Q793*|HSPA4L_ENST00000508776.1_Nonsense_Mutation_p.Q762*	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	762					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AAGTCTCACTCAAGATCCTGT	0.328000													8	23					0	0	0.307466	0	0
ITPKB	3707	broad.mit.edu	37	1	226923986	226923986	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:226923986T>A	ENST00000429204.1	-	2	1501	c.1174A>T	c.(1174-1176)Agg>Tgg	p.R392W	ITPKB_ENST00000272117.3_Missense_Mutation_p.R392W|ITPKB_ENST00000366784.1_Missense_Mutation_p.R392W	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	392							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)				TCCTCTGGCCTTTTGCCCACT	0.647000													8	13					0	0	0.335167	0	0
ASAP1	50807	broad.mit.edu	37	8	131130908	131130908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:131130908C>A	ENST00000357668.1	-	18	1648	c.1621G>T	c.(1621-1623)Gaa>Taa	p.E541*	ASAP1_ENST00000518721.1_Nonsense_Mutation_p.E541*			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	541	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GTGATATATTCTTTTCGTACA	0.328000													6	19					0.00198382	0.00212561	0.248553	1	0
CAPN5	726	broad.mit.edu	37	11	76830158	76830158	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:76830158G>T	ENST00000278559.3	+	9	1439	c.1250G>T	c.(1249-1251)gGc>gTc	p.G417V	CAPN5_ENST00000456580.2_Missense_Mutation_p.G457V|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.G417V	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	417	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGCCGGGAGGGCAAGGGTGAG	0.602000													5	2					0.00116845	0.00126487	0.217242	1	0
TBC1D9B	23061	broad.mit.edu	37	5	179320367	179320367	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:179320367G>A	ENST00000356834.3	-	5	715	c.678C>T	c.(676-678)ctC>ctT	p.L226L	TBC1D9B_ENST00000355235.3_Silent_p.L226L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	226						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAGAAGAAGAGCTCCTGGT	0.612000													16	19					0	0	0.539581	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68188307	68188307	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:68188307T>A	ENST00000262215.3	-	9	1630	c.1241A>T	c.(1240-1242)aAg>aTg	p.K414M		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	414					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			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)			GTGGGAAAACTTAGCACCAGG	0.383000													7	21					0	0	0.248553	0	0
KIF13B	23303	broad.mit.edu	37	8	29006279	29006279	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:29006279T>C	ENST00000524189.1	-	16	1666	c.1628A>G	c.(1627-1629)aAt>aGt	p.N543S	KIF13B_ENST00000521515.1_Missense_Mutation_p.N543S	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	543					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTTAGGCAAATTGAGTCTTGG	0.403000													23	28					0	0	0.667858	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123126143	123126143	+	Silent	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:123126143A>T	ENST00000368440.4	+	6	1005	c.828A>T	c.(826-828)atA>atT	p.I276I	SMPDL3A_ENST00000539041.1_Silent_p.I145I	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	276					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AGAAATTGATAGATATTTTTC	0.348000													31	12					0	0	0.740014	0	0
DNAH9	1770	broad.mit.edu	37	17	11550479	11550479	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:11550479A>G	ENST00000262442.3	+	12	2129	c.2061A>G	c.(2059-2061)ccA>ccG	p.P687P	DNAH9_ENST00000454412.2_Silent_p.P687P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	687	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACGTGACCCAGAGACGAAGG	0.448000													31	43					0	0	0.760397	0	0
RNASEH2B	79621	broad.mit.edu	37	13	51501614	51501614	+	Splice_Site	SNP	G	G	T	rs75186889		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:51501614G>T	ENST00000336617.3	+	2	535	c.136_splice	c.e2+1	p.G46_splice	RNASEH2B_ENST00000422660.1_Splice_Site_p.G46_splice	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	46					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		CCCCTGTTCAGGTAAGTTCTC	0.308000													27	12					7.11191e-15	1.05113e-14	0.769981	1	0
CSMD3	114788	broad.mit.edu	37	8	113249507	113249507	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:113249507G>T	ENST00000297405.5	-	67	10783	c.10539C>A	c.(10537-10539)ccC>ccA	p.P3513P	CSMD3_ENST00000343508.3_Silent_p.P3473P|CSMD3_ENST00000352409.3_Silent_p.P3443P|CSMD3_ENST00000455883.2_Silent_p.P3344P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3513						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						TTAAGGTCATGGGTTGTTTCC	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			35	32					2.20474e-14	3.21891e-14	0.788014	1	0
PDHA1	5160	broad.mit.edu	37	X	19372640	19372640	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:19372640G>T	ENST00000379806.5	+	7	801	c.656G>T	c.(655-657)tGt>tTt	p.C219F	PDHA1_ENST00000540249.1_Intron|PDHA1_ENST00000545074.1_Missense_Mutation_p.C188F|PDHA1_ENST00000422285.2_Missense_Mutation_p.C181F	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	181					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GCTCTAGCCTGTAAGTATAAT	0.443000													27	41					1.30897e-18	2.04824e-18	0.740014	1	0
SETX	23064	broad.mit.edu	37	9	135139986	135139986	+	Silent	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:135139986T>A	ENST00000372169.2	-	27	7943	c.7761A>T	c.(7759-7761)ccA>ccT	p.P2587P	SETX_ENST00000393220.1_Silent_p.P2525P|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000224140.5_Silent_p.P2558P			Q7Z333	SETX_HUMAN	senataxin	2558			I -> V (in dbSNP:rs1056899).		cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCGAGGGTTGTGGATCCCAAA	0.577000													18	23					0	0	0.575678	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359446	70359446	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:70359446C>G	ENST00000305107.6	-	2	881	c.835G>C	c.(835-837)Gga>Cga	p.G279R	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.G143R|UGT2B4_ENST00000512583.1_Missense_Mutation_p.G279R	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	279					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGTGGAGTCCTCCAACGAAC	0.403000													21	101					0	0	0.639603	0	0
CD93	22918	broad.mit.edu	37	20	23066137	23066137	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:23066137G>T	ENST00000246006.4	-	1	840	c.693C>A	c.(691-693)gaC>gaA	p.D231E		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	231					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCTGAGTCTCGTCCTTGTCAC	0.597000													12	34					2.23348e-06	2.68819e-06	0.500413	1	0
OPCML	4978	broad.mit.edu	37	11	132306119	132306119	+	Silent	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:132306119A>T	ENST00000331898.7	-	6	1376	c.798T>A	c.(796-798)ggT>ggA	p.G266G	OPCML_ENST00000374778.4_Silent_p.G225G|OPCML_ENST00000524381.1_Silent_p.G259G|OPCML_ENST00000541867.1_Silent_p.G266G|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	266	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TTCCATCCAGACCAGTGGCTA	0.443000													29	41					0	0	0.750413	0	0
GRID2	2895	broad.mit.edu	37	4	93511345	93511345	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:93511345T>A	ENST00000282020.4	+	2	410	c.152T>A	c.(151-153)cTt>cAt	p.L51H	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.L51H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	51					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTTGGTGACCTTAACCAGAAT	0.388000													17	41					0	0	0.575678	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205630	36205630	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:36205630C>A	ENST00000392197.2	+	3	420	c.102C>A	c.(100-102)acC>acA	p.T34T	ZBTB32_ENST00000262630.3_Silent_p.T34T			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	34	BTB.				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCTGATCACCGTAGGGAGCC	0.652000													16	57					2.94398e-08	3.7848e-08	0.557998	1	0
TBC1D5	9779	broad.mit.edu	37	3	17255725	17255725	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:17255725T>A	ENST00000253692.7	-	18	3390	c.1726A>T	c.(1726-1728)Agc>Tgc	p.S576C	TBC1D5_ENST00000429924.2_Missense_Mutation_p.S550C|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S598C|TBC1D5_ENST00000429383.4_Missense_Mutation_p.S576C	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	576						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ATAGTTTTGCTGTGTGAGCGA	0.398000													6	13					0	0	0.307466	0	0
MTOR	2475	broad.mit.edu	37	1	11270872	11270872	+	Splice_Site	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:11270872T>A	ENST00000361445.4	-	24	3729	c.3654_splice	c.e24+1	p.K1218_splice		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1218					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ATAGTTCACCTTGACAATTCT	0.388000													12	29					0	0	0.411799	0	0
TRIM29	23650	broad.mit.edu	37	11	119998058	119998058	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:119998058C>A	ENST00000341846.5	-	3	1541	c.1120G>T	c.(1120-1122)Gtg>Ttg	p.V374L	TRIM29_ENST00000541857.1_Missense_Mutation_p.V107L|TRIM29_ENST00000529044.1_Missense_Mutation_p.V113L	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	374					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)		AGAAACAACACAGAGTCGCTG	0.527000													5	4					0.000274275	0.000302767	0.307466	1	0
PCDH9	5101	broad.mit.edu	37	13	67801777	67801777	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:67801777G>A	ENST00000544246.1	-	2	1487	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S	PCDH9_ENST00000377861.3_Missense_Mutation_p.P266S|PCDH9_ENST00000377865.2_Missense_Mutation_p.P266S|PCDH9_ENST00000328454.5_Missense_Mutation_p.P266S|PCDH9_ENST00000456367.1_Missense_Mutation_p.P266S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	266	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTACCTACGGGAGCATTCTCT	0.488000													32	23					0	0	0.740014	0	0
FSCB	84075	broad.mit.edu	37	14	44974965	44974965	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:44974965G>T	ENST00000340446.4	-	1	1517	c.1226C>A	c.(1225-1227)cCa>cAa	p.P409Q		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	409	Pro-rich.		P -> S (in dbSNP:rs1959379).			cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TACTTTAGCTGGGGCCTCTTC	0.517000													11	95					2.27111e-07	2.84567e-07	0.411799	1	0
TTN	7273	broad.mit.edu	37	2	179632585	179632585	+	Silent	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:179632585A>T	ENST00000589042.1	-	40	9596	c.9372T>A	c.(9370-9372)gcT>gcA	p.A3124A	TTN_ENST00000360870.5_Silent_p.A3124A|TTN_ENST00000359218.5_Silent_p.A3078A|TTN_ENST00000591111.1_Silent_p.A3124A|TTN_ENST00000342992.6_Silent_p.A3124A|TTN_ENST00000342175.6_Silent_p.A3078A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.A3078A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2861	Ig-like 18.						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)			TGTACTTCCCAGCATCAGACA	0.453000													10	24					0	0	0.479597	0	0
TGM4	7047	broad.mit.edu	37	3	44951712	44951712	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:44951712C>A	ENST00000296125.4	+	11	1526	c.1458C>A	c.(1456-1458)aaC>aaA	p.N486K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	486					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TGCTGGGAAACTCTGTTAATT	0.453000													16	23					9.16793e-09	1.18773e-08	0.520397	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20488869	20488869	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:20488869C>A	ENST00000555186.1	+	0	352					NR_038836.1																						TGGGTATAACCGTGCTGTGGA	0.438000													13	63					0.00136819	0.0014792	0.411799	1	0
AKR1B1	231	broad.mit.edu	37	7	134136430	134136430	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:134136430C>T	ENST00000285930.4	-	2	221	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	48					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	TTCTGGTACACATGGGCACAG	0.577000													13	20					0	0	0.435327	0	0
C20orf194	25943	broad.mit.edu	37	20	3285094	3285094	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:3285094T>C	ENST00000252032.9	-	21	1842	c.1775A>G	c.(1774-1776)tAt>tGt	p.Y592C	C20orf194_ENST00000498079.1_5'UTR|C20orf194_ENST00000453730.2_Missense_Mutation_p.Y330C	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	592										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TACCCCATCATAGAAGGAAAT	0.418000													11	37					0	0	0.435327	0	0
SDR9C7	121214	broad.mit.edu	37	12	57327883	57327883	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:57327883C>A	ENST00000293502.1	-	1	306	c.163G>T	c.(163-165)Gct>Tct	p.A55S		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	55						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GTGAAGCAAGCAGCCAGCACC	0.562000													4	24					0.0215528	0.0223239	0.217242	1	0
RP11-403I13.8	0	broad.mit.edu	37	1	149289308	149289308	+	RNA	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:149289308G>T	ENST00000433084.1	+	0	1446																											ttggaagtccgagatcaaggt	0.458000													3	6					0.115264	0.117575	0.115264	1	0
FANCF	2188	broad.mit.edu	37	11	22647320	22647320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:22647320C>A	ENST00000327470.3	-	1	67	c.37G>T	c.(37-39)Gag>Tag	p.E13*	AC103801.2_ENST00000428556.2_3'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	13					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GCCAGAAGCTCGGAAAAGCGA	0.627000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	27					0.000442599	0.000487295	0.335167	1	0
FNIP2	57600	broad.mit.edu	37	4	159780351	159780351	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:159780351T>G	ENST00000264433.6	+	9	1075	c.1000T>G	c.(1000-1002)Ttt>Gtt	p.F334V	FNIP2_ENST00000379346.3_Missense_Mutation_p.F357V	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	334					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGACTTCTTCTTTTCTCATTT	0.378000													11	44					0	0	0.361761	0	0
CD1E	913	broad.mit.edu	37	1	158325939	158325939	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:158325939C>A	ENST00000434258.1	+	4	953	c.942C>A	c.(940-942)gcC>gcA	p.A314A	CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Intron			P15812	CD1E_HUMAN	CD1e molecule	0					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGAAAATAGCCCTGGGGCTTT	0.468000													5	44					0.014758	0.0153809	0.184627	1	0
AOAH	313	broad.mit.edu	37	7	36633954	36633954	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:36633954G>A	ENST00000431169.1	-	12	1229	c.929C>T	c.(928-930)tCc>tTc	p.S310F	AOAH_ENST00000258749.5_Missense_Mutation_p.S310F|AOAH_ENST00000538464.1_Missense_Mutation_p.S32F|AOAH_ENST00000535891.1_Missense_Mutation_p.S278F	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	310					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CCCAACAGTGGAGTCCAGAAA	0.453000													20	32					0	0	0.624587	0	0
MCTP2	55784	broad.mit.edu	37	15	95001378	95001378	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:95001378A>G	ENST00000357742.4	+	19	2263	c.2263A>G	c.(2263-2265)Aag>Gag	p.K755E	MCTP2_ENST00000451018.3_Missense_Mutation_p.K700E	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	755					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATCTGAGAAAAAGGGGTTGAT	0.294000													3	22					0	0	0.115264	0	0
LOC647264	647264	broad.mit.edu	37	13	64321194	64321194	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:64321194C>T	ENST00000453638.2	+	1	261	c.261C>T	c.(259-261)ggC>ggT	p.G87G																	endometrium(2)|lung(1)|urinary_tract(1)	4						ctggctgtggctatggaactg	0.572000													19	8					0	0	0.870114	0	0
ASUN	55726	broad.mit.edu	37	12	27078781	27078781	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:27078781G>A	ENST00000261191.7	-	6	1124	c.588C>T	c.(586-588)ctC>ctT	p.L196L	ASUN_ENST00000539625.1_Silent_p.L95L	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	196					cell division|mitosis|regulation of mitotic cell cycle		protein binding										GAATCTGCATGAGACTTAAAG	0.323000													14	38					0	0	0.539581	0	0
POLE	5426	broad.mit.edu	37	12	133202289	133202289	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:133202289T>C	ENST00000320574.5	-	47	6642	c.6599A>G	c.(6598-6600)gAg>gGg	p.E2200G	POLE_ENST00000535270.1_Missense_Mutation_p.E2173G	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2200					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CAGCGTCATCTCGATGGCAGA	0.622000								DNA polymerases (catalytic subunits)					34	9					0	0	0.819951	0	0
KLB	152831	broad.mit.edu	37	4	39448730	39448730	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:39448730G>T	ENST00000257408.4	+	4	2481	c.2384G>T	c.(2383-2385)cGa>cTa	p.R795L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	795	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TCCAAGCACCGACGGGGGCTT	0.652000													7	19					3.09899e-07	3.85708e-07	0.307466	1	0
C3	718	broad.mit.edu	37	19	6697380	6697380	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:6697380C>A	ENST00000245907.6	-	21	2863	c.2771G>T	c.(2770-2772)gGt>gTt	p.G924V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	924					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTTCCTGACACCGTCACTGAT	0.537000													15	14					2.32078e-09	3.05855e-09	0.479597	1	0
NPR2	4882	broad.mit.edu	37	9	35802274	35802274	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:35802274C>G	ENST00000342694.2	+	10	1959	c.1704C>G	c.(1702-1704)ctC>ctG	p.L568L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	568	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGTTTGAACTCAAACATGTAT	0.438000													11	147					0	0	0.411799	0	0
GABRA6	2559	broad.mit.edu	37	5	161116293	161116293	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:161116293G>T	ENST00000523217.1	+	5	692	c.450G>T	c.(448-450)ctG>ctT	p.L150L	GABRA6_ENST00000274545.5_Silent_p.L160L|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	160					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCATGAGGCTGGTTAACTTTC	0.398000										TCGA Ovarian(5;0.080)			6	44					1.76689e-08	2.28026e-08	0.335167	1	0
BAI1	575	broad.mit.edu	37	8	143558745	143558745	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:143558745G>T	ENST00000517894.1	+	6	2116		c.e6-1		BAI1_ENST00000323289.5_Splice_Site			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1						axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCCTCTGCAGTGCATGGTGC	0.721000													6	4					0.00116845	0.00126487	0.217242	1	0
PTPRN	5798	broad.mit.edu	37	2	220162805	220162805	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:220162805G>A	ENST00000295718.2	-	13	1929	c.1689C>T	c.(1687-1689)gtC>gtT	p.V563V	PTPRN_ENST00000409251.3_Silent_p.V534V|PTPRN_ENST00000423636.2_Silent_p.V473V	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	563					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TTTGGGGAAGGACTGCAGCTG	0.632000													19	48					0	0	0.608945	0	0
OR8K1	390157	broad.mit.edu	37	11	56113904	56113904	+	Silent	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:56113904A>T	ENST00000279783.2	+	1	484	c.390A>T	c.(388-390)gtA>gtT	p.V130V		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATCGCTACGTAGCCATCTGTA	0.408000										HNSCC(65;0.19)			26	73					0	0	0.706142	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819863	50819863	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:50819863C>A	ENST00000374115.3	+	1	1517	c.1077C>A	c.(1075-1077)taC>taA	p.Y359*	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	359					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						AGTGGCTGTACGGCGCGCTTG	0.682000													3	19					0.150653	0.152838	0.150653	1	0
RPL13AP3	645683	broad.mit.edu	37	14	56233135	56233135	+	RNA	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:56233135T>A	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							CCGCATCTTCTGGCCGACAGT	0.592000													9	5					0	0	0.435327	0	0
CDH9	1007	broad.mit.edu	37	5	26890029	26890029	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:26890029G>A	ENST00000231021.4	-	9	1600	c.1428C>T	c.(1426-1428)atC>atT	p.I476I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	476	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTAGAATTCTGATGAAGACAG	0.378000													4	36					0	0	0.361761	0	0
TBCD	6904	broad.mit.edu	37	17	80758865	80758865	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:80758865G>T	ENST00000355528.4	+	9	1073	c.943G>T	c.(943-945)Gca>Tca	p.A315S	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.A315S	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	315					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GAAGGTGGCAGCATGGAGGTA	0.672000													8	2					7.03913e-09	9.14052e-09	0.411799	1	0
MTMR1	8776	broad.mit.edu	37	X	149899000	149899000	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:149899000C>A	ENST00000445323.2	+	8	782	c.661C>A	c.(661-663)Cta>Ata	p.L221I	MTMR1_ENST00000542156.1_Missense_Mutation_p.L213I|MTMR1_ENST00000451863.2_Missense_Mutation_p.L213I|MTMR1_ENST00000541925.1_Missense_Mutation_p.L119I|MTMR1_ENST00000538506.1_Missense_Mutation_p.L100I|MTMR1_ENST00000370390.3_Missense_Mutation_p.L213I|MTMR1_ENST00000544228.1_Missense_Mutation_p.L213I			Q13613	MTMR1_HUMAN	myotubularin related protein 1	213						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCCAGGCACTATTTGCATT	0.294000													30	42					2.87052e-16	4.3735e-16	0.812448	1	0
TNC	3371	broad.mit.edu	37	9	117792633	117792633	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:117792633C>T	ENST00000350763.4	-	24	6383	c.5972G>A	c.(5971-5973)gGa>gAa	p.G1991E	TNC_ENST00000423613.2_Missense_Mutation_p.G1718E|TNC_ENST00000340094.3_Missense_Mutation_p.G1627E|TNC_ENST00000542877.1_Missense_Mutation_p.G1628E|TNC_ENST00000535648.1_Missense_Mutation_p.G1536E|TNC_ENST00000341037.4_Missense_Mutation_p.G1809E|TNC_ENST00000346706.3_Missense_Mutation_p.G1445E|TNC_ENST00000345230.3_Missense_Mutation_p.G1354E|TNC_ENST00000537320.1_Missense_Mutation_p.G1354E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1991	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGTCGTGTCTCCATTCAGCAT	0.522000													10	66					0	0	0.335167	0	0
FLJ46284	441369	broad.mit.edu	37	8	93728256	93728256	+	RNA	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:93728256C>T	ENST00000504861.2	-	0	354				RP11-100L22.2_ENST00000521230.1_RNA|RP11-100L22.2_ENST00000521148.1_RNA	NR_046114.1																						CTTCTGCATTCTCCACAGCTG	0.483000													3	3					0	0	0.115264	0	0
GPR158	57512	broad.mit.edu	37	10	25887316	25887316	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:25887316C>A	ENST00000376351.3	+	11	3120	c.2761C>A	c.(2761-2763)Caa>Aaa	p.Q921K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	921						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGGGAAAACCCAAACAGCAGG	0.433000													64	133					1.31726e-23	2.15564e-23	0.870114	1	0
PIK3AP1	118788	broad.mit.edu	37	10	98380187	98380187	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:98380187G>T	ENST00000339364.5	-	12	1982	c.1863C>A	c.(1861-1863)aaC>aaA	p.N621K	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.N443K|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.N220K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	621						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CCTCATCCACGTTGACAATGC	0.527000													7	40					1.99824e-07	2.51502e-07	0.520397	1	0
MUC16	94025	broad.mit.edu	37	19	8996360	8996360	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:8996360C>T	ENST00000397910.4	-	61	41415	c.41212G>A	c.(41212-41214)Ggc>Agc	p.G13738S	MUC16_ENST00000380951.5_Missense_Mutation_p.G379S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13740	SEA 11.			Missing (in Ref. 3; AAK74120).	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						GCATAGGGGCCCAGCTCAGTG	0.552000													52	157					0	0	0.870114	0	0
OR10C1	442194	broad.mit.edu	37	6	29408208	29408208	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:29408208T>A	ENST00000444197.2	+	1	1126	c.416T>A	c.(415-417)gTg>gAg	p.V139E	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGCCACCGGGTGTGTCTACAG	0.642000													84	62					0	0	0.870114	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182308	140182308	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:140182308C>A	ENST00000522353.2	+	1	1526	c.1526C>A	c.(1525-1527)tCg>tAg	p.S509*	PCDHA3_ENST00000532566.2_Nonsense_Mutation_p.S509*|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTACGTGTCGGTACACGCG	0.697000													14	7					2.35188e-11	3.25005e-11	0.539581	1	0
NLGN1	22871	broad.mit.edu	37	3	173997137	173997137	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:173997137C>A	ENST00000457714.1	+	6	1775	c.1346C>A	c.(1345-1347)cCt>cAt	p.P449H	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.P489H|NLGN1_ENST00000361589.4_Missense_Mutation_p.P449H|NLGN1_ENST00000545397.1_Missense_Mutation_p.P449H	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	466					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CGTCATAACCCTGAAACCAGA	0.418000													4	95					0.00024832	0.000275565	0.150653	1	0
FRMPD2	143162	broad.mit.edu	37	10	49420032	49420032	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:49420032G>C	ENST00000374201.3	-	13	1878	c.1576C>G	c.(1576-1578)Ctg>Gtg	p.L526V	FRMPD2_ENST00000407470.4_Missense_Mutation_p.L494V|FRMPD2_ENST00000305531.3_Missense_Mutation_p.L501V	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	526	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTCCCCACAGTGCAGAGCTG	0.552000													5	24					0	0	0.217242	0	0
SLC13A4	26266	broad.mit.edu	37	7	135384184	135384184	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:135384184G>T	ENST00000354042.4	-	8	1513	c.824C>A	c.(823-825)tCc>tAc	p.S275Y		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	275						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						AATGGTAGCGGAGTAGGATAT	0.527000													8	12					0.0692343	0.0712282	0.361761	1	0
PPM1L	151742	broad.mit.edu	37	3	160786769	160786769	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:160786769G>T	ENST00000498165.1	+	4	1008	c.907G>T	c.(907-909)Ggt>Tgt	p.G303C	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.G176C|PPM1L_ENST00000464260.1_Missense_Mutation_p.G124C	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	303	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GGCATCAGATGGTCTCTGGGA	0.473000													14	110					0.000219431	0.000244964	0.457914	1	0
TDGF1P3	6998	broad.mit.edu	37	X	109764926	109764926	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:109764926C>A	ENST00000602699.1	+	0	1387					NR_002718.2																						TACTATTAATCGACATTGACC	0.408000													8	51					3.86212e-05	4.4293e-05	0.361761	1	0
GRK5	2869	broad.mit.edu	37	10	121212278	121212278	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:121212278C>G	ENST00000392870.2	+	14	1829	c.1500C>G	c.(1498-1500)tcC>tcG	p.S500S	GRK5_ENST00000369108.3_Silent_p.S395S|GRK5_ENST00000473264.1_3'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	500	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		ACTTCTACTCCAAGTTCTCCA	0.592000													3	4					0	0	0.115264	0	0
KANSL1	284058	broad.mit.edu	37	17	44127983	44127983	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:44127983G>A	ENST00000262419.6	-	7	2406	c.1936C>T	c.(1936-1938)Ccc>Tcc	p.P646S	KANSL1_ENST00000432791.1_Missense_Mutation_p.P646S|KANSL1_ENST00000574590.1_Missense_Mutation_p.P646S|KANSL1_ENST00000572904.1_Missense_Mutation_p.P646S|KANSL1_ENST00000575318.1_Missense_Mutation_p.P646S|KANSL1_ENST00000393476.3_Missense_Mutation_p.P3S	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	646						MLL1 complex	protein binding										TGAATTTCGGGAGGCATGGTG	0.507000													6	82					0	0	0.217242	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148679077	148679077	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:148679077G>C	ENST00000296721.4	+	2	120	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.E8Q|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	8							protein binding	p.E8K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGTGCTGGAGCAGCTGCT	0.642000													27	15					0	0	0.804634	0	0
METTL22	79091	broad.mit.edu	37	16	8722919	8722919	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:8722919G>T	ENST00000381920.3	+	3	724	c.466G>T	c.(466-468)Gtc>Ttc	p.V156F	METTL22_ENST00000561758.1_Missense_Mutation_p.V100F	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	156							methyltransferase activity			large_intestine(5)|lung(4)	9						AGAAGACGACGTCCTGGGAGA	0.552000													19	46					1.40151e-16	2.14898e-16	0.592651	1	0
NHSL2	340527	broad.mit.edu	37	X	71359504	71359504	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:71359504G>A	ENST00000373677.1	+	2	2270	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	NHSL2_ENST00000510661.1_Silent_p.P471P|NHSL2_ENST00000535692.1_Silent_p.P336P|NHSL2_ENST00000540800.1_Silent_p.P702P			F5H593	F5H593_HUMAN	NHS-like 2	702								p.P333P(1)|p.P702P(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TATCATCCCCGGGAAGGCCCC	0.582000													6	44					0	0	0.307466	0	0
BBX	56987	broad.mit.edu	37	3	107491621	107491621	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:107491621G>A	ENST00000415149.2	+	11	1380	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	BBX_ENST00000402543.1_Silent_p.Q351Q|BBX_ENST00000325805.8_Silent_p.Q351Q|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Silent_p.Q351Q	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CTAGGTTACAGAAGGAAGCAG	0.313000													24	156					0	0	0.769981	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19817751	19817751	+	Splice_Site	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:19817751C>A	ENST00000379698.4	-	1	118		c.e1+1		SH3KBP1_ENST00000379697.3_Intron|SH3KBP1_ENST00000397821.3_Intron	NM_001024666.2	NP_001019837.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1						apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GGCCTACTTACAATCTCAGAC	0.483000													98	137					6.84326e-50	1.19686e-49	0.870114	1	0
OAS3	4940	broad.mit.edu	37	12	113398978	113398978	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:113398978G>A	ENST00000228928.7	+	8	1939	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	587	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCAGAGCTGCGGAGGAACTTC	0.587000													18	68					0	0	0.557998	0	0
ZBTB34	403341	broad.mit.edu	37	9	129641787	129641787	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:129641787G>C	ENST00000319119.4	+	2	194	c.109G>C	c.(109-111)Gac>Cac	p.D37H	ZBTB34_ENST00000373452.2_Missense_Mutation_p.D33H	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	33	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GAAACTATGTGACATCATTGT	0.507000													8	6					0	0	0.335167	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045641	26045641	+	Translation_Start_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:26045641G>T	ENST00000540144.1	+	1	3	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	1					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						CATTGCAAATGGCTCGTACGA	0.493000													38	33					9.45407e-15	1.39362e-14	0.870114	1	0
ESRRB	2103	broad.mit.edu	37	14	76905731	76905731	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:76905731G>T	ENST00000380887.2	+	2	107	c.35G>T	c.(34-36)tGc>tTc	p.C12F	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.C12F|ESRRB_ENST00000556177.1_Missense_Mutation_p.C12F|ESRRB_ENST00000509242.1_Missense_Mutation_p.C12F			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	12						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GGCTCCAGCTGCGGCTCCTTC	0.652000													65	43					1.68737e-39	2.9177e-39	0.870114	1	0
LILRP2	79166	broad.mit.edu	37	19	55220651	55220651	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:55220651C>A	ENST00000413439.1	+	0	789																											GCAGCGAGCCCCTGGAGCTGG	0.592000													7	2					1.05317e-09	1.39564e-09	0.457914	1	0
UTP14A	10813	broad.mit.edu	37	X	129059013	129059013	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:129059013C>A	ENST00000394422.3	+	12	1619	c.1591C>A	c.(1591-1593)Cct>Act	p.P531T	UTP14A_ENST00000371051.5_Missense_Mutation_p.P477T|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.P479T|UTP14A_ENST00000371042.3_Missense_Mutation_p.P363T	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	531					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GCTTCCCAGACCTGTGTTAGA	0.488000													62	136					2.36135e-34	4.04976e-34	0.870114	1	0
RYR3	6263	broad.mit.edu	37	15	33962620	33962620	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:33962620G>T	ENST00000389232.4	+	38	5793	c.5722_splice	c.e38-1	p.G1908_splice	RYR3_ENST00000415757.3_Splice_Site_p.G1908_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1908	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCTTGCTAGGGGTTCCTTTg	0.473000													4	8					2.56e-06	3.07676e-06	0.150653	1	0
UNC79	57578	broad.mit.edu	37	14	94007143	94007143	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:94007143A>T	ENST00000553484.1	+	13	1644	c.1490A>T	c.(1489-1491)cAg>cTg	p.Q497L	UNC79_ENST00000256339.4_Missense_Mutation_p.Q320L|UNC79_ENST00000555664.1_Missense_Mutation_p.Q497L|UNC79_ENST00000393151.2_Missense_Mutation_p.Q497L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	497						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAACACGATCAGAGGCTGCTC	0.433000													18	55					0	0	0.608945	0	0
KCTD20	222658	broad.mit.edu	37	6	36449479	36449479	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:36449479G>A	ENST00000373731.2	+	6	1190	c.799G>A	c.(799-801)Gat>Aat	p.D267N	KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000536244.1_Missense_Mutation_p.D122N|KCTD20_ENST00000449081.2_Missense_Mutation_p.D101N|KCTD20_ENST00000544295.1_Missense_Mutation_p.D21N	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	267						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GACGGATGAGGATTCTGTGGA	0.507000													17	37					0	0	0.500413	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128912	248128912	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:248128912G>T	ENST00000366480.3	+	1	378	c.279G>T	c.(277-279)gtG>gtT	p.V93V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCACCACAGTGCCCAAGATGG	0.483000													43	91					2.18974e-44	3.81784e-44	0.870114	1	0
TSPAN10	83882	broad.mit.edu	37	17	79612191	79612191	+	RNA	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:79612191C>T	ENST00000328585.4	+	0	300				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTTCCCTCTCCCCAGGGAGCA	0.667000													8	6					0	0	0.361761	0	0
CRYGA	1418	broad.mit.edu	37	2	209025587	209025587	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:209025587C>A	ENST00000304502.4	-	3	485	c.466G>T	c.(466-468)Gac>Tac	p.D156Y		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		CCCCCCCAGTCGTGGTACCTT	0.552000													18	53					1.9806e-07	2.50032e-07	0.624587	1	0
TAF9B	51616	broad.mit.edu	37	X	77394407	77394407	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:77394407G>C	ENST00000341864.5	-	2	160	c.66C>G	c.(64-66)atC>atG	p.I22M		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	22					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding	p.I22I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						TATCCTTCAGGATCTGTGCCA	0.368000													30	38					0	0	0.779181	0	0
LINC00314	246705	broad.mit.edu	37	21	29395055	29395055	+	RNA	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr21:29395055G>T	ENST00000324988.3	+	0	110					NR_027246.1																						GAGGAATGTTGAAGATTGCAG	0.453000													3	3					0.115264	0.117575	0.115264	1	0
PAPD4	167153	broad.mit.edu	37	5	78915546	78915546	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:78915546G>C	ENST00000453514.1	+	2	768	c.75G>C	c.(73-75)ctG>ctC	p.L25L	PAPD4_ENST00000428308.2_Silent_p.L25L|PAPD4_ENST00000504233.1_Silent_p.L25L|PAPD4_ENST00000423041.2_Silent_p.L25L|PAPD4_ENST00000296783.3_Silent_p.L25L	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	25					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TCTTTACCCTGTCACCTACTG	0.408000													8	35					0	0	0.278610	0	0
TRIOBP	11078	broad.mit.edu	37	22	38130882	38130882	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:38130882G>T	ENST00000406386.3	+	9	4794	c.4539G>T	c.(4537-4539)acG>acT	p.T1513T	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1513					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCCACTCACGAGCCCCCCTG	0.637000													3	3					0.000602214	0.000658709	0.184627	1	0
COL6A5	256076	broad.mit.edu	37	3	130187806	130187806	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:130187806T>A	ENST00000265379.6	+	38	7452	c.6958T>A	c.(6958-6960)Tac>Aac	p.Y2320N	COL6A5_ENST00000432398.2_Missense_Mutation_p.Y2320N			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2320	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGTGCTTGATTACTTTCACAT	0.443000													10	67					0	0	0.387290	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209141439	209141439	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:209141439C>G	ENST00000264380.4	+	4	484	c.326C>G	c.(325-327)aCa>aGa	p.T109R	PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.T109R	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	109					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AACTCAGACACAAGAAGGAAA	0.413000													7	41					0	0	0.307466	0	0
ZNF362	149076	broad.mit.edu	37	1	33747241	33747241	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:33747241C>G	ENST00000539719.1	+	6	907	c.737C>G	c.(736-738)tCc>tGc	p.S246C	ZNF362_ENST00000373428.5_Missense_Mutation_p.S246C	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CAGATCCACTCCAAGTCGCAC	0.592000													3	67					0	0	0.150653	0	0
NRXN3	9369	broad.mit.edu	37	14	79175701	79175701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:79175701G>T	ENST00000554719.1	+	4	735	c.244G>T	c.(244-246)Gag>Tag	p.E82*	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Nonsense_Mutation_p.E82*	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGAGACCCCAGAGGCTTACAT	0.517000													50	72					3.86236e-30	6.52405e-30	0.870114	1	0
IGSF22	283284	broad.mit.edu	37	11	18732226	18732226	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:18732226G>T	ENST00000513874.1	-	16	2687	c.2548C>A	c.(2548-2550)Cca>Aca	p.P850T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	848	Fibronectin type-III 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTGTTGACTGGCACCCACAGG	0.572000													10	39					9.31168e-06	1.10256e-05	0.435327	1	0
TNR	7143	broad.mit.edu	37	1	175325528	175325528	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:175325528G>T	ENST00000367674.1	-	16	3753	c.3045C>A	c.(3043-3045)acC>acA	p.T1015T	TNR_ENST00000263525.2_Silent_p.T1015T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1015	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGTATAGTGGGTGCTAGGAA	0.493000													77	39					2.43199e-30	4.12039e-30	0.870114	1	0
CD163L1	283316	broad.mit.edu	37	12	7527243	7527243	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:7527243G>T	ENST00000313599.3	-	13	3261	c.3204C>A	c.(3202-3204)agC>agA	p.S1068R	CD163L1_ENST00000396630.1_Missense_Mutation_p.S1068R|CD163L1_ENST00000416109.2_Missense_Mutation_p.S1078R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1068	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.D1069fs*27(1)|p.S1068S(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CGTGGGCATCGCTCAGGTCCC	0.622000											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	85	31					2.09793e-52	3.68069e-52	0.870114	1	0
TEDDM1	127670	broad.mit.edu	37	1	182369011	182369011	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:182369011A>T	ENST00000367565.1	-	1	740	c.610T>A	c.(610-612)Tgg>Agg	p.W204R		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	204						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						ATCACATGCCAGCAGAAGAAG	0.488000													33	13					0	0	0.788014	0	0
YY1AP1	55249	broad.mit.edu	37	1	155629968	155629968	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:155629968T>C	ENST00000368340.5	-	10	2195	c.2087A>G	c.(2086-2088)aAt>aGt	p.N696S	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.N558S|YY1AP1_ENST00000407221.1_Missense_Mutation_p.N547S|YY1AP1_ENST00000295566.4_Missense_Mutation_p.N624S|YY1AP1_ENST00000368330.2_Missense_Mutation_p.N578S|YY1AP1_ENST00000368339.5_Missense_Mutation_p.N716S|YY1AP1_ENST00000361831.5_Missense_Mutation_p.N567S|YY1AP1_ENST00000359205.5_Missense_Mutation_p.N567S|YY1AP1_ENST00000355499.4_Missense_Mutation_p.N578S|YY1AP1_ENST00000347088.5_Missense_Mutation_p.N578S|YY1AP1_ENST00000535662.1_Missense_Mutation_p.N424S|YY1AP1_ENST00000311573.5_Missense_Mutation_p.N547S	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CACAGCCGCATTGACAGGCTG	0.557000													12	61					0	0	0.435327	0	0
MMS22L	253714	broad.mit.edu	37	6	97676907	97676907	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:97676907C>A	ENST00000275053.4	-	14	2167	c.1902G>T	c.(1900-1902)gtG>gtT	p.V634V	MMS22L_ENST00000369251.2_Silent_p.V594V	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	634					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGGTCTCAAACACTTCTTGAA	0.403000													19	33					3.32936e-07	4.13156e-07	0.539581	1	0
TARBP1	6894	broad.mit.edu	37	1	234582570	234582570	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:234582570T>C	ENST00000040877.1	-	12	2112	c.2113A>G	c.(2113-2115)Aaa>Gaa	p.K705E		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	705					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTGGAACCTTTCAACCTGCAT	0.443000													8	79					0	0	0.335167	0	0
SLIT3	6586	broad.mit.edu	37	5	168180884	168180884	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:168180884C>A	ENST00000519560.1	-	17	2233	c.1814G>T	c.(1813-1815)aGt>aTt	p.S605I	SLIT3_ENST00000404867.3_Missense_Mutation_p.S605I|SLIT3_ENST00000332966.8_Missense_Mutation_p.S605I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	605					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTGAGGCCACTGAGGCCACG	0.632000													9	34					1.12685e-05	1.32957e-05	0.307466	1	0
MYOZ1	58529	broad.mit.edu	37	10	75394358	75394358	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:75394358G>C	ENST00000359322.4	-	4	750	c.386C>G	c.(385-387)tCt>tGt	p.S129C		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	129	Gly-rich.				myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CTGCTGATCAGAGCCATACTG	0.657000													3	65					0	0	0.115264	0	0
DMD	1756	broad.mit.edu	37	X	31496456	31496456	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:31496456G>T	ENST00000357033.4	-	59	8910	c.8704C>A	c.(8704-8706)Cgg>Agg	p.R2902R	DMD_ENST00000474231.1_Silent_p.R442R|DMD_ENST00000378707.3_Silent_p.R442R|DMD_ENST00000541735.1_Silent_p.R442R|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378677.2_Silent_p.R2898R|DMD_ENST00000359836.1_Silent_p.R442R|DMD_ENST00000343523.2_Silent_p.R442R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2902					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGTAGAAGCCGAGTGACATTC	0.443000													19	39					6.33239e-15	9.37573e-15	0.592651	1	0
OR2AK2	391191	broad.mit.edu	37	1	248128867	248128867	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:248128867C>A	ENST00000366480.3	+	1	333	c.234C>A	c.(232-234)ctC>ctA	p.L78L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACTTTCTGCTCAGTCAGCTCT	0.478000													79	100					2.03867e-50	3.56926e-50	0.870114	1	0
RYR2	6262	broad.mit.edu	37	1	237993894	237993894	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:237993894C>A	ENST00000366574.2	+	103	15037	c.14720C>A	c.(14719-14721)aCc>aAc	p.T4907N	RYR2_ENST00000360064.6_Missense_Mutation_p.T4913N|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.T4891N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4907					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.T4905S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTTTGAAACCCACACTTTA	0.463000													59	280					1.72039e-30	2.91771e-30	0.870114	1	0
LNP1	348801	broad.mit.edu	37	3	100148663	100148663	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:100148663G>C	ENST00000383693.3	+	2	1370	c.90G>C	c.(88-90)caG>caC	p.Q30H	LNP1_ENST00000489752.1_Missense_Mutation_p.Q30H	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	30										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						AGGAGGATCAGAGAGGACTCC	0.542000													14	125					0	0	0.479597	0	0
DRP2	1821	broad.mit.edu	37	X	100496812	100496812	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:100496812G>T	ENST00000395209.3	+	7	1242	c.715G>T	c.(715-717)Gca>Tca	p.A239S	DRP2_ENST00000402866.1_Missense_Mutation_p.A239S|DRP2_ENST00000541709.1_Missense_Mutation_p.A161S|DRP2_ENST00000538510.1_Missense_Mutation_p.A239S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	239					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GATTCAAGGGGCAATGGAGGA	0.562000													11	9					3.07112e-06	3.67265e-06	0.387290	1	0
CPB2	1361	broad.mit.edu	37	13	46658375	46658375	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:46658375T>G	ENST00000181383.4	-	3	270	c.254A>C	c.(253-255)aAt>aCt	p.N85T	CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.N85T|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	85					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TCCGCTCACATTTAAATGGGC	0.388000													12	83					0	0	0.457914	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018385	101018385	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:101018385G>C	ENST00000537247.1	+	10	2444	c.1490G>C	c.(1489-1491)gGa>gCa	p.G497A	GAS2L3_ENST00000539410.1_Missense_Mutation_p.G601A|GAS2L3_ENST00000266754.5_Missense_Mutation_p.G601A|GAS2L3_ENST00000547754.1_Missense_Mutation_p.G601A			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	601					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGAAGACAGGACCCAGCTCC	0.458000													27	17					0	0	0.717897	0	0
MUSK	4593	broad.mit.edu	37	9	113562632	113562632	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:113562632G>T	ENST00000416899.2	+	13	2076	c.1950G>T	c.(1948-1950)atG>atT	p.M650I	MUSK_ENST00000189978.5_Missense_Mutation_p.M658I|MUSK_ENST00000374448.4_Missense_Mutation_p.M658I			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	658	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTGAATACATGGCCTATGGTG	0.517000													80	61					1.63847e-34	2.81575e-34	0.870114	1	0
LEPR	3953	broad.mit.edu	37	1	66058460	66058460	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:66058460C>G	ENST00000349533.6	+	6	800	c.615C>G	c.(613-615)ctC>ctG	p.L205L	LEPR_ENST00000371059.3_Silent_p.L205L|LEPR_ENST00000371060.3_Silent_p.L205L|LEPR_ENST00000344610.8_Silent_p.L205L|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Silent_p.L205L|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	205					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAGCCAAACTCAACGACACTC	0.428000													16	28					0	0	0.557998	0	0
RIBC1	158787	broad.mit.edu	37	X	53456805	53456805	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:53456805C>A	ENST00000375327.3	+	6	701	c.548C>A	c.(547-549)gCg>gAg	p.A183E	RIBC1_ENST00000414955.2_Missense_Mutation_p.A68E	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	183										lung(2)	2						TGTGTAGATGCGCTCAGTAAC	0.552000													8	87					1.76689e-08	2.28026e-08	0.335167	1	0
DSC1	1823	broad.mit.edu	37	18	28711672	28711672	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:28711672G>A	ENST00000257197.3	-	15	2633	c.2372C>T	c.(2371-2373)tCc>tTc	p.S791F	DSC1_ENST00000257198.5_Missense_Mutation_p.S791F|RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	791					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCCTTTGTTGGAATCCAAAGT	0.493000													18	47					0	0	0.575678	0	0
KCNB1	3745	broad.mit.edu	37	20	48098460	48098460	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:48098460C>A	ENST00000371741.4	-	1	724	c.558G>T	c.(556-558)gtG>gtT	p.V186V		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	186					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCTTGGCAGCCACAGAGGAAT	0.577000													60	49					2.59843e-28	4.34106e-28	0.870114	1	0
ADAM5	255926	broad.mit.edu	37	8	39182786	39182786	+	RNA	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:39182786G>T	ENST00000505455.1	+	0	577																											TATTGTTGTGGACAAAAATTT	0.289000													2	1					0.115264	0.117575	0.115264	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20874971	20874971	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:20874971G>T	ENST00000381552.1	+	8	1377	c.1009G>T	c.(1009-1011)Gaa>Taa	p.E337*	SLCO1C1_ENST00000545102.1_Nonsense_Mutation_p.E219*|SLCO1C1_ENST00000545604.1_Nonsense_Mutation_p.E337*|SLCO1C1_ENST00000540354.1_Nonsense_Mutation_p.E288*|SLCO1C1_ENST00000266509.2_Nonsense_Mutation_p.E337*			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	337					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)					AAAAATAATGGAAATGGCAAG	0.353000													37	17					4.16155e-14	6.0548e-14	0.840704	1	0
PCDH18	54510	broad.mit.edu	37	4	138450956	138450956	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:138450956G>T	ENST00000344876.4	-	1	2673	c.2287C>A	c.(2287-2289)Cct>Act	p.P763T	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P763T|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.P543T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	763					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTTATGGTAGGCACCAATGTG	0.512000													10	37					2.17888e-05	2.53875e-05	0.335167	1	0
DCHS1	8642	broad.mit.edu	37	11	6644451	6644451	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:6644451T>A	ENST00000299441.3	-	21	8867	c.8456A>T	c.(8455-8457)cAc>cTc	p.H2819L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2819	Cadherin 27.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTTGGAAGTGGAAAGCTGG	0.582000													6	10					0	0	0.278610	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185301	127185301	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:127185301A>T	ENST00000371124.3	-	1	1081	c.885T>A	c.(883-885)taT>taA	p.Y295*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	295						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CAATGTCTGCATAAAGTTTAT	0.517000													80	123					0	0	0.870114	0	0
OR1S2	219958	broad.mit.edu	37	11	57971443	57971443	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:57971443G>T	ENST00000302592.6	-	1	210	c.211C>A	c.(211-213)Ccc>Acc	p.P71T		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGATACATGGGGGTGTGAAGG	0.448000													17	56					3.32936e-07	4.13156e-07	0.539581	1	0
EIF2B4	8890	broad.mit.edu	37	2	27591875	27591875	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:27591875G>A	ENST00000493344.2	-	3	791	c.479C>T	c.(478-480)tCa>tTa	p.S160L	EIF2B4_ENST00000347454.4_Missense_Mutation_p.S139L|EIF2B4_ENST00000445933.2_Missense_Mutation_p.S138L|EIF2B4_ENST00000451130.2_Missense_Mutation_p.S159L			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	139					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGATACCTGAGGGGGTTTC	0.547000													9	41					0	0	0.387290	0	0
GLRB	2743	broad.mit.edu	37	4	157999241	157999241	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:157999241C>A	ENST00000264428.4	+	2	335	c.65C>A	c.(64-66)tCt>tAt	p.S22Y	GLRB_ENST00000512619.1_Missense_Mutation_p.S22Y|GLRB_ENST00000509282.1_Missense_Mutation_p.S22Y|GLRB_ENST00000541722.1_Missense_Mutation_p.S22Y	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	22					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GAAGCCTATTCTAAGGAAAAG	0.333000													57	44					5.5144e-22	8.91974e-22	0.870114	1	0
SI	6476	broad.mit.edu	37	3	164709182	164709182	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:164709182G>A	ENST00000264382.3	-	44	5129	c.5067C>T	c.(5065-5067)caC>caT	p.H1689H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1689	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATGGTAGGATGTGACCACCAC	0.388000										HNSCC(35;0.089)			91	30					0	0	0.870114	0	0
TAF1L	138474	broad.mit.edu	37	9	32634595	32634595	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:32634595T>A	ENST00000242310.4	-	1	1072	c.983A>T	c.(982-984)gAt>gTt	p.D328V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	328					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CGTGATTTCATCATCAGCGAG	0.478000													11	85					0	0	0.387290	0	0
SCN7A	6332	broad.mit.edu	37	2	167330312	167330312	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:167330312A>T	ENST00000409855.1	-	4	566	c.440T>A	c.(439-441)tTa>tAa	p.L147*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	147					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						aacatactctaataCTGGTCT	0.234000													3	23					0	0	0.184627	0	0
TSPYL1	7259	broad.mit.edu	37	6	116600261	116600261	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:116600261G>C	ENST00000368608.3	-	1	805	c.733C>G	c.(733-735)Cag>Gag	p.Q245E	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	245					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CTGTCGGCCTGAGCATTCACA	0.597000													6	29					0	0	0.335167	0	0
GABRA4	2557	broad.mit.edu	37	4	46994950	46994950	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:46994950G>T	ENST00000264318.3	-	2	1082	c.100C>A	c.(100-102)Cca>Aca	p.P34T	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	34					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCTGTCCTGGGGATTCGTTT	0.443000													7	37					0.0293803	0.0303754	0.248553	1	0
STK39	27347	broad.mit.edu	37	2	168921885	168921885	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:168921885C>A	ENST00000355999.4	-	13	1954	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L	STK39_ENST00000487143.1_5'UTR	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	417					response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						CTGGCACTCACTGCAATCTGT	0.478000													18	40					2.94398e-08	3.7848e-08	0.557998	1	0
ZNF578	147660	broad.mit.edu	37	19	53014749	53014749	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:53014749A>T	ENST00000421239.2	+	6	1359	c.1115A>T	c.(1114-1116)aAg>aTg	p.K372M	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAACCTTACAAGTGTAATGAG	0.383000													68	21					0	0	0.870114	0	0
EML1	2009	broad.mit.edu	37	14	100364625	100364625	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:100364625T>C	ENST00000262233.6	+	8	1022	c.883T>C	c.(883-885)Tcg>Ccg	p.S295P	EML1_ENST00000334192.4_Missense_Mutation_p.S314P|EML1_ENST00000327921.9_Missense_Mutation_p.S283P	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	295						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGCGGGCACATCGAAGGATGG	0.388000													12	43					0	0	0.411799	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64592756	64592756	+	Splice_Site	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:64592756C>A	ENST00000498707.1	-	23	3697		c.e23-1		ADAMTS9_ENST00000295903.4_Splice_Site	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9						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)		TGACACTGCACTGGAAGAAGG	0.413000													9	48					1.76689e-08	2.28026e-08	0.335167	1	0
BRINP2	57795	broad.mit.edu	37	1	177242683	177242683	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:177242683C>A	ENST00000361539.4	+	5	1041	c.729C>A	c.(727-729)gtC>gtA	p.V243V	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		243						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGGACTCAGTCAGTTCTGTCT	0.443000													18	17					0.000132079	0.000148833	0.575678	1	0
NLRP9	338321	broad.mit.edu	37	19	56243816	56243816	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:56243816G>T	ENST00000332836.2	-	2	1408	c.1381C>A	c.(1381-1383)Cga>Aga	p.R461R		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	461	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCTTTGGGTCGTTTGAGCAAA	0.498000													126	34					6.58503e-60	1.16137e-59	0.870114	1	0
PTPRD	5789	broad.mit.edu	37	9	8465578	8465578	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:8465578G>T	ENST00000381196.4	-	29	4145	c.3602C>A	c.(3601-3603)aCt>aAt	p.T1201N	PTPRD_ENST00000397606.3_Missense_Mutation_p.T780N|PTPRD_ENST00000397611.3_Missense_Mutation_p.T787N|PTPRD_ENST00000540109.1_Missense_Mutation_p.T1201N|PTPRD_ENST00000356435.5_Missense_Mutation_p.T1201N|PTPRD_ENST00000537002.1_Missense_Mutation_p.T787N|PTPRD_ENST00000360074.4_Missense_Mutation_p.T1188N|PTPRD_ENST00000358503.5_Missense_Mutation_p.T1179N|PTPRD_ENST00000486161.1_Missense_Mutation_p.T790N|PTPRD_ENST00000397617.3_Missense_Mutation_p.T780N|PTPRD_ENST00000355233.5_Missense_Mutation_p.T790N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1201					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTGAACTCAGTGGGAAGGAC	0.428000										TSP Lung(15;0.13)			37	132					2.66277e-13	3.81141e-13	0.827153	1	0
KCTD3	51133	broad.mit.edu	37	1	215751388	215751388	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:215751388G>T	ENST00000259154.4	+	6	655	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	121						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTCCTCTTGTGGCAGTGTCCT	0.353000													15	67					4.7546e-09	6.21727e-09	0.500413	1	0
SLC25A39	51629	broad.mit.edu	37	17	42398096	42398096	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:42398096A>G	ENST00000225308.8	-	9	845	c.671T>C	c.(670-672)cTg>cCg	p.L224P	SLC25A39_ENST00000537904.2_Missense_Mutation_p.L209P|SLC25A39_ENST00000377095.5_Missense_Mutation_p.L232P|SLC25A39_ENST00000586016.1_Missense_Mutation_p.L100P|SLC25A39_ENST00000590194.1_Missense_Mutation_p.L224P	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	232					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GAACCAGTACAGGGCTTGGGG	0.582000													20	7					0	0	0.681144	0	0
TNR	7143	broad.mit.edu	37	1	175325590	175325590	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:175325590C>A	ENST00000367674.1	-	16	3691	c.2983G>T	c.(2983-2985)Gag>Tag	p.E995*	TNR_ENST00000263525.2_Nonsense_Mutation_p.E995*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	995	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGATGGTCTCTCCAGCGACT	0.438000													12	67					8.60227e-14	1.24941e-13	0.500413	1	0
FAM47C	442444	broad.mit.edu	37	X	37027040	37027040	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:37027040T>A	ENST00000358047.3	+	1	609	c.557T>A	c.(556-558)tTc>tAc	p.F186Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	186										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTGGGGAATTCTCCCCTCGG	0.642000													7	18					0	0	0.307466	0	0
DBX2	440097	broad.mit.edu	37	12	45410244	45410244	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:45410244A>T	ENST00000332700.6	-	4	1016	c.845T>A	c.(844-846)gTc>gAc	p.V282D		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	282						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CTGTTGGGGGACGTCCCATAT	0.512000													31	124					0	0	0.769981	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530379	125530379	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:125530379C>A	ENST00000431078.1	+	17	2898	c.2534C>A	c.(2533-2535)cCt>cAt	p.P845H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	845	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTTCAGCTCCTTCAGAGATC	0.473000													6	101					0.00307968	0.0032893	0.278610	1	0
CCKBR	887	broad.mit.edu	37	11	6291483	6291483	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:6291483C>A	ENST00000525462.1	+	3	572	c.569C>A	c.(568-570)cCc>cAc	p.P190H	CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.P190H|CCKBR_ENST00000532715.1_Missense_Mutation_p.P106H			P32239	GASR_HUMAN	cholecystokinin B receptor	154					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GTGCCCTACCCCGTGTACACT	0.657000													10	35					3.86212e-05	4.4293e-05	0.361761	1	0
OR4M2	390538	broad.mit.edu	37	15	22368930	22368930	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:22368930G>T	ENST00000332663.2	+	1	453	c.355G>T	c.(355-357)Gcc>Tcc	p.A119S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CACAGTGATGGCCTTTGACCT	0.502000													56	164					1.27102e-15	1.9088e-15	0.870114	1	0
ADAMDEC1	27299	broad.mit.edu	37	8	24242021	24242021	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:24242021C>A	ENST00000256412.4	+	1	224	c.4C>A	c.(4-6)Ctg>Atg	p.L2M	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAMDEC1_ENST00000522298.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000538205.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	2					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAACTTCATGCTGCGTGGGAT	0.468000													9	11					0.000274275	0.000302767	0.307466	1	0
HGF	3082	broad.mit.edu	37	7	81388036	81388036	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:81388036G>A	ENST00000222390.5	-	3	565	c.339C>T	c.(337-339)ggC>ggT	p.G113G	HGF_ENST00000457544.2_Silent_p.G113G|HGF_ENST00000453018.1_Silent_p.G10G|HGF_ENST00000354224.6_Silent_p.G113G|HGF_ENST00000423064.2_Silent_p.G113G|HGF_ENST00000453411.1_Silent_p.G113G|HGF_ENST00000444829.2_Silent_p.G113G	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	113	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CAAATTCATGGCCAAATTCTT	0.333000													12	40					0	0	0.411799	0	0
OR8I2	120586	broad.mit.edu	37	11	55861152	55861152	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:55861152C>A	ENST00000302124.2	+	1	400	c.369C>A	c.(367-369)taC>taA	p.Y123*	OR8I2_ENST00000560768.1_Nonsense_Mutation_p.Y123*			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ACAATCGCTACATAGCAATCT	0.438000													23	50					1.96895e-08	2.53907e-08	0.639603	1	0
THSD7A	221981	broad.mit.edu	37	7	11486869	11486869	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:11486869G>C	ENST00000423059.3	-	12	3039	c.2788C>G	c.(2788-2790)Cgc>Ggc	p.R930G	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	930	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACAAGAGTGCGCTTTCTGGTC	0.468000										HNSCC(18;0.044)			22	31					0	0	0.639603	0	0
PDGFB	5155	broad.mit.edu	37	22	39631851	39631851	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:39631851T>C	ENST00000331163.6	-	2	879	c.92A>G	c.(91-93)gAg>gGg	p.E31G	PDGFB_ENST00000381551.4_Missense_Mutation_p.E16G	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	31					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	ACTCAGCATCTCATAAAGCTC	0.627000			T	COL1A1	DFSP								3	7					0	0	0.115264	0	0
NFYC	4802	broad.mit.edu	37	1	41223798	41223798	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:41223798G>C	ENST00000372652.1	+	6	661	c.393G>C	c.(391-393)gaG>gaC	p.E131D	NFYC_ENST00000372651.1_Missense_Mutation_p.E131D|NFYC_ENST00000372653.1_Missense_Mutation_p.E131D|NFYC_ENST00000372654.1_Missense_Mutation_p.E131D|NFYC_ENST00000308733.5_Missense_Mutation_p.E131D|NFYC_ENST00000456393.2_Missense_Mutation_p.E131D|NFYC_ENST00000447388.3_Missense_Mutation_p.E131D|NFYC_ENST00000440226.3_Missense_Mutation_p.E131D|NFYC_ENST00000427410.2_Missense_Mutation_p.E93D|NFYC_ENST00000425457.2_Missense_Mutation_p.E131D			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	131					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			AACAGGAGGAGGTGCGCCAGT	0.572000													5	14					0	0	0.248553	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017350	93017350	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:93017350G>T	ENST00000523629.1	-	6	1188	c.734C>A	c.(733-735)cCa>cAa	p.P245Q	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P218Q|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P256Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P218Q|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P208Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P208Q|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.P208Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P208Q|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P245Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	245					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCACCTGTCTGGAGTTCGCCT	0.527000													39	109					1.04594e-18	1.63971e-18	0.819951	1	0
GPR85	54329	broad.mit.edu	37	7	112724206	112724206	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:112724206G>A	ENST00000501255.2	-	3	1194	c.571C>T	c.(571-573)Ctt>Ttt	p.L191F	GPR85_ENST00000297146.2_Missense_Mutation_p.L191F|GPR85_ENST00000424100.1_Missense_Mutation_p.L191F|GPR85_ENST00000449591.1_Missense_Mutation_p.L191F	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	191						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATGAGAGCAAGAAGCAGCATA	0.458000													15	32					0	0	0.500413	0	0
CUL5	8065	broad.mit.edu	37	11	107975024	107975024	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:107975024G>C	ENST00000393094.2	+	19	2872	c.2256G>C	c.(2254-2256)atG>atC	p.M752I		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	752					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AAAAGAAAATGATAAAAGAGC	0.289000													15	27					0	0	0.539581	0	0
RBL2	5934	broad.mit.edu	37	16	53524047	53524047	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:53524047G>C	ENST00000262133.6	+	22	3392	c.3255G>C	c.(3253-3255)ctG>ctC	p.L1085L	RBL2_ENST00000544545.1_Silent_p.L464L|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1085					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CATAGAGACTGAGAGAAATTA	0.343000													23	11					0	0	0.624587	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421872	153421872	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:153421872C>A	ENST00000369951.4	+	5	908	c.848C>A	c.(847-849)cCc>cAc	p.P283H	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	283					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTGGGGACCCTACACCTTC	0.557000													106	414					8.97248e-49	1.56599e-48	0.870114	1	0
PARP4	143	broad.mit.edu	37	13	25000737	25000737	+	Splice_Site	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:25000737C>A	ENST00000381989.3	-	33	4952		c.e33-1			NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4						cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CCTTTTACACCTAAAAGGAAA	0.388000													15	35					0.575678	0.579127	0.575678	1	0
EPB41L3	23136	broad.mit.edu	37	18	5416170	5416170	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:5416170C>A	ENST00000341928.2	-	13	2054	c.1714G>T	c.(1714-1716)Gct>Tct	p.A572S	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A572S|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	572	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TAGCTAAAAGCCACATCTTGA	0.567000													15	97					3.45872e-05	4.0022e-05	0.500413	1	0
TRPM8	79054	broad.mit.edu	37	2	234891745	234891745	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:234891745G>T	ENST00000324695.4	+	20	2678	c.2638G>T	c.(2638-2640)Gcc>Tcc	p.A880S	TRPM8_ENST00000433712.2_Missense_Mutation_p.A458S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	880						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTGGATGGTGGCCTTTGGCGT	0.582000													54	77					2.81305e-35	4.83925e-35	0.870114	1	0
CAPN6	827	broad.mit.edu	37	X	110489962	110489962	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:110489962T>A	ENST00000324068.1	-	13	1936	c.1769A>T	c.(1768-1770)gAt>gTt	p.D590V	CAPN6_ENST00000541758.1_Missense_Mutation_p.D335V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	590	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CAAGAACTGATCACAGAATTT	0.522000													54	48					0	0	0.870114	0	0
WDR49	151790	broad.mit.edu	37	3	167322121	167322121	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:167322121G>C	ENST00000308378.3	-	2	376	c.71C>G	c.(70-72)gCt>gGt	p.A24G	WDR49_ENST00000453925.2_Missense_Mutation_p.A77G|WDR49_ENST00000479765.1_Missense_Mutation_p.A365G	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	24										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATAATCAAAAGCATGAATGCC	0.368000													6	90					0	0	0.217242	0	0
ATP10A	57194	broad.mit.edu	37	15	25971134	25971134	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:25971134G>T	ENST00000356865.6	-	5	1054	c.943C>A	c.(943-945)Ctg>Atg	p.L315M		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	315					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACAAGGAGCAGGACACACCAG	0.567000													37	13					6.04917e-29	1.01363e-28	0.827153	1	0
OSCAR	126014	broad.mit.edu	37	19	54600290	54600290	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:54600290C>A	ENST00000284648.6	-	4	429	c.232G>T	c.(232-234)Gtg>Ttg	p.V78L	OSCAR_ENST00000391761.1_Missense_Mutation_p.V67L|OSCAR_ENST00000351806.4_Missense_Mutation_p.V67L|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000359649.4_Missense_Mutation_p.V82L|OSCAR_ENST00000356532.3_Missense_Mutation_p.V82L|OSCAR_ENST00000358375.4_Missense_Mutation_p.V78L			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	78	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					TCGGAGGACACATCCCGGAAG	0.602000													46	21					2.64514e-33	4.51799e-33	0.870114	1	0
MAP1B	4131	broad.mit.edu	37	5	71493326	71493326	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:71493326G>A	ENST00000296755.7	+	5	4442	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1382						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCCCATGGATGAGCCCGTGCC	0.463000													41	87					0	0	0.834066	0	0
PSMD11	5717	broad.mit.edu	37	17	30807572	30807572	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:30807572G>T	ENST00000261712.3	+	13	1455	c.1192G>T	c.(1192-1194)Gaa>Taa	p.E398*	PSMD11_ENST00000457654.2_Nonsense_Mutation_p.E398*	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	398					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|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	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			TAAAACTTACGAAGCTGCTCT	0.468000													24	46					1.64293e-13	2.3678e-13	0.654019	1	0
MYO18B	84700	broad.mit.edu	37	22	26231282	26231282	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:26231282G>T	ENST00000335473.7	+	17	3330	c.3080G>T	c.(3079-3081)gGa>gTa	p.G1027V	MYO18B_ENST00000407587.2_Missense_Mutation_p.G1028V|MYO18B_ENST00000536101.1_Missense_Mutation_p.G1027V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1027	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCAGCTGGAGGAGGTGCCCAG	0.577000													10	12					7.48243e-07	9.17677e-07	0.335167	1	0
BRCA2	675	broad.mit.edu	37	13	32914807	32914807	+	Silent	SNP	A	A	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:32914807A>C	ENST00000544455.1	+	11	6542	c.6315A>C	c.(6313-6315)atA>atC	p.I2105I	BRCA2_ENST00000380152.3_Silent_p.I2105I	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2105					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)		TATCAAAAATACTTCCTCGTG	0.333000			"""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)			10	20					0	0	0.361761	0	0
NFATC2	4773	broad.mit.edu	37	20	50139722	50139722	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:50139722C>A	ENST00000371564.3	-	2	1277	c.1058G>T	c.(1057-1059)gGg>gTg	p.G353V	NFATC2_ENST00000414705.1_Missense_Mutation_p.G333V|NFATC2_ENST00000396009.3_Missense_Mutation_p.G353V	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	353					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTCGCAGGGCCCCAGGAACTC	0.672000													8	36					0.00621372	0.00656153	0.335167	1	0
SEMA6A	57556	broad.mit.edu	37	5	115823880	115823880	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:115823880A>T	ENST00000343348.6	-	9	1455	c.668T>A	c.(667-669)gTt>gAt	p.V223D	CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.V223D|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.V223D|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	223	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CACGGCTTGAACAAAGTATGG	0.398000													12	7					0	0	0.479597	0	0
FAM78A	286336	broad.mit.edu	37	9	134136572	134136572	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:134136572G>A	ENST00000372271.3	-	2	856	c.489C>T	c.(487-489)taC>taT	p.Y163Y	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Silent_p.Y160Y	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	163										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGACGCTGGGGTAAAAGTTGT	0.582000													19	30					0	0	0.624587	0	0
SCN11A	11280	broad.mit.edu	37	3	38945445	38945445	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:38945445T>C	ENST00000302328.3	-	12	1951	c.1753A>G	c.(1753-1755)Atc>Gtc	p.I585V	SCN11A_ENST00000450244.1_Missense_Mutation_p.I585V|SCN11A_ENST00000444237.2_Missense_Mutation_p.I585V|SCN11A_ENST00000456224.3_Missense_Mutation_p.I585V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	585					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGATGCAGATGGTGATGGCC	0.473000													29	28					0	0	0.853193	0	0
GALNTL5	168391	broad.mit.edu	37	7	151664474	151664474	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:151664474C>A	ENST00000392800.2	+	2	397	c.143C>A	c.(142-144)cCt>cAt	p.P48H	GALNTL5_ENST00000431418.2_Missense_Mutation_p.P48H	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	48						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GCTTGGTCCCCTGGAAAAAAA	0.413000													14	31					1.99824e-07	2.51502e-07	0.520397	1	0
ZNF343	79175	broad.mit.edu	37	20	2464419	2464419	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:2464419G>A	ENST00000278772.4	-	6	1675	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GGTGTTTTCTGAGGGTTGACT	0.507000													22	52					0	0	0.654019	0	0
AOC3	8639	broad.mit.edu	37	17	41006663	41006663	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:41006663C>G	ENST00000308423.2	+	2	1959	c.1799C>G	c.(1798-1800)cCc>cGc	p.P600R	AOC3_ENST00000591562.1_Missense_Mutation_p.P57R	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	600					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TGGGGTCACCCCCGGGGCTAC	0.647000													10	22					0	0	0.479597	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768370	77768370	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:77768370A>G	ENST00000521891.2	+	10	9661	c.9213A>G	c.(9211-9213)tcA>tcG	p.S3071S	ZFHX4_ENST00000050961.6_Silent_p.S3026S|ZFHX4_ENST00000455469.2_Silent_p.S3026S|ZFHX4_ENST00000518282.1_Silent_p.S3045S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3026	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAAAGCTTCAGACGTGCTGG	0.577000										HNSCC(33;0.089)			30	65					0	0	0.769981	0	0
CNGA3	1261	broad.mit.edu	37	2	99012830	99012830	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:99012830G>T	ENST00000393504.1	+	8	1614	c.1197G>T	c.(1195-1197)gtG>gtT	p.V399V	CNGA3_ENST00000272602.2_Silent_p.V399V|CNGA3_ENST00000409937.1_Silent_p.V403V|CNGA3_ENST00000436404.2_Silent_p.V381V	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	399					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGGGCAATGTGGGCTCCATGA	0.507000													20	40					1.00905e-13	1.46051e-13	0.575678	1	0
SPRY3	10251	broad.mit.edu	37	X	155004223	155004223	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:155004223C>T	ENST00000302805.2	+	2	1121	c.690C>T	c.(688-690)ctC>ctT	p.L230L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	230	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)					TCATCTCCCTCTTCCTACCCT	0.587000													42	134					0	0	0.870114	0	0
ZNF536	9745	broad.mit.edu	37	19	30935770	30935770	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:30935770T>A	ENST00000355537.3	+	2	1448	c.1301T>A	c.(1300-1302)cTg>cAg	p.L434Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTCTCCTGCCTGCAGAGTGGC	0.652000													7	7					0	0	0.608945	0	0
CDK1	983	broad.mit.edu	37	10	62551691	62551691	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:62551691C>T	ENST00000448257.2	+	6	734	c.533C>T	c.(532-534)tCa>tTa	p.S178L	CDK1_ENST00000316629.4_Missense_Mutation_p.S121L|CDK1_ENST00000373809.2_Missense_Mutation_p.S121L|CDK1_ENST00000395284.3_Missense_Mutation_p.S178L			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	178	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|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|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1						TTGCTGGGGTCAGCTCGTTAC	0.373000													5	13					0	0	0.184627	0	0
CCDC136	64753	broad.mit.edu	37	7	128446872	128446872	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:128446872T>A	ENST00000297788.4	+	9	1746	c.1379T>A	c.(1378-1380)cTc>cAc	p.L460H	CCDC136_ENST00000487361.1_Missense_Mutation_p.L407H|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	460						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTGCAGCACCTCAGGGATACG	0.557000													10	22					0	0	0.387290	0	0
DDX54	79039	broad.mit.edu	37	12	113599744	113599744	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:113599744T>A	ENST00000314045.7	-	18	2281	c.2254A>T	c.(2254-2256)Aag>Tag	p.K752*	DDX54_ENST00000306014.5_Nonsense_Mutation_p.K752*	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	752					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTCTCTGTCTTAATCTTCTTC	0.607000													25	12					0	0	0.769981	0	0
AKR1B10	57016	broad.mit.edu	37	7	134223009	134223009	+	Missense_Mutation	SNP	C	C	A	rs142388608		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:134223009C>A	ENST00000359579.4	+	8	1125	c.805C>A	c.(805-807)Cgc>Agc	p.R269S		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	269					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GACACCAGCACGCATTGTTGA	0.532000													68	89					2.23399e-28	3.73593e-28	0.870114	1	0
CEP170P1	645455	broad.mit.edu	37	4	119461435	119461435	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:119461435C>A	ENST00000412784.2	+	0	332					NR_003135.2																						TTAGTTCATTCCAAAACACCA	0.443000													8	30					7.48243e-07	9.17677e-07	0.335167	1	0
OR4C46	119749	broad.mit.edu	37	11	51515606	51515606	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:51515606G>T	ENST00000328188.1	+	1	325	c.325G>T	c.(325-327)Gag>Tag	p.E109*		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CGGAGGTGCAGAGGGCATCCT	0.473000													42	40					4.0492e-12	5.70353e-12	0.827153	1	0
SNRNP200	23020	broad.mit.edu	37	2	96967309	96967309	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:96967309C>G	ENST00000323853.5	-	4	604	c.527G>C	c.(526-528)gGc>gCc	p.G176A	SNRNP200_ENST00000349783.5_Missense_Mutation_p.G176A	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	176						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GATCTTTTTGCCCAGGTTCAC	0.443000													27	149					0	0	0.717897	0	0
C1orf95	375057	broad.mit.edu	37	1	226784576	226784576	+	Silent	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:226784576C>G	ENST00000366789.4	+	2	381	c.276C>G	c.(274-276)gtC>gtG	p.V92V	C1orf95_ENST00000366788.3_Silent_p.V92V			Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	92						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		TGTGCTGCGTCTTCTGGCTGA	0.602000													17	35					0	0	0.520397	0	0
CLEC4E	26253	broad.mit.edu	37	12	8689842	8689842	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:8689842G>A	ENST00000299663.3	-	4	406	c.241C>T	c.(241-243)Cca>Tca	p.P81S	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	81						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					CAGTTCAATGGACAACAATTC	0.453000													17	69					0	0	0.592651	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134049	119134049	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:119134049G>C	ENST00000264245.4	+	12	3805	c.3273G>C	c.(3271-3273)aaG>aaC	p.K1091N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1091					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						TACAGCTAAAGAGCACAGAGT	0.562000													12	561					0	0	0.411799	0	0
RHBDL3	162494	broad.mit.edu	37	17	30632417	30632417	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:30632417G>C	ENST00000269051.4	+	7	853	c.839G>C	c.(838-840)gGg>gCg	p.G280A	RHBDL3_ENST00000536287.1_Missense_Mutation_p.G182A|RHBDL3_ENST00000538145.1_Missense_Mutation_p.G272A	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	280					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TCTTCTGGAGGGGTGTATGCT	0.567000													5	50					0	0	0.217242	0	0
COQ5	84274	broad.mit.edu	37	12	120960072	120960072	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:120960072G>C	ENST00000288532.6	-	2	337	c.297C>G	c.(295-297)ctC>ctG	p.L99L	COQ5_ENST00000445328.2_Silent_p.L99L	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	99					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCATCTTCCAGAGCAGCAAAT	0.453000													21	17					0	0	0.654019	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996386	140996386	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:140996386C>A	ENST00000285879.4	+	4	3482	c.3196C>A	c.(3196-3198)Cgt>Agt	p.R1066S	MAGEC1_ENST00000406005.2_Missense_Mutation_p.R133S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1066	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCTCCTCGTTACGAATT	0.493000										HNSCC(15;0.026)			47	144					1.65492e-34	2.84111e-34	0.870114	1	0
GPR123	84435	broad.mit.edu	37	10	134898421	134898421	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:134898421C>A	ENST00000607359.1	+	8	1483	c.1483C>A	c.(1483-1485)Cat>Aat	p.H495N				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTGGGTCCCTCATGGCCGCGT	0.597000													3	7					0.000602214	0.000658709	0.184627	1	0
TG	7038	broad.mit.edu	37	8	133995598	133995598	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:133995598C>G	ENST00000220616.4	+	35	6243	c.6203C>G	c.(6202-6204)gCt>gGt	p.A2068G	TG_ENST00000542445.1_Missense_Mutation_p.A438G|TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Missense_Mutation_p.A2011G|TG_ENST00000519543.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2068					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTTCAGTTGCTCAAAATAAT	0.388000													33	54					0	0	0.788014	0	0
BAI3	577	broad.mit.edu	37	6	69646435	69646435	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:69646435C>T	ENST00000370598.1	+	5	1714	c.893C>T	c.(892-894)tCc>tTc	p.S298F		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	298	TSP type-1 1.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAAGAGTGGTCCCAGTGGAGC	0.458000													4	9					0	0	0.150653	0	0
ADAR	103	broad.mit.edu	37	1	154574329	154574329	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:154574329G>A	ENST00000368474.4	-	2	988	c.789C>T	c.(787-789)gaC>gaT	p.D263D	ADAR_ENST00000292205.5_Silent_p.D306D|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	263					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGCTATGACTGTCTGGTCTTA	0.483000													53	252					0	0	0.870114	0	0
SHH	6469	broad.mit.edu	37	7	155604608	155604608	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:155604608G>T	ENST00000297261.2	-	1	359	c.209C>A	c.(208-210)tCc>tAc	p.S70Y		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	70					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAATCGCTCGGAGTTTCTGGA	0.502000													10	82					0.000442599	0.000487295	0.335167	1	0
ADCK1	57143	broad.mit.edu	37	14	78392145	78392145	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:78392145C>T	ENST00000238561.5	+	9	1146	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	ADCK1_ENST00000341211.5_Silent_p.L281L|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	356	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACTGCCACCTCTGGCAGTCTC	0.592000													21	124					0	0	0.654019	0	0
SQRDL	58472	broad.mit.edu	37	15	45962136	45962136	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:45962136G>T	ENST00000260324.7	+	4	802	c.416G>T	c.(415-417)cGa>cTa	p.R139L	RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.R139L|SQRDL_ENST00000568606.1_Missense_Mutation_p.R139L	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	139							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		ATCTCCTACCGATATCTTATT	0.448000													17	5					3.32936e-07	4.13156e-07	0.539581	1	0
CHRNA1	1134	broad.mit.edu	37	2	175622403	175622403	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:175622403G>T	ENST00000348749.5	-	4	312	c.234_splice	c.e4-1	p.Q79_splice	CHRNA1_ENST00000409219.1_Splice_Site_p.Q79_splice|CHRNA1_ENST00000409323.1_Splice_Site_p.Q79_splice|CHRNA1_ENST00000409542.1_Intron|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Splice_Site_p.Q104_splice	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	104					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TCCACCCATTGCTAGAAACAA	0.388000													14	13					2.32078e-09	3.05855e-09	0.479597	1	0
VCAN	1462	broad.mit.edu	37	5	82833747	82833747	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:82833747C>A	ENST00000265077.3	+	8	5490	c.4925C>A	c.(4924-4926)tCt>tAt	p.S1642Y	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.S655Y|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1642	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACAGAAGGCTCTGGAGAAGCA	0.418000													20	41					2.89027e-11	3.97767e-11	0.624587	1	0
LCE4A	199834	broad.mit.edu	37	1	152681593	152681593	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:152681593C>A	ENST00000368777.1	+	2	298	c.42C>A	c.(40-42)ccC>ccA	p.P14P	LCE4A_ENST00000335535.3_Silent_p.P14P			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	14	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			AGCCCCCTCCCAAGTGTCCTA	0.493000													27	168					9.17885e-22	1.47901e-21	0.779181	1	0
ATP1A3	478	broad.mit.edu	37	19	42489244	42489244	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:42489244G>T	ENST00000545399.1	-	8	1011	c.858C>A	c.(856-858)ccC>ccA	p.P286P	ATP1A3_ENST00000543770.1_Silent_p.P284P|ATP1A3_ENST00000602133.1_Silent_p.P243P|ATP1A3_ENST00000302102.5_Silent_p.P273P	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	273					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CGATGGCGATGGGCGTCTTGC	0.632000													4	30					8.12818e-05	9.19624e-05	0.248553	1	0
KCNB2	9312	broad.mit.edu	37	8	73849145	73849145	+	Missense_Mutation	SNP	G	G	A	rs149424569		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:73849145G>A	ENST00000523207.1	+	3	2143	c.1555G>A	c.(1555-1557)Gac>Aac	p.D519N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	519					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TAGCCAAAAAGACTCCCACGA	0.522000													75	66					0	0	0.870114	0	0
HTR2C	3358	broad.mit.edu	37	X	114141570	114141570	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:114141570G>A	ENST00000276198.1	+	6	1697	c.969G>A	c.(967-969)atG>atA	p.M323I	HTR2C_ENST00000371951.1_Missense_Mutation_p.M323I|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	323					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTCTGATCATGTGGTGCCCAT	0.408000													11	98					0	0	0.457914	0	0
SLA2	84174	broad.mit.edu	37	20	35261997	35261997	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:35261997G>C	ENST00000262866.4	-	4	649	c.227C>G	c.(226-228)tCa>tGa	p.S76*	SLA2_ENST00000360672.2_Nonsense_Mutation_p.S76*	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	76	SH3.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTCTCTGCCTGAGACTTCAGA	0.587000													8	27					0	0	0.387290	0	0
ULK2	9706	broad.mit.edu	37	17	19700851	19700851	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:19700851C>A	ENST00000395544.4	-	18	2166	c.1667G>T	c.(1666-1668)gGg>gTg	p.G556V	ULK2_ENST00000361658.2_Missense_Mutation_p.G556V	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	556					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTACCCAGCCCCAGTATGGGA	0.592000													12	7					1.99824e-07	2.51502e-07	0.520397	1	0
SYT10	341359	broad.mit.edu	37	12	33579212	33579212	+	Missense_Mutation	SNP	C	C	T	rs143923961		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:33579212C>T	ENST00000228567.3	-	2	666	c.370G>A	c.(370-372)Gta>Ata	p.V124I	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	124						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATAGCTTTTACGGCTGGCTTT	0.393000													21	59					0	0	0.592651	0	0
SYT13	57586	broad.mit.edu	37	11	45274052	45274052	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:45274052C>T	ENST00000020926.3	-	4	877	c.766G>A	c.(766-768)Ggg>Agg	p.G256R		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	256	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CGGAGCTCCCCGGCCACGCTG	0.682000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	36					0	0	0.847076	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27788039	27788039	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:27788039G>C	ENST00000318304.8	+	4	544	c.261G>C	c.(259-261)caG>caC	p.Q87H	PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.Q87H|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.Q87H|PPFIBP1_ENST00000545334.1_Missense_Mutation_p.Q87H|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.Q87H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	87					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AATGGCTTCAGAGTCAAATGG	0.393000													45	38					0	0	0.870114	0	0
GUCA1C	9626	broad.mit.edu	37	3	108627009	108627009	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:108627009C>A	ENST00000261047.3	-	4	622	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	GUCA1C_ENST00000393963.3_Missense_Mutation_p.G177V	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	164	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TCCAGGAGATCCTGATCTTTT	0.413000													13	60					1.5739e-10	2.13283e-10	0.500413	1	0
GPR101	83550	broad.mit.edu	37	X	136113762	136113762	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:136113762C>A	ENST00000298110.1	-	1	71	c.72G>T	c.(70-72)atG>atT	p.M24I		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	24						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGCTGATGGGCATTTTGGAGA	0.602000													31	39					1.90571e-15	2.85177e-15	0.796494	1	0
NSUN7	79730	broad.mit.edu	37	4	40752747	40752747	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:40752747G>A	ENST00000381782.2	+	2	532	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	NSUN7_ENST00000316607.5_Missense_Mutation_p.E13K	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GTTTTCGAACGAAGAAGATCC	0.557000													16	43					0	0	0.539581	0	0
IGKV6D-21	28870	broad.mit.edu	37	2	90060902	90060902	+	RNA	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:90060902C>T	ENST00000436451.2	+	0	316																											GGTTCAGTGGCAGTGGATCTG	0.502000													78	20					0	0	0.870114	0	0
RELN	5649	broad.mit.edu	37	7	103230224	103230224	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:103230224G>C	ENST00000428762.1	-	28	4123	c.3964C>G	c.(3964-3966)Cag>Gag	p.Q1322E	RELN_ENST00000343529.5_Missense_Mutation_p.Q1322E|RELN_ENST00000424685.2_Missense_Mutation_p.Q1322E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1322					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGAGAGTACTGAAGAAGAACT	0.428000													33	105					0	0	0.760397	0	0
PDZK1	5174	broad.mit.edu	37	1	145752463	145752463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:145752463C>T	ENST00000344770.2	+	4	569	c.496C>T	c.(496-498)Caa>Taa	p.Q166*	PDZK1_ENST00000417171.1_Nonsense_Mutation_p.Q166*|PDZK1_ENST00000451928.2_Intron	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	166	PDZ 2.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TATTACACCTCAAGGTGTGGC	0.463000													13	80					0	0	0.557998	0	0
TTC18	118491	broad.mit.edu	37	10	75059368	75059368	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:75059368G>A	ENST00000310715.3	-	14	1642	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Nonsense_Mutation_p.Q508*|TTC18_ENST00000394865.1_Nonsense_Mutation_p.Q508*	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	508							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTTGCCTTCTGAGCTCCTCCT	0.378000													9	29					0	0	0.411799	0	0
MGAT3	4248	broad.mit.edu	37	22	39883522	39883522	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:39883522C>T	ENST00000341184.6	+	2	385	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	57	Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.T57M(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCCCCGGTCACGCCCCAGGCC	0.657000													18	24					0	0	0.624587	0	0
PAGE2B	389860	broad.mit.edu	37	X	55103864	55103864	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:55103864G>T	ENST00000374971.1	+	4	278	c.226G>T	c.(226-228)Gct>Tct	p.A76S	PAGE2B_ENST00000374974.3_Missense_Mutation_p.A59S	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	76								p.A76S(1)		lung(3)	3						ACAGGAACTGGCTCTGCTTAA	0.403000													28	89					4.32679e-17	6.68324e-17	0.827153	1	0
ATP10A	57194	broad.mit.edu	37	15	25958899	25958899	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:25958899G>T	ENST00000356865.6	-	10	2377	c.2266C>A	c.(2266-2268)Ccg>Acg	p.P756T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	756					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCGGTAAGCGGGTGCCGGATC	0.612000													10	7					0.000978159	0.00106506	0.387290	1	0
MGAT4C	25834	broad.mit.edu	37	12	86377322	86377322	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:86377322C>A	ENST00000604798.1	-	7	1478	c.274G>T	c.(274-276)Gcc>Tcc	p.A92S	MGAT4C_ENST00000549405.2_Missense_Mutation_p.A92S|MGAT4C_ENST00000332156.1_Missense_Mutation_p.A92S|MGAT4C_ENST00000393205.2_Missense_Mutation_p.A121S|MGAT4C_ENST00000552435.2_Missense_Mutation_p.A92S|MGAT4C_ENST00000552808.2_Missense_Mutation_p.A92S|MGAT4C_ENST00000548651.1_Missense_Mutation_p.A92S			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	92					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAAGGTGTGGCAGCTAGGTAG	0.313000													11	28					8.28177e-16	1.24933e-15	0.557998	1	0
LMX1A	4009	broad.mit.edu	37	1	165322458	165322458	+	Missense_Mutation	SNP	G	G	A	rs139738225		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:165322458G>A	ENST00000342310.3	-	3	500	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	LMX1A_ENST00000367893.4_Missense_Mutation_p.R40W|LMX1A_ENST00000294816.2_Missense_Mutation_p.R40W	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	40	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AAGATGACCCGCTGACAGCCC	0.627000													4	18					0	0	0.150653	0	0
DBF4B	80174	broad.mit.edu	37	17	42815766	42815766	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:42815766G>T	ENST00000315005.3	+	9	825	c.687G>T	c.(685-687)ccG>ccT	p.P229P	DBF4B_ENST00000398338.3_3'UTR|DBF4B_ENST00000393547.2_Silent_p.P229P	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	229					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGAAGGCCCCGTTCCTCAAAA	0.577000													17	60					7.45023e-12	1.04241e-11	0.592651	1	0
RNF4	6047	broad.mit.edu	37	4	2515395	2515395	+	Splice_Site	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:2515395A>G	ENST00000511600.1	+	8	1938		c.e8-1		RNF4_ENST00000314289.8_Splice_Site|RNF4_ENST00000511859.1_Splice_Site|RNF4_ENST00000506706.1_Splice_Site|RNF4_ENST00000541204.1_Splice_Site			P78317	RNF4_HUMAN	ring finger protein 4						androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				AATGCCTTCTAGATCGTGCAG	0.498000													24	27					0	0	0.667858	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004415	102004415	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:102004415G>C	ENST00000372735.1	+	4	1077	c.492G>C	c.(490-492)ggG>ggC	p.G164G	BHLHB9_ENST00000448867.1_Silent_p.G164G|BHLHB9_ENST00000361229.4_Silent_p.G164G|BHLHB9_ENST00000457056.1_Silent_p.G164G|BHLHB9_ENST00000447531.1_Silent_p.G164G			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	164						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTAGGTCAGGGGCTGAGGAGG	0.478000													48	140					0	0	0.870114	0	0
SETBP1	26040	broad.mit.edu	37	18	42643106	42643106	+	Silent	SNP	C	C	A	rs145996171	byFrequency	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:42643106C>A	ENST00000282030.5	+	6	4530	c.4234C>A	c.(4234-4236)Cgg>Agg	p.R1412R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1412						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTGCGAAGTGCGGAAGATGTG	0.532000									Schinzel-Giedion syndrome				4	21					0.150653	0.152838	0.150653	1	0
CSMD3	114788	broad.mit.edu	37	8	113253960	113253960	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:113253960G>C	ENST00000297405.5	-	66	10701	c.10457C>G	c.(10456-10458)cCa>cGa	p.P3486R	CSMD3_ENST00000343508.3_Missense_Mutation_p.P3446R|CSMD3_ENST00000352409.3_Missense_Mutation_p.P3416R|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3317R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3486						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						ACTTAGCTTTGGGCTGGGTGT	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			38	30					0	0	0.840704	0	0
IL2RG	3561	broad.mit.edu	37	X	70327594	70327594	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:70327594C>T	ENST00000374202.2	-	8	1193	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	IL2RG_ENST00000374188.3_Missense_Mutation_p.E97K|IL2RG_ENST00000456850.2_Missense_Mutation_p.E178K	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	368					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GTTCAGGTTTCAGGCTTTAGG	0.577000									Severe Combined Immunodeficiency, X-linked				4	48					0	0	0.150653	0	0
MTUS2	23281	broad.mit.edu	37	13	29855846	29855846	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:29855846A>T	ENST00000431530.3	+	4	2738	c.2680A>T	c.(2680-2682)Acc>Tcc	p.T894S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	884	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CACAGGTTCAACCTTTGGGAA	0.532000													5	11					0	0	0.217242	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339187	13339187	+	RNA	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:13339187C>A	ENST00000602906.1	+	0	862																				kidney(3)|lung(1)	4						GTGTGTTCATCAGGGACAGCT	0.438000													23	38					0.0165216	0.0172083	0.639603	1	0
DUSP27	92235	broad.mit.edu	37	1	167097132	167097132	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:167097132G>T	ENST00000361200.2	+	6	2930	c.2764G>T	c.(2764-2766)Gca>Tca	p.A922S	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.A922S|DUSP27_ENST00000271385.5_Missense_Mutation_p.A922S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	922	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGATCACTATGCAAGTGGCAG	0.498000													20	70					5.45024e-15	8.09103e-15	0.654019	1	0
OR52R1	119695	broad.mit.edu	37	11	4825412	4825412	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:4825412C>T	ENST00000380382.1	-	1	435	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	OR52R1_ENST00000356069.2_Missense_Mutation_p.A67T|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCAGCATGGCCAGAAAGAGG	0.498000													13	42					0	0	0.435327	0	0
PAIP2B	400961	broad.mit.edu	37	2	71415647	71415647	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:71415647G>T	ENST00000244221.8	-	4	500	c.334C>A	c.(334-336)Cca>Aca	p.P112T		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	112					negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding			large_intestine(1)|lung(1)	2						TTGGCATCTGGGTTCAGGTTA	0.418000													12	12					1.61879e-10	2.18837e-10	0.411799	1	0
PROC	5624	broad.mit.edu	37	2	128186270	128186270	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:128186270C>T	ENST00000453608.2	+	8	1307	c.1299C>T	c.(1297-1299)agC>agT	p.S433S	PROC_ENST00000422777.3_Silent_p.S378S|PROC_ENST00000234071.3_Silent_p.S378S|PROC_ENST00000409048.1_Silent_p.S412S			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	378	Peptidase S1.		G -> S (in patients with PROC deficiency; Purmerend).		blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGGTCATGAGCAACATGGTGT	0.612000													57	32					0	0	0.870114	0	0
KIF14	9928	broad.mit.edu	37	1	200522786	200522786	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:200522786A>G	ENST00000367350.4	-	30	5115	c.4677T>C	c.(4675-4677)taT>taC	p.Y1559Y		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1559	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTCTACTCTCATAGCTGCCAA	0.403000													15	42					0	0	0.479597	0	0
SPINK2	6691	broad.mit.edu	37	4	57686702	57686702	+	Splice_Site	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:57686702C>G	ENST00000506738.1	-	2	328	c.249_splice	c.e2+1	p.T83_splice	SPINK2_ENST00000504762.1_Splice_Site_p.T68_splice|SPINK2_ENST00000248701.4_Splice_Site_p.T33_splice	NM_001271718.1	NP_001258647.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	33	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					TGCTACTTACCGTTCTATATT	0.408000													8	36					0	0	0.335167	0	0
BMP15	9210	broad.mit.edu	37	X	50659413	50659413	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:50659413C>T	ENST00000252677.3	+	2	985	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	329					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCGAGTACTACGCGATGGTCT	0.507000													62	85					0	0	0.870114	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736567	140736567	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:140736567G>C	ENST00000571252.1	+	1	1800	c.1800G>C	c.(1798-1800)caG>caC	p.Q600H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCAGGTCAGAATGCCTGGC	0.632000													23	27					0	0	0.639603	0	0
ZNF711	7552	broad.mit.edu	37	X	84525120	84525120	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:84525120G>C	ENST00000360700.4	+	9	2100	c.1214G>C	c.(1213-1215)aGg>aCg	p.R405T	ZNF711_ENST00000373165.3_Missense_Mutation_p.R359T|ZNF711_ENST00000542798.1_Missense_Mutation_p.R201T|ZNF711_ENST00000395402.1_Missense_Mutation_p.R367T|ZNF711_ENST00000276123.3_Missense_Mutation_p.R359T			Q9Y462	ZN711_HUMAN	zinc finger protein 711	359					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GCCAAAAAGAGGAGAAGGGGA	0.348000													14	39					0	0	0.479597	0	0
CSMD1	64478	broad.mit.edu	37	8	3855503	3855503	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:3855503G>A	ENST00000602557.1	-	5	1295	c.740C>T	c.(739-741)gCg>gTg	p.A247V	CSMD1_ENST00000542608.1_Missense_Mutation_p.A247V|CSMD1_ENST00000539096.1_Missense_Mutation_p.A247V|CSMD1_ENST00000537824.1_Missense_Mutation_p.A247V|CSMD1_ENST00000602723.1_Missense_Mutation_p.A247V|CSMD1_ENST00000400186.3_Missense_Mutation_p.A247V|CSMD1_ENST00000520002.1_Missense_Mutation_p.A247V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	247	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAAGACCAGCGCAATGGTGTC	0.552000													6	6					0	0	0.248553	0	0
SGTA	6449	broad.mit.edu	37	19	2757423	2757423	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:2757423T>C	ENST00000221566.2	-	11	1021	c.860A>G	c.(859-861)cAg>cGg	p.Q287R		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	287	Gln-rich.				interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		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)		CTCTGGGTTCTGCTGCTGCAT	0.662000													3	8					0	0	0.150653	0	0
TTN	7273	broad.mit.edu	37	2	179454078	179454078	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:179454078C>A	ENST00000589042.1	-	304	62598	c.62374G>T	c.(62374-62376)Ggg>Tgg	p.G20792W	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11852W|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G19151W|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18224W|TTN_ENST00000342175.6_Missense_Mutation_p.G11919W|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11727W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19151	Fibronectin type-III 50.						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)			CCTCTAACCCCTGCCTCAAGC	0.458000													29	35					2.70662e-09	3.55588e-09	0.740014	1	0
BMP7	655	broad.mit.edu	37	20	55758869	55758869	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:55758869G>T	ENST00000395863.3	-	4	1372	c.867C>A	c.(865-867)cgC>cgA	p.R289R	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Silent_p.R289R	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	289					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ACCGGATGCTGCGGAAGTGGA	0.627000													6	15					5.9392e-07	7.31615e-07	0.217242	1	0
WDR64	128025	broad.mit.edu	37	1	241901785	241901785	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:241901785A>G	ENST00000366552.2	+	10	1492	c.1285A>G	c.(1285-1287)Att>Gtt	p.I429V	WDR64_ENST00000437684.2_Missense_Mutation_p.I429V	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	429										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGGCATGCTTATTACGGGTAA	0.373000													19	20					0	0	0.592651	0	0
PRSS53	339105	broad.mit.edu	37	16	31096568	31096568	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:31096568C>G	ENST00000280606.6	-	7	1050	c.897G>C	c.(895-897)ttG>ttC	p.L299F		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	299	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CTGCTGTCCTCAAGGATCCAC	0.562000													4	4					0	0	0.150653	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427131	38427131	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:38427131C>T	ENST00000322350.5	+	14	2177	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	EGFLAM_ENST00000336740.6_Nonsense_Mutation_p.Q377*|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000354891.3_Nonsense_Mutation_p.Q611*|EGFLAM-AS1_ENST00000508986.1_RNA	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	611	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACCATTCCTCAGTTCAGAGA	0.488000													107	64					0	0	0.870114	0	0
OR4C15	81309	broad.mit.edu	37	11	55322043	55322043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:55322043C>A	ENST00000314644.2	+	1	261	c.261C>A	c.(259-261)taC>taA	p.Y87*		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTTTGTCTACATTGCAACTG	0.418000										HNSCC(20;0.049)			44	178					2.68985e-26	4.44077e-26	0.870114	1	0
ZSCAN31	64288	broad.mit.edu	37	6	28294414	28294414	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:28294414C>G	ENST00000414429.1	-	8	1653	c.750G>C	c.(748-750)aaG>aaC	p.K250N	ZSCAN31_ENST00000396838.2_Missense_Mutation_p.K250N|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.K250N|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.K250N|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.K91N|ZSCAN31_ENST00000481934.1_5'UTR					zinc finger and SCAN domain containing 31																		GTACTGAACTCTTAGTGAAGC	0.493000													6	70					0	0	0.217242	0	0
RGS18	64407	broad.mit.edu	37	1	192153462	192153462	+	Silent	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:192153462A>T	ENST00000367460.3	+	5	667	c.486A>T	c.(484-486)acA>acT	p.T162T		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	162	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGTCATTACAAACAGCATCA	0.353000													8	54					0	0	0.307466	0	0
IFNA17	3451	broad.mit.edu	37	9	21227742	21227742	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:21227742C>T	ENST00000413767.2	-	1	479	c.431G>A	c.(430-432)aGg>aAg	p.R144K		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	144					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GAAGTATTTCCTCACAGCCAG	0.448000													138	103					0	0	0.870114	0	0
CXorf22	170063	broad.mit.edu	37	X	35990041	35990041	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:35990041G>T	ENST00000297866.5	+	13	2279	c.2213G>T	c.(2212-2214)aGc>aTc	p.S738I		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	738										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CATGATTGCAGCTTAATGTTG	0.289000													3	9					0.004672	0.00495846	0.115264	1	0
MORF4L1	10933	broad.mit.edu	37	15	79189395	79189395	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:79189395C>G	ENST00000331268.5	+	13	1279	c.1075C>G	c.(1075-1077)Cgg>Ggg	p.R359G	MORF4L1_ENST00000558502.1_Missense_Mutation_p.R232G|MORF4L1_ENST00000426013.2_Missense_Mutation_p.R320G|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000559345.1_Missense_Mutation_p.R232G|MORF4L1_ENST00000379535.4_Missense_Mutation_p.R345G	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	359					double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TGAGTACCATCGGAAAGCTGT	0.383000													18	6					0	0	0.624587	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95111309	95111309	+	RNA	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:95111309C>T	ENST00000469935.1	+	0	1129					NR_015340.1																						TCGATTTCCACTTCCCCAAAT	0.537000													5	28					0	0	0.248553	0	0
NPAS3	64067	broad.mit.edu	37	14	34268993	34268993	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:34268993G>A	ENST00000346562.2	+	11	1458	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	NPAS3_ENST00000357798.5_Missense_Mutation_p.E481K|NPAS3_ENST00000356141.4_Missense_Mutation_p.E494K|NPAS3_ENST00000548645.1_Missense_Mutation_p.E464K|NPAS3_ENST00000551492.1_Missense_Mutation_p.E499K	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CGAGAACAGCGAAGACCCGGA	0.652000													4	12					0	0	0.217242	0	0
ROBO2	6092	broad.mit.edu	37	3	77623727	77623727	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:77623727G>A	ENST00000461745.1	+	14	2949	c.2049G>A	c.(2047-2049)tcG>tcA	p.S683S	ROBO2_ENST00000487694.3_Silent_p.S699S|ROBO2_ENST00000332191.8_Silent_p.S683S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	683	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGACATCTTCGTGGCAGAATT	0.448000													5	28					0	0	0.184627	0	0
OR2W3	343171	broad.mit.edu	37	1	248059203	248059203	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:248059203G>T	ENST00000537741.1	+	3	572	c.315G>T	c.(313-315)ctG>ctT	p.L105L	OR2W3_ENST00000360358.3_Silent_p.L105L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCTGTTCCTGGGTCTGGGTG	0.557000													4	54					3.59834e-05	4.14376e-05	0.217242	1	0
MID2	11043	broad.mit.edu	37	X	107169511	107169511	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:107169511G>T	ENST00000262843.6	+	9	2333	c.1785G>T	c.(1783-1785)gtG>gtT	p.V595V	MID2_ENST00000443968.2_Silent_p.V565V|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	595	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ATTGGGAGGTGGTCATGGGTT	0.468000													9	26					2.4624e-09	3.23756e-09	0.575678	1	0
PCDH17	27253	broad.mit.edu	37	13	58208528	58208528	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:58208528C>A	ENST00000377918.3	+	1	1874	c.1848C>A	c.(1846-1848)gaC>gaA	p.D616E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	616	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TAGACAGCGACTTCGGCGAGA	0.667000													6	22					0.000157383	0.000176164	0.278610	1	0
SMC1A	8243	broad.mit.edu	37	X	53423251	53423251	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:53423251C>G	ENST00000322213.4	-	18	2885	c.2758G>C	c.(2758-2760)Gaa>Caa	p.E920Q		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	920					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CGCTTCTGTTCAAGCTTGGTC	0.498000													25	106					0	0	0.717897	0	0
UTRN	7402	broad.mit.edu	37	6	145021222	145021222	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:145021222G>T	ENST00000367545.3	+	52	7652		c.e52-1		UTRN_ENST00000367526.4_Splice_Site	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						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)		TCTCTCAACAGGGCCCATTTG	0.353000													11	4					0.010729	0.0112307	0.387290	1	0
MYO18B	84700	broad.mit.edu	37	22	26231281	26231281	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:26231281G>A	ENST00000335473.7	+	17	3329	c.3079G>A	c.(3079-3081)Gga>Aga	p.G1027R	MYO18B_ENST00000407587.2_Missense_Mutation_p.G1028R|MYO18B_ENST00000536101.1_Missense_Mutation_p.G1027R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1027	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACCAGCTGGAGGAGGTGCCCA	0.577000													10	13					0	0	0.335167	0	0
ATP1A3	478	broad.mit.edu	37	19	42473061	42473061	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:42473061C>G	ENST00000545399.1	-	20	2887	c.2734G>C	c.(2734-2736)Gag>Cag	p.E912Q	ATP1A3_ENST00000543770.1_Missense_Mutation_p.E910Q|ATP1A3_ENST00000602133.1_Missense_Mutation_p.E869Q|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E899Q	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	899					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TTCCTCTGCTCGTATGTCTGC	0.622000													31	21					0	0	0.760397	0	0
OR52E4	390081	broad.mit.edu	37	11	5906234	5906234	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:5906234G>T	ENST00000316987.2	+	1	734	c.712G>T	c.(712-714)Gcc>Tcc	p.A238S		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGACTAAAGGCCTTCAATAC	0.398000													38	34					9.85913e-13	1.40522e-12	0.847076	1	0
USH2A	7399	broad.mit.edu	37	1	216246634	216246634	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:216246634C>A	ENST00000366943.2	-	28	5967	c.5581G>T	c.(5581-5583)Ggt>Tgt	p.G1861C	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1861C|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1861	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCATGCAACCACCGAAACCT	0.433000										HNSCC(13;0.011)			6	30					8.12818e-05	9.19624e-05	0.248553	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125530474	125530474	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:125530474G>A	ENST00000431078.1	+	17	2993	c.2629G>A	c.(2629-2631)Gtc>Atc	p.V877I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	877	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATGGCACTATGTCCGGGCTGA	0.547000													32	125					0	0	0.769981	0	0
PTEN	5728	broad.mit.edu	37	10	89720851	89720851	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:89720851C>G	ENST00000371953.3	+	8	2359	c.1002C>G	c.(1000-1002)aaC>aaG	p.N334K	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	334	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.R335*(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACAAAGCCAACCGATACTTTT	0.333000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			29	55					0	0	0.717897	0	0
EBF1	1879	broad.mit.edu	37	5	158250217	158250217	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:158250217G>T	ENST00000313708.6	-	8	1027	c.745C>A	c.(745-747)Ccc>Acc	p.P249T	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.P226T|EBF1_ENST00000517373.1_Missense_Mutation_p.P249T	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	249					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTCCGAGGGGTCAAGCCTC	0.463000			T	HMGA2	lipoma								9	25					4.3838e-07	5.41604e-07	0.435327	1	0
DENND2A	27147	broad.mit.edu	37	7	140301825	140301825	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:140301825C>G	ENST00000275884.6	-	2	790	c.373G>C	c.(373-375)Ggg>Cgg	p.G125R	DENND2A_ENST00000496613.1_Missense_Mutation_p.G125R|DENND2A_ENST00000492720.1_Missense_Mutation_p.G125R|DENND2A_ENST00000537639.1_Missense_Mutation_p.G125R			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	125										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					AGGTCTTGCCCCGGCTCTGGG	0.582000													24	109					0	0	0.760397	0	0
ARPC1A	10552	broad.mit.edu	37	7	98951633	98951633	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:98951633G>T	ENST00000432884.2	+	8	922	c.461G>T	c.(460-462)aGt>aTt	p.S154I	ARPC1A_ENST00000471960.1_3'UTR|ARPC1A_ENST00000262942.5_Missense_Mutation_p.S201I			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	201					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TTTGGTGGCAGTGGCACTGGT	0.587000													14	17					2.35188e-11	3.25005e-11	0.539581	1	0
OPN1LW	5956	broad.mit.edu	37	X	153421947	153421947	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:153421947C>A	ENST00000369951.4	+	5	983	c.923C>A	c.(922-924)gCc>gAc	p.A308D		NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	308					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCTGCCGGCCTACTTTGCC	0.527000													58	297					3.28615e-30	5.56195e-30	0.870114	1	0
ABCA1	19	broad.mit.edu	37	9	107607837	107607837	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:107607837G>A	ENST00000374736.3	-	8	1128	c.734C>T	c.(733-735)tCt>tTt	p.S245F		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	245					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGGAGATGTAGAGTTTAGTGT	0.398000													8	7					0	0	0.278610	0	0
KCNB1	3745	broad.mit.edu	37	20	47990218	47990218	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:47990218G>T	ENST00000371741.4	-	2	2045	c.1879C>A	c.(1879-1881)Cgg>Agg	p.R627R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	627					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R627W(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGAGCTCCCCGCCAGCCCACT	0.612000													5	21					2.17888e-05	2.53875e-05	0.335167	1	0
CXCL11	6373	broad.mit.edu	37	4	76957126	76957126	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:76957126G>A	ENST00000306621.3	-	1	224	c.15C>T	c.(13-15)ggC>ggT	p.G5G	CXCL11_ENST00000503860.1_Silent_p.G5G|ART3_ENST00000341029.5_Intron	NM_005409.4	NP_005400.1	O14625	CXL11_HUMAN	chemokine (C-X-C motif) ligand 11	5					cell-cell signaling|chemotaxis|inflammatory response|signal transduction	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTATAGCCATGCCCTTCACAC	0.408000													8	29					0	0	0.387290	0	0
RIMBP3B	440804	broad.mit.edu	37	22	21742777	21742777	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:21742777G>C	ENST00000434111.1	+	1	5115	c.4630G>C	c.(4630-4632)Gag>Cag	p.E1544Q		NM_001128635.1	NP_001122107.1			RIMS binding protein 3B																		GGCCCACCTCGAGGACTTTCA	0.627000													4	19					0	0	0.184627	0	0
FMO1	2326	broad.mit.edu	37	1	171251350	171251350	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:171251350A>C	ENST00000354841.4	+	6	1192	c.1061A>C	c.(1060-1062)aAg>aCg	p.K354T	FMO1_ENST00000367750.3_Missense_Mutation_p.K354T|FMO1_ENST00000402921.2_Missense_Mutation_p.K291T|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	354					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCACTGTACAAGTATATCTTC	0.473000													16	91					0	0	0.520397	0	0
SKOR1	390598	broad.mit.edu	37	15	68118621	68118621	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:68118621G>C	ENST00000380035.2	+	2	513	c.455G>C	c.(454-456)gGc>gCc	p.G152A	SKOR1_ENST00000389002.1_Missense_Mutation_p.G143A|SKOR1_ENST00000554054.1_Missense_Mutation_p.G124A|SKOR1_ENST00000554240.1_Missense_Mutation_p.G113A|SKOR1_ENST00000341418.5_Missense_Mutation_p.G338A			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	152					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGCCGCTGCGGCATGATCACT	0.662000													12	1					0	0	0.411799	0	0
HVCN1	84329	broad.mit.edu	37	12	111088062	111088062	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:111088062G>T	ENST00000356742.5	-	6	1420	c.667C>A	c.(667-669)Cgt>Agt	p.R223S	HVCN1_ENST00000242607.8_Missense_Mutation_p.R223S|HVCN1_ENST00000548312.1_Missense_Mutation_p.R223S|HVCN1_ENST00000439744.2_Missense_Mutation_p.R203S			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	223					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CGTTCTGAACGTGTCTTAACT	0.398000													19	12					5.03518e-11	6.91257e-11	0.557998	1	0
ZNF695	57116	broad.mit.edu	37	1	247163260	247163260	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:247163260C>T	ENST00000339986.7	-	2	267	c.120G>A	c.(118-120)ctG>ctA	p.L40L	ZNF695_ENST00000487338.2_Silent_p.L40L|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	40	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.L40L(1)		endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CAAGGGAGATCAGGTTTCTGT	0.433000													21	79					0	0	0.654019	0	0
GTF3C5	9328	broad.mit.edu	37	9	135933286	135933286	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:135933286G>A	ENST00000372097.5	+	11	1802	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	GTF3C5_ENST00000342018.8_Silent_p.E431E|GTF3C5_ENST00000372108.5_Silent_p.E500E|GTF3C5_ENST00000372099.6_Silent_p.E484E	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	493	Glu-rich.|Poly-Glu.					transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		atgaggaggaggaggaagagg	0.587000													10	14					0	0	0.361761	0	0
SOX4	6659	broad.mit.edu	37	6	21596142	21596142	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:21596142G>T	ENST00000244745.1	+	1	2171	c.1377G>T	c.(1375-1377)tcG>tcT	p.S459S	SOX4_ENST00000543472.1_Silent_p.S459S	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	459					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			AGATGATCTCGGGAGACTGGC	0.622000													3	3					0.000602214	0.000658709	0.184627	1	0
AADACL3	126767	broad.mit.edu	37	1	12785336	12785336	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:12785336C>A	ENST00000332530.3	+	3	442	c.216C>A	c.(214-216)gcC>gcA	p.A72A	AADACL3_ENST00000359318.5_Silent_p.A142A	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	142							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAATAGCCGCAGTGGTTT	0.567000													54	38					2.44813e-32	4.16878e-32	0.870114	1	0
RPRD1B	58490	broad.mit.edu	37	20	36676823	36676823	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:36676823G>T	ENST00000373433.4	+	3	757	c.355G>T	c.(355-357)Ggc>Tgc	p.G119C		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	119	CID.									endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TGTGTATGGCGGCGAGTTCAT	0.458000													27	16					2.54651e-27	4.22907e-27	0.827153	1	0
SCN1B	6324	broad.mit.edu	37	19	35523499	35523499	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:35523499C>A	ENST00000262631.5	+	2	245	c.108C>A	c.(106-108)ttC>ttA	p.F36L	SCN1B_ENST00000415950.3_Missense_Mutation_p.F36L|SCN1B_ENST00000595652.1_Missense_Mutation_p.F36L|SCN1B_ENST00000596348.1_3'UTR	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	36	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGATGACCTTCAAAATTCTTT	0.612000													24	92					3.7963e-18	5.9128e-18	0.654019	1	0
MDGA2	161357	broad.mit.edu	37	14	47426612	47426612	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:47426612T>C	ENST00000426342.1	-	9	1906	c.1160A>G	c.(1159-1161)gAa>gGa	p.E387G	MDGA2_ENST00000439988.2_Missense_Mutation_p.E616G|MDGA2_ENST00000357362.3_Missense_Mutation_p.E387G|MDGA2_ENST00000399232.2_Missense_Mutation_p.E685G	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	616	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AGCTCCAGCTTCATTTATGAT	0.378000													23	22					0	0	0.654019	0	0
ZSWIM6	57688	broad.mit.edu	37	5	60835527	60835527	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:60835527C>G	ENST00000252744.5	+	12	2644	c.2644C>G	c.(2644-2646)Ctc>Gtc	p.L882V		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	882							zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						AATAGCAACTCTCATGGACAG	0.448000													2	1					0	0	0.115264	0	0
R3HDM1	23518	broad.mit.edu	37	2	136393668	136393668	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:136393668G>A	ENST00000264160.4	+	11	1188	c.818G>A	c.(817-819)cGt>cAt	p.R273H	R3HDM1_ENST00000409606.1_Missense_Mutation_p.R273H|R3HDM1_ENST00000329971.3_Missense_Mutation_p.R229H|R3HDM1_ENST00000409478.1_Missense_Mutation_p.R229H|R3HDM1_ENST00000410054.1_Missense_Mutation_p.R217H	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	273							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)		ATGAGAATACGTTTGAAAGAT	0.353000													6	52					0	0	0.248553	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596217	48596217	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:48596217T>C	ENST00000310248.2	-	1	953	c.859A>G	c.(859-861)Aac>Gac	p.N287D		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						ATGATGGGGTTGCACATGGGG	0.507000													4	122					0	0	0.184627	0	0
UBR2	23304	broad.mit.edu	37	6	42600415	42600415	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:42600415C>T	ENST00000372901.1	+	12	1665	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	UBR2_ENST00000372899.1_Silent_p.F469F|UBR2_ENST00000372883.3_5'UTR			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	469					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TACAAGCCTTCAAATTTAGGA	0.318000													4	30					0	0	0.278610	0	0
CACNA1S	779	broad.mit.edu	37	1	201030581	201030581	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:201030581G>T	ENST00000362061.3	-	25	3295	c.3069C>A	c.(3067-3069)gcC>gcA	p.A1023A	CACNA1S_ENST00000367338.3_Silent_p.A1023A	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1023	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGAGTCTATGGCCTTGTACA	0.542000													10	25					5.01169e-05	5.74378e-05	0.520397	1	0
OR51T1	401665	broad.mit.edu	37	11	4903203	4903203	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:4903203C>T	ENST00000380378.1	+	1	155	c.155C>T	c.(154-156)gCt>gTt	p.A52V	OR51T1_ENST00000322049.1_Missense_Mutation_p.A25V|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGAATGTGCTCATGTCTGG	0.463000													58	134					0	0	0.870114	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6377597	6377597	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:6377597C>T	ENST00000335585.5	-	4	419	c.396G>A	c.(394-396)ctG>ctA	p.L132L	PPP2R2C_ENST00000507294.1_Silent_p.L125L|PPP2R2C_ENST00000515571.1_Silent_p.L115L|PPP2R2C_ENST00000506140.1_Silent_p.L125L|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000382599.4_Silent_p.L132L	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	132					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTTCATCCTTCAGGTTGTATC	0.443000													30	95					0	0	0.760397	0	0
DNAJB4	11080	broad.mit.edu	37	1	78478905	78478905	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:78478905G>T	ENST00000370763.5	+	2	639	c.382G>T	c.(382-384)Gat>Tat	p.D128Y	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	128					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						AATGGAAATAGATGGTGATCC	0.438000													23	77					8.24728e-16	1.24637e-15	0.681144	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28307047	28307047	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr21:28307047G>A	ENST00000284987.5	-	4	1548	c.1427C>T	c.(1426-1428)cCa>cTa	p.P476L	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	476	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTGCTTTCGTGGTAGGTCCAG	0.498000													27	9					0	0	0.706142	0	0
SHANK2	22941	broad.mit.edu	37	11	70507701	70507701	+	Splice_Site	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:70507701C>A	ENST00000338508.4	-	22	1938	c.1939_splice	c.e22+1	p.A647_splice	SHANK2_ENST00000449116.2_Splice_Site_p.A58_splice|SHANK2_ENST00000409530.1_Splice_Site_p.A57_splice|SHANK2_ENST00000409161.1_Splice_Site_p.A57_splice|SHANK2_ENST00000357171.3_Splice_Site_p.A58_splice|SHANK2_ENST00000449833.2_Splice_Site_p.A58_splice|SHANK2_ENST00000423696.2_Splice_Site_p.A267_splice			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	267					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTGCTCTTACCTTTGGCCCCT	0.493000													20	18					8.34094e-07	1.01925e-06	0.575678	1	0
SLC25A24	29957	broad.mit.edu	37	1	108697721	108697721	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:108697721C>G	ENST00000565488.1	-	6	925	c.706G>C	c.(706-708)Ggt>Cgt	p.G236R	SLC25A24_ENST00000370041.4_Missense_Mutation_p.G217R	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	236					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CGAAAGCCACCAAATATGTTC	0.368000													10	23					0	0	0.335167	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42392153	42392153	+	Translation_Start_Site	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:42392153G>A	ENST00000599846.1	+	0	125				ARHGEF1_ENST00000378152.4_Silent_p.E15E|ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000354532.3_De_novo_Start_InFrame|ARHGEF1_ENST00000347545.4_De_novo_Start_InFrame|ARHGEF1_ENST00000337665.4_Silent_p.E15E			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1						cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGCCCAGGGAGATGGAAGACT	0.657000													14	16					0	0	0.479597	0	0
UBE3C	9690	broad.mit.edu	37	7	156974947	156974947	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:156974947A>G	ENST00000348165.5	+	8	1276	c.916A>G	c.(916-918)Agt>Ggt	p.S306G	UBE3C_ENST00000389103.4_Missense_Mutation_p.S263G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	306					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTTAATAGAGAGTAGATGTTC	0.393000													22	38					0	0	0.624587	0	0
SYNGR1	9145	broad.mit.edu	37	22	39777783	39777783	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:39777783G>T	ENST00000328933.5	+	4	581	c.566G>T	c.(565-567)aGc>aTc	p.S189I		NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					ATGGACCCCAGCCAGGACTCC	0.687000													8	7					3.09899e-07	3.85708e-07	0.307466	1	0
KLHL34	257240	broad.mit.edu	37	X	21674276	21674276	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:21674276T>C	ENST00000379499.2	-	1	2172	c.1631A>G	c.(1630-1632)tAc>tGc	p.Y544C		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	544										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCCGGGGTCGTAGCGCTCGAT	0.667000													3	7					0	0	0.150653	0	0
STXBP6	29091	broad.mit.edu	37	14	25288401	25288401	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:25288401C>A	ENST00000548369.1	-	1	282	c.145G>T	c.(145-147)Gga>Tga	p.G49*	STXBP6_ENST00000550887.1_Splice_Site|STXBP6_ENST00000548724.1_Splice_Site|STXBP6_ENST00000546511.1_Splice_Site|STXBP6_ENST00000396700.1_Splice_Site|STXBP6_ENST00000358326.2_Splice_Site|STXBP6_ENST00000419632.2_Splice_Site|STXBP6_ENST00000323944.5_Splice_Site			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	151					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		ATGCTGTTTCCTGAAAGGAGG	0.572000													28	121					1.12875e-08	1.4612e-08	0.706142	1	0
CA14	23632	broad.mit.edu	37	1	150235522	150235522	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:150235522C>A	ENST00000369111.4	+	7	1614	c.644C>A	c.(643-645)tCg>tAg	p.S215*		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	215						integral to membrane	carbonate dehydratase activity|metal ion binding	p.S215L(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACAATGGCTCGCTCACAACT	0.522000													22	74					1.16021e-09	1.53627e-09	0.717897	1	0
R3HDM1	23518	broad.mit.edu	37	2	136393711	136393711	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:136393711A>G	ENST00000264160.4	+	11	1231	c.861A>G	c.(859-861)gaA>gaG	p.E287E	R3HDM1_ENST00000409606.1_Silent_p.E287E|R3HDM1_ENST00000329971.3_Silent_p.E243E|R3HDM1_ENST00000409478.1_Silent_p.E243E|R3HDM1_ENST00000410054.1_Silent_p.E231E	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	287							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)		AAGAAAGAGAAGAAGAGTACC	0.353000													16	55					0	0	0.520397	0	0
CUL7	9820	broad.mit.edu	37	6	43020250	43020250	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:43020250G>C	ENST00000535468.1	-	2	519	c.433C>G	c.(433-435)Cag>Gag	p.Q145E	CUL7_ENST00000265348.3_Missense_Mutation_p.Q93E	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	93					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCAGACTCCTGGGAGGGCCCG	0.592000													12	23					0	0	0.479597	0	0
GRIA2	2891	broad.mit.edu	37	4	158284152	158284152	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:158284152A>T	ENST00000296526.7	+	15	2933	c.2608A>T	c.(2608-2610)Aag>Tag	p.K870*	GRIA2_ENST00000449365.1_Nonsense_Mutation_p.K823*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.K823*|GRIA2_ENST00000264426.9_Nonsense_Mutation_p.K870*|GRIA2_ENST00000507898.1_Nonsense_Mutation_p.K823*	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	870					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGCAACTTATAAGGAAGGTTA	0.398000													16	63					0	0	0.557998	0	0
SMAD4	4089	broad.mit.edu	37	18	48604750	48604750	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:48604750G>T	ENST00000342988.3	+	12	2110	c.1572G>T	c.(1570-1572)tgG>tgT	p.W524C	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.W428C|SMAD4_ENST00000398417.2_Missense_Mutation_p.W524C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	524	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.W524C(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CACCTTGCTGGATTGAAATTC	0.483000													31	10					3.90053e-15	5.81099e-15	0.760397	1	0
ELAVL3	1995	broad.mit.edu	37	19	11568959	11568959	+	Silent	SNP	C	C	T	rs144875735	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:11568959C>T	ENST00000359227.3	-	5	1054	c.630G>A	c.(628-630)acG>acA	p.T210T	ELAVL3_ENST00000438662.2_Silent_p.T210T	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	210					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	p.T210T(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCGCCTGCCCCGTCTTCTGAC	0.632000													14	18					0	0	0.557998	0	0
C17orf66	256957	broad.mit.edu	37	17	34191867	34191867	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:34191867G>A	ENST00000311880.2	-	4	496	c.348C>T	c.(346-348)caC>caT	p.H116H	C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Intron	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	116							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ACATTTTGATGTGGGTTTGAT	0.483000													33	98					0	0	0.804634	0	0
C8orf74	203076	broad.mit.edu	37	8	10555214	10555214	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:10555214A>G	ENST00000304519.5	+	3	376	c.347A>G	c.(346-348)cAc>cGc	p.H116R	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	116										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TACTTCCACCACACCTTCATC	0.572000													22	58					0	0	0.639603	0	0
HADH	3033	broad.mit.edu	37	4	108955412	108955412	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:108955412G>A	ENST00000505878.1	+	9	1129	c.856G>A	c.(856-858)Gca>Aca	p.A286T	HADH_ENST00000454409.2_Missense_Mutation_p.A286T|HADH_ENST00000510728.1_3'UTR|HADH_ENST00000309522.3_Missense_Mutation_p.A282T|HADH_ENST00000603302.1_Missense_Mutation_p.A299T|HADH_ENST00000403312.1_Missense_Mutation_p.A358T			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	282					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	TGAAATGGATGCAGAGAACCC	0.453000													69	75					0	0	0.870114	0	0
RNF214	257160	broad.mit.edu	37	11	117109468	117109468	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:117109468G>T	ENST00000531452.1	+	3	305	c.259G>T	c.(259-261)Gtg>Ttg	p.V87L	RNF214_ENST00000530849.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.V87L|RNF214_ENST00000531287.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	87							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AGCGCACCAGGTGGTTTTAGG	0.498000													25	57					1.75199e-13	2.52064e-13	0.717897	1	0
DHX37	57647	broad.mit.edu	37	12	125449041	125449041	+	Silent	SNP	G	G	A	rs139850570	byFrequency	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:125449041G>A	ENST00000308736.2	-	15	2042	c.1944C>T	c.(1942-1944)cgC>cgT	p.R648R	DHX37_ENST00000544745.1_Silent_p.R435R	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	648	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CGCCAGTGACGCGGTCGTAGT	0.612000													3	50					0	0	0.184627	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171771	68171771	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:68171771C>T	ENST00000243457.3	+	2	974	c.591C>T	c.(589-591)caC>caT	p.H197H	KCNJ2_ENST00000535240.1_Silent_p.H197H	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	197					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TCTTCAGTCACAATGCCGTGA	0.507000													32	69					0	0	0.769981	0	0
VWF	7450	broad.mit.edu	37	12	6122794	6122794	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:6122794T>A	ENST00000261405.5	-	32	5727	c.5473A>T	c.(5473-5475)Att>Ttt	p.I1825F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1825	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCAATTCCAATAGGGAACACT	0.527000													19	71					0	0	0.654019	0	0
ZFAT	57623	broad.mit.edu	37	8	135614378	135614378	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:135614378C>T	ENST00000520727.1	-	7	1847	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	ZFAT_ENST00000377838.3_Silent_p.V528V|ZFAT_ENST00000520356.1_Silent_p.V516V|ZFAT_ENST00000429442.2_Silent_p.V516V|ZFAT_ENST00000523399.1_Silent_p.V466V|ZFAT_ENST00000520214.1_Silent_p.V516V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGAGTGCATTCACGCCCTGGA	0.637000													4	6					0	0	0.184627	0	0
NFYA	4800	broad.mit.edu	37	6	41062141	41062141	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:41062141C>T	ENST00000341376.6	+	9	1096	c.895C>T	c.(895-897)Ctg>Ttg	p.L299L	NFYA_ENST00000353205.5_Silent_p.L270L|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	299					transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTAGAAATACCTGCATGAGTC	0.423000													7	57					0	0	0.278610	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708091	126708091	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:126708091G>T	ENST00000251772.4	+	1	655	c.586G>T	c.(586-588)Gtg>Ttg	p.V196L	PLXNA1_ENST00000393409.2_Missense_Mutation_p.V219L			Q9UIW2	PLXA1_HUMAN	plexin A1	219	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTTCGGCTTCGTGTACCAGGA	0.562000													5	22					0.248553	0.250642	0.248553	1	0
OR5K4	403278	broad.mit.edu	37	3	98073342	98073342	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:98073342G>T	ENST00000354924.2	+	1	645	c.645G>T	c.(643-645)ttG>ttT	p.L215F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CTACTGTCTTGATCTCTTATC	0.358000													30	61					1.30897e-18	2.04824e-18	0.740014	1	0
SLC18A2	6571	broad.mit.edu	37	10	119027183	119027183	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:119027183G>T	ENST00000298472.5	+	13	1265		c.e13-1		SLC18A2_ENST00000497497.1_Splice_Site	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2						neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCCTCTTACAGATTCCATTTG	0.373000													5	4					0.00116845	0.00126487	0.217242	1	0
EMR3	84658	broad.mit.edu	37	19	14772861	14772861	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:14772861C>T	ENST00000253673.5	-	4	369	c.269G>A	c.(268-270)gGa>gAa	p.G90E	EMR3_ENST00000344373.4_Intron|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000443157.2_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	90	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GTAGAAACTTCCTTCGACATT	0.383000													19	12					0	0	0.608945	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143974009	143974009	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:143974009A>G	ENST00000409869.1	+	5	468	c.291A>G	c.(289-291)aaA>aaG	p.K97K	ARHGAP15_ENST00000295095.6_Silent_p.K97K			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	97	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GAGGAAAGAAACTAAGGTAAT	0.333000													10	55					0	0	0.361761	0	0
FMN2	56776	broad.mit.edu	37	1	240370945	240370945	+	Missense_Mutation	SNP	C	C	A	rs6143701		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:240370945C>A	ENST00000319653.9	+	5	3063	c.2833C>A	c.(2833-2835)Ccg>Acg	p.P945T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	945	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AATACCTCCTCCGCCCCCTCT	0.692000													8	18					0.00010058	0.000113414	0.411799	1	0
GLRA2	2742	broad.mit.edu	37	X	14550390	14550390	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:14550390G>T	ENST00000218075.4	+	2	628	c.98G>T	c.(97-99)aGg>aTg	p.R33M	GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Missense_Mutation_p.R33M	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	33					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CATGACTCCAGGTCTGGAAAA	0.413000													28	35					3.65163e-15	5.44501e-15	0.706142	1	0
HACE1	57531	broad.mit.edu	37	6	105219187	105219187	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:105219187C>T	ENST00000262903.4	-	19	2368	c.2092G>A	c.(2092-2094)Gat>Aat	p.D698N	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	698	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCACTTATATCATTATCTAAA	0.378000													9	20					0	0	0.307466	0	0
AMER1	139285	broad.mit.edu	37	X	63411366	63411366	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:63411366G>C	ENST00000330258.3	-	2	2073	c.1801C>G	c.(1801-1803)Cga>Gga	p.R601G	AMER1_ENST00000374869.3_Missense_Mutation_p.R601G|AMER1_ENST00000403336.1_Missense_Mutation_p.R601G	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.R601*(2)									TAAGCCTCTCGAGTATAGGCC	0.642000													5	28					0	0	0.278610	0	0
NUP210P1	255330	broad.mit.edu	37	3	126386168	126386168	+	RNA	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:126386168G>C	ENST00000357061.3	+	0	620					NR_034158.1																						GGACATCCTGGATCTCCAAGG	0.607000													4	22					0	0	0.150653	0	0
DMRT3	58524	broad.mit.edu	37	9	990773	990773	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:990773C>T	ENST00000190165.2	+	2	1225	c.1187C>T	c.(1186-1188)aCg>aTg	p.T396M		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	396					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AACACCATGACGCTGCAGCAG	0.592000													3	13					0	0	0.150653	0	0
BRINP1	1620	broad.mit.edu	37	9	122075593	122075593	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:122075593A>G	ENST00000265922.3	-	2	502	c.41T>C	c.(40-42)aTa>aCa	p.I14T	DBC1_ENST00000373964.2_Missense_Mutation_p.I14T	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		14					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						ACGGCCCCATATAAACAGGAA	0.502000													9	40					0	0	0.335167	0	0
NES	10763	broad.mit.edu	37	1	156641642	156641642	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:156641642G>A	ENST00000368223.3	-	4	2470	c.2338C>T	c.(2338-2340)Cca>Tca	p.P780S		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	780	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTTTTTCTGGGGGTCTTAAT	0.423000													24	16					0	0	0.681144	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362870	128362870	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:128362870T>A	ENST00000262462.4	+	7	2310	c.1300T>A	c.(1300-1302)Ttc>Atc	p.F434I	SLC27A6_ENST00000395266.1_Missense_Mutation_p.F434I|SLC27A6_ENST00000506176.1_Missense_Mutation_p.F434I			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	434					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AAAAAATCCCTTCTTTGGCTA	0.373000													18	58					0	0	0.557998	0	0
FAT4	79633	broad.mit.edu	37	4	126241863	126241863	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:126241863A>G	ENST00000394329.3	+	1	4310	c.4297A>G	c.(4297-4299)Att>Gtt	p.I1433V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1433	Cadherin 14.				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						TGTTGAGAACATTCCCATCGG	0.418000													25	51					0	0	0.717897	0	0
FAM179B	23116	broad.mit.edu	37	14	45473285	45473285	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:45473285G>T	ENST00000361462.2	+	4	2543	c.2360G>T	c.(2359-2361)gGc>gTc	p.G787V	FAM179B_ENST00000361577.3_Missense_Mutation_p.G787V|FAM179B_ENST00000382233.2_Missense_Mutation_p.G787V|KLHL28_ENST00000553817.1_Intron			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	787							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTCAATTTTGGCAGTAAGACA	0.343000													7	73					5.18039e-06	6.15126e-06	0.278610	1	0
SLFN5	162394	broad.mit.edu	37	17	33592869	33592869	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:33592869G>T	ENST00000299977.4	+	5	2786	c.2638G>T	c.(2638-2640)Gca>Tca	p.A880S	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	880					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GGCTTCTAGGGCAAAAAGACA	0.438000													3	27					0.115264	0.117575	0.115264	1	0
OTOGL	283310	broad.mit.edu	37	12	80632703	80632703	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:80632703T>A	ENST00000458043.2	+	9	869	c.863T>A	c.(862-864)gTa>gAa	p.V288E	OTOGL_ENST00000547103.1_Missense_Mutation_p.V288E	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACCAAATGTGTACTCACACCC	0.438000													11	16					0	0	0.411799	0	0
BCORL1	63035	broad.mit.edu	37	X	129149333	129149333	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:129149333C>T	ENST00000540052.1	+	3	2629	c.2585C>T	c.(2584-2586)cCc>cTc	p.P862L	BCORL1_ENST00000359304.2_Missense_Mutation_p.P862L|BCORL1_ENST00000218147.7_Missense_Mutation_p.P862L|BCORL1_ENST00000303743.5_Missense_Mutation_p.P862L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	862					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCCATCAGGCCCACCAGCGTT	0.642000													17	27					0	0	0.592651	0	0
OR2M5	127059	broad.mit.edu	37	1	248308751	248308751	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:248308751T>G	ENST00000366476.1	+	1	302	c.302T>G	c.(301-303)aTt>aGt	p.I101S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCCACACAAATTTTCTTCTAT	0.458000													42	153					0	0	0.834066	0	0
GLA	2717	broad.mit.edu	37	X	100653084	100653084	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:100653084C>T	ENST00000218516.3	-	7	1024	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	GLA_ENST00000493905.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	335					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	TCAAAGTTGTCTCCCTGAAAA	0.463000													10	22					0	0	0.411799	0	0
RHOT1	55288	broad.mit.edu	37	17	30538198	30538198	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:30538198C>G	ENST00000358365.3	+	20	2126	c.1899C>G	c.(1897-1899)ttC>ttG	p.F633L	RHOT1_ENST00000583994.1_Intron|RHOT1_ENST00000545287.2_Missense_Mutation_p.F601L|RHOT1_ENST00000354266.3_Intron|RHOT1_ENST00000394692.2_Intron|RHOT1_ENST00000333942.6_Intron	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	0					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GTCAGAACTTCCTCAACTCAG	0.428000													16	38					0	0	0.539581	0	0
BTBD7	55727	broad.mit.edu	37	14	93723643	93723643	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:93723643C>A	ENST00000334746.5	-	6	1813	c.1506G>T	c.(1504-1506)cgG>cgT	p.R502R	BTBD7_ENST00000554565.1_Silent_p.R151R|BTBD7_ENST00000393170.2_Silent_p.R76R	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	502										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGTCCAGGTCCCGTCTTTTTA	0.408000													19	83					6.33239e-15	9.37573e-15	0.592651	1	0
CLCN4	1183	broad.mit.edu	37	X	10174804	10174804	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:10174804C>T	ENST00000380833.4	+	8	1222	c.831C>T	c.(829-831)ttC>ttT	p.F277F	CLCN4_ENST00000421085.2_Silent_p.F183F|CLCN4_ENST00000380829.1_Silent_p.F277F	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	277						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCGTGCTTTTCAGTCTAGAAG	0.468000													67	110					0	0	0.870114	0	0
DAB2	1601	broad.mit.edu	37	5	39392565	39392565	+	Splice_Site	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:39392565C>T	ENST00000320816.6	-	4	699	c.231_splice	c.e4-1	p.G78_splice	DAB2_ENST00000339788.6_Splice_Site_p.G78_splice|DAB2_ENST00000545653.1_Splice_Site_p.G78_splice|DAB2_ENST00000509337.1_Splice_Site_p.G78_splice	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	78	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GCCGCCATTCCCTGATGAGGG	0.383000													10	25					0	0	0.592651	0	0
BUB1B	701	broad.mit.edu	37	15	40462866	40462866	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:40462866A>G	ENST00000287598.6	+	4	563	c.368A>G	c.(367-369)aAt>aGt	p.N123S	BUB1B_ENST00000412359.3_Missense_Mutation_p.N137S|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	123	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CGATTTCTCAATCTCTGGCTT	0.343000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				5	34					0	0	0.278610	0	0
MARCH1	55016	broad.mit.edu	37	4	164534585	164534585	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:164534585G>A	ENST00000339875.5	-	1	101	c.72C>T	c.(70-72)taC>taT	p.Y24Y	MARCH1_ENST00000503008.1_Intron|MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	0	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTGGTTAAGGTAATACATGG	0.403000													3	11					0	0	0.150653	0	0
CDH12	1010	broad.mit.edu	37	5	21783589	21783589	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:21783589C>G	ENST00000382254.1	-	11	2357	c.1271G>C	c.(1270-1272)tGg>tCg	p.W424S	CDH12_ENST00000522262.1_Missense_Mutation_p.W384S|CDH12_ENST00000504376.2_Missense_Mutation_p.W424S|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	424	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATCACTCTTCCAATCTATGAA	0.373000										HNSCC(59;0.17)			79	41					0	0	0.870114	0	0
SORCS1	114815	broad.mit.edu	37	10	108434828	108434828	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:108434828C>A	ENST00000263054.6	-	14	1926	c.1919G>T	c.(1918-1920)gGa>gTa	p.G640V	SORCS1_ENST00000344440.6_Missense_Mutation_p.G640V|SORCS1_ENST00000369698.1_Missense_Mutation_p.G175V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	640						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGTCTCTTCTCCAGGCTCACC	0.383000													10	48					1.58986e-06	1.92596e-06	0.361761	1	0
CLIP2	7461	broad.mit.edu	37	7	73753334	73753334	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:73753334G>T	ENST00000223398.6	+	3	1005	c.678_splice	c.e3+1	p.L226_splice	CLIP2_ENST00000361545.5_Splice_Site_p.L226_splice|CLIP2_ENST00000395060.1_Splice_Site_p.L226_splice	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	226						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACCGCGTGCTGGTGAGTGCGG	0.682000													3	9					1.024e-07	1.3025e-07	0.184627	1	0
IVL	3713	broad.mit.edu	37	1	152883773	152883773	+	Silent	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:152883773A>T	ENST00000368764.3	+	2	1564	c.1500A>T	c.(1498-1500)ccA>ccT	p.P500P	IVL_ENST00000392667.2_Silent_p.P354P			P07476	INVO_HUMAN	involucrin	500	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			taggacagccaaagcacctgg	0.592000													7	20					0	0	0.278610	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403562	69403562	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:69403562C>A	ENST00000317746.2	-	6	1416	c.1374G>T	c.(1372-1374)ctG>ctT	p.L458L		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	458					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CTGCTCGATCCAGGGGCTTCA	0.418000													63	24					9.2564e-22	1.49008e-21	0.870114	1	0
CDK6	1021	broad.mit.edu	37	7	92247458	92247458	+	Silent	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:92247458A>G	ENST00000265734.4	-	7	1173	c.762T>C	c.(760-762)ttT>ttC	p.F254F	CDK6_ENST00000424848.2_Silent_p.F254F	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	254	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTTTGAATGAAAAGCCTGCC	0.438000			T	MLLT10	ALL								4	28					0	0	0.150653	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123215791	123215791	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:123215791C>A	ENST00000349780.4	-	21	2915	c.2736G>T	c.(2734-2736)ctG>ctT	p.L912L	CDK5RAP2_ENST00000360822.3_Silent_p.L880L|CDK5RAP2_ENST00000359309.3_Silent_p.L912L|CDK5RAP2_ENST00000360190.4_Silent_p.L912L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	912					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GCACCCCGTGCAGGTTCTCTG	0.502000													48	54					6.31075e-24	1.03474e-23	0.870114	1	0
CXXC11	285093	broad.mit.edu	37	2	242814614	242814614	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:242814614G>T	ENST00000343216.3	+	2	935	c.907G>T	c.(907-909)Gcc>Tcc	p.A303S		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	303						integral to membrane											GGTTGGCGTGGCCCAGGGCTG	0.672000													10	5					2.27111e-07	2.84567e-07	0.411799	1	0
TNC	3371	broad.mit.edu	37	9	117838357	117838357	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:117838357C>T	ENST00000350763.4	-	9	3315	c.2904G>A	c.(2902-2904)gtG>gtA	p.V968V	TNC_ENST00000423613.2_Silent_p.V968V|TNC_ENST00000340094.3_Silent_p.V968V|TNC_ENST00000542877.1_Silent_p.V968V|TNC_ENST00000535648.1_Silent_p.V968V|TNC_ENST00000341037.4_Silent_p.V968V|TNC_ENST00000346706.3_Silent_p.V968V|TNC_ENST00000345230.3_Silent_p.V968V|TNC_ENST00000537320.1_Silent_p.V968V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	968	Fibronectin type-III 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGTCTTCCTTCACAGCAGAAA	0.522000													33	58					0	0	0.788014	0	0
AK7	122481	broad.mit.edu	37	14	96871097	96871097	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:96871097A>G	ENST00000267584.4	+	3	342	c.298A>G	c.(298-300)Atc>Gtc	p.I100V	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	100					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTTTCAGGCCATCTCTCGAGA	0.403000													11	20					0	0	0.435327	0	0
SLC6A8	6535	broad.mit.edu	37	X	152959807	152959807	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:152959807G>T	ENST00000253122.5	+	10	1877	c.1401G>T	c.(1399-1401)atG>atT	p.M467I	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Missense_Mutation_p.M352I	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	467					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	AGGGCGGGATGTACGTCTTCC	0.637000													10	35					3.07112e-06	3.67265e-06	0.387290	1	0
AOX1	316	broad.mit.edu	37	2	201502994	201502994	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:201502994G>T	ENST00000374700.2	+	23	2778	c.2537G>T	c.(2536-2538)gGa>gTa	p.G846V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	846					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTAATAACTGGAGGCCGCCAT	0.453000													8	48					9.70103e-10	1.29065e-09	0.361761	1	0
PRG2	5553	broad.mit.edu	37	11	57155006	57155006	+	Splice_Site	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:57155006C>A	ENST00000311862.5	-	6	684	c.610_splice	c.e6-1	p.G204_splice	PRG2_ENST00000533605.1_Splice_Site_p.G193_splice|PRG2_ENST00000525955.1_Splice_Site_p.G204_splice	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGTGGCCTCCTGTGAAGGC	0.577000													17	14					2.94398e-08	3.7848e-08	0.557998	1	0
IL18RAP	8807	broad.mit.edu	37	2	103040329	103040329	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:103040329C>A	ENST00000264260.2	+	4	718	c.129C>A	c.(127-129)gtC>gtA	p.V43V	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	43					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGGAATTTGTCTTATTTTGTG	0.388000													18	13					1.00905e-13	1.46051e-13	0.575678	1	0
RBM47	54502	broad.mit.edu	37	4	40440684	40440684	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:40440684C>A	ENST00000319592.4	-	4	936	c.227G>T	c.(226-228)gGc>gTc	p.G76V	RBM47_ENST00000295971.7_Missense_Mutation_p.G76V|RBM47_ENST00000514014.1_Missense_Mutation_p.G38V|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.G76V|RBM47_ENST00000381793.2_Missense_Mutation_p.G76V			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	76	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGGGATCTTGCCCACGAAGAC	0.682000													9	20					4.68919e-08	5.99174e-08	0.361761	1	0
NLRP9	338321	broad.mit.edu	37	19	56249728	56249728	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:56249728A>T	ENST00000332836.2	-	1	40	c.13T>A	c.(13-15)Ttt>Att	p.F5I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	5	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCCGAAAAAAAAGATTCTGCC	0.393000													13	48					0	0	0.592651	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343873	38343873	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:38343873A>T	ENST00000374618.3	+	5	999	c.821A>T	c.(820-822)cAc>cTc	p.H274L	ZNF33A_ENST00000307441.9_Missense_Mutation_p.H273L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H280L|ZNF33A_ENST00000458705.2_Missense_Mutation_p.H273L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	273						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H273R(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGGGACAATCACTATGAATTT	0.388000													18	40					0	0	0.575678	0	0
LPA	4018	broad.mit.edu	37	6	161027641	161027641	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:161027641A>G	ENST00000447678.1	-	18	2773	c.2653T>C	c.(2653-2655)Tat>Cat	p.Y885H	LPA_ENST00000316300.5_Missense_Mutation_p.Y885H	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3393	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTATAACAATAAGGGGCTGCC	0.522000													15	122					0	0	0.575678	0	0
XIRP2	129446	broad.mit.edu	37	2	168096434	168096434	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:168096434G>T	ENST00000409195.1	+	6	1017	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	XIRP2_ENST00000409605.1_Missense_Mutation_p.G88W|XIRP2_ENST00000409756.2_Missense_Mutation_p.G310W|XIRP2_ENST00000409043.1_Missense_Mutation_p.G310W|XIRP2_ENST00000295237.9_Missense_Mutation_p.G310W|XIRP2_ENST00000409728.1_Missense_Mutation_p.G343W|XIRP2_ENST00000420519.1_Missense_Mutation_p.G343W|XIRP2_ENST00000409273.1_Missense_Mutation_p.G88W	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	135					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAACAAGAAGGGTCCAAAGT	0.413000													10	37					2.74318e-10	3.69054e-10	0.335167	1	0
ZNF749	388567	broad.mit.edu	37	19	57956516	57956516	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:57956516C>T	ENST00000334181.4	+	3	2250	c.2000C>T	c.(1999-2001)cCt>cTt	p.P667L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGAGAAAAGCCTTATGAATGC	0.388000													3	98					0	0	0.115264	0	0
SPEG	10290	broad.mit.edu	37	2	220336962	220336962	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:220336962C>A	ENST00000312358.7	+	15	3981	c.3849C>A	c.(3847-3849)ggC>ggA	p.G1283G	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1283	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGTCCCAGGCCCTCCAGATG	0.652000													4	7					0.184627	0.186516	0.184627	1	0
ATP6AP1	537	broad.mit.edu	37	X	153664221	153664221	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:153664221T>C	ENST00000369762.2	+	10	1458	c.1397T>C	c.(1396-1398)tTg>tCg	p.L466S		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	466					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTATTTCTTTGACCCAGATT	0.552000													24	102					0	0	0.639603	0	0
CHL1	10752	broad.mit.edu	37	3	404927	404927	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:404927G>T	ENST00000256509.2	+	14	2088	c.1446G>T	c.(1444-1446)ctG>ctT	p.L482L	CHL1_ENST00000397491.2_Silent_p.L466L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	466	Ig-like C2-type 5.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGAAACCCCTGGAGGGCAGGC	0.438000													9	34					0.000673444	0.000735184	0.361761	1	0
CPT1A	1374	broad.mit.edu	37	11	68552376	68552376	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:68552376C>A	ENST00000265641.5	-	10	1224	c.1070G>T	c.(1069-1071)cGg>cTg	p.R357L	CPT1A_ENST00000540367.1_Missense_Mutation_p.R357L|CPT1A_ENST00000539743.1_Missense_Mutation_p.R357L|CPT1A_ENST00000376618.2_Missense_Mutation_p.R357L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	357			R -> W (in CPT1AD; decreased stability).		carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CTCCATCTCCCGGGGCTTCAG	0.617000													4	11					4.096e-09	5.3728e-09	0.217242	1	0
ACTN2	88	broad.mit.edu	37	1	236906333	236906333	+	Silent	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:236906333T>A	ENST00000366578.4	+	11	1411	c.1245T>A	c.(1243-1245)acT>acA	p.T415T	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Silent_p.T415T|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	415					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGCACGAGACTTGGGCTTATG	0.498000													5	26					0	0	0.217242	0	0
MOCS1	4337	broad.mit.edu	37	6	39881105	39881105	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:39881105C>A	ENST00000373186.4	-	5	850	c.713G>T	c.(712-714)gGc>gTc	p.G238V	MOCS1_ENST00000373195.3_Missense_Mutation_p.G151V|MOCS1_ENST00000373188.2_Missense_Mutation_p.G238V|MOCS1_ENST00000425303.2_Missense_Mutation_p.G238V|MOCS1_ENST00000308559.7_Missense_Mutation_p.G238V|MOCS1_ENST00000432280.2_Missense_Mutation_p.G209V|MOCS1_ENST00000340692.5_Missense_Mutation_p.G238V|MOCS1_ENST00000373175.4_Missense_Mutation_p.G209V	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	238	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGGGGGAGGCCCTCAGTCAA	0.587000													11	10					5.50884e-06	6.52741e-06	0.411799	1	0
GFOD2	81577	broad.mit.edu	37	16	67709752	67709752	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:67709752C>A	ENST00000268797.7	-	3	809	c.464G>T	c.(463-465)gGc>gTc	p.G155V	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	155						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		CAGCAGGCTGCCTGAGTAGAT	0.592000													16	5					1.56452e-12	2.21861e-12	0.557998	1	0
SQSTM1	8878	broad.mit.edu	37	5	179250038	179250038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:179250038C>T	ENST00000389805.4	+	2	464	c.286C>T	c.(286-288)Cga>Tga	p.R96*	SQSTM1_ENST00000376929.3_Nonsense_Mutation_p.R12*|SQSTM1_ENST00000510187.1_Nonsense_Mutation_p.R96*|SQSTM1_ENST00000360718.5_Nonsense_Mutation_p.R12*|SQSTM1_ENST00000402874.3_Nonsense_Mutation_p.R12*	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	96	Interaction with PRKCZ and dimerization (By similarity).|OPR.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACATCTTCCGAATCTACAT	0.493000													9	1					0	0	0.361761	0	0
GPD1	2819	broad.mit.edu	37	12	50497855	50497855	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:50497855A>G	ENST00000301149.3	+	1	254	c.22A>G	c.(22-24)Att>Gtt	p.I8V	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.I8V	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	8					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GAAAGTCTGCATTGTAGGCTC	0.582000													17	34					0	0	0.624587	0	0
CSMD1	64478	broad.mit.edu	37	8	2966135	2966135	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:2966135G>A	ENST00000602557.1	-	45	7302	c.6747C>T	c.(6745-6747)ctC>ctT	p.L2249L	CSMD1_ENST00000542608.1_Silent_p.L2248L|CSMD1_ENST00000537824.1_Silent_p.L2248L|CSMD1_ENST00000602723.1_Silent_p.L2249L|CSMD1_ENST00000400186.3_Silent_p.L2249L|CSMD1_ENST00000520002.1_Silent_p.L2249L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2249	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTGGAAATTGAGGACAAAGA	0.478000													8	5					0	0	0.278610	0	0
FAT3	120114	broad.mit.edu	37	11	92523337	92523337	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:92523337G>A	ENST00000298047.6	+	7	4581	c.4564G>A	c.(4564-4566)Gag>Aag	p.E1522K	FAT3_ENST00000525166.1_Missense_Mutation_p.E1372K|FAT3_ENST00000409404.2_Missense_Mutation_p.E1522K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1522	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTATACTGCCGAGAGGCTGGA	0.498000										TCGA Ovarian(4;0.039)			66	143					0	0	0.870114	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198536	170198536	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:170198536C>T	ENST00000231706.4	-	7	1850	c.1535G>A	c.(1534-1536)gGc>gAc	p.G512D	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	512						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GTCCACGGTGCCGTAATTGGG	0.443000													31	209					0	0	0.750413	0	0
ABCB5	340273	broad.mit.edu	37	7	20739716	20739716	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:20739716G>T	ENST00000404938.2	+	19	2947	c.2295G>T	c.(2293-2295)acG>acT	p.T765T	ABCB5_ENST00000258738.6_Silent_p.T320T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	320	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAATTTTAACGATGAGATTAA	0.279000													8	23					2.17888e-05	2.53875e-05	0.335167	1	0
PEG10	23089	broad.mit.edu	37	7	94293271	94293271	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:94293271G>T	ENST00000482108.1	+	2	882	c.403G>T	c.(403-405)Gca>Tca	p.A135S	PEG10_ENST00000488574.1_Missense_Mutation_p.A135S	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	135	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTGGGCCTCAGCAAAGCTGGA	0.532000													8	81					3.86212e-05	4.4293e-05	0.361761	1	0
EXOSC7	23016	broad.mit.edu	37	3	45038690	45038690	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:45038690G>C	ENST00000265564.7	+	4	414	c.366G>C	c.(364-366)aaG>aaC	p.K122N	EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	122					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		TCGACTTAAAGACCCTCTGCA	0.478000													13	16					0	0	0.411799	0	0
SLC37A2	219855	broad.mit.edu	37	11	124955343	124955343	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:124955343C>A	ENST00000403796.2	+	15	1602	c.1301C>A	c.(1300-1302)gCc>gAc	p.A434D	SLC37A2_ENST00000298280.5_3'UTR|SLC37A2_ENST00000407458.1_Missense_Mutation_p.A434D|SLC37A2_ENST00000525837.1_3'UTR|SLC37A2_ENST00000308074.4_Missense_Mutation_p.A434D	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	434					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		ACGGTCACGGCCATCATTGAC	0.632000													4	7					0.000602214	0.000658709	0.184627	1	0
CSMD3	114788	broad.mit.edu	37	8	113249435	113249435	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:113249435C>A	ENST00000297405.5	-	67	10855	c.10611G>T	c.(10609-10611)atG>atT	p.M3537I	CSMD3_ENST00000343508.3_Missense_Mutation_p.M3497I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M3467I|CSMD3_ENST00000455883.2_Missense_Mutation_p.M3368I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3537						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						GTAGCAGCTCCATGTTGCTAT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	57					3.32936e-07	4.13156e-07	0.539581	1	0
MARCH10	162333	broad.mit.edu	37	17	60814219	60814219	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:60814219T>C	ENST00000544856.2	-	7	1385	c.1007A>G	c.(1006-1008)gAa>gGa	p.E336G	MARCH10_ENST00000456609.2_Missense_Mutation_p.E337G|MARCH10_ENST00000583600.1_Missense_Mutation_p.E375G|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.E337G			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	337							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCTGCAATTTTCAGCATTTTC	0.473000													29	217					0	0	0.693898	0	0
OR2L2	26246	broad.mit.edu	37	1	248202321	248202321	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:248202321A>C	ENST00000366479.2	+	1	848	c.752A>C	c.(751-753)tAt>tCt	p.Y251S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCCTTCTACTATGCACCCTTT	0.517000													20	81					0	0	0.592651	0	0
HEPHL1	341208	broad.mit.edu	37	11	93806601	93806601	+	Silent	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:93806601A>T	ENST00000315765.9	+	8	1508	c.1500A>T	c.(1498-1500)ctA>ctT	p.L500L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	500	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCCCAAACCTAGATGGTAAGT	0.468000													16	12					0	0	0.500413	0	0
DCDC1	341019	broad.mit.edu	37	11	30953361	30953361	+	Missense_Mutation	SNP	C	C	A	rs150079177		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:30953361C>A	ENST00000597505.1	-	20	2853	c.2854G>T	c.(2854-2856)Gtt>Ttt	p.V952F	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.V31F			P59894	DCDC1_HUMAN	doublecortin domain containing 1	190					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGGATAGTAACGGATCTGTTT	0.408000													8	41					0.000274275	0.000302767	0.307466	1	0
AOX1	316	broad.mit.edu	37	2	201502993	201502993	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:201502993G>A	ENST00000374700.2	+	23	2777	c.2536G>A	c.(2536-2538)Gga>Aga	p.G846R	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	846					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTTAATAACTGGAGGCCGCCA	0.448000													8	48					0	0	0.361761	0	0
KIF16B	55614	broad.mit.edu	37	20	16253910	16253910	+	Silent	SNP	G	G	A	rs75213889		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:16253910G>A	ENST00000354981.2	-	26	4099	c.3942C>T	c.(3940-3942)caC>caT	p.H1314H	KIF16B_ENST00000355755.3_Silent_p.H1284H|KIF16B_ENST00000378003.2_Silent_p.H499H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1314					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						ACCCCGTCCCGTGGCTGCTGT	0.562000													11	25					0	0	0.479597	0	0
PCLO	27445	broad.mit.edu	37	7	82581895	82581895	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:82581895T>A	ENST00000423517.2	-	5	8711	c.8374A>T	c.(8374-8376)Act>Tct	p.T2792S	PCLO_ENST00000333891.8_Missense_Mutation_p.T2792S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2723					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGTCTCAGTGGCCAGAGAT	0.438000													24	73					0	0	0.693898	0	0
AR	367	broad.mit.edu	37	X	66765999	66765999	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:66765999G>A	ENST00000374690.3	+	1	1535	c.1011G>A	c.(1009-1011)ggG>ggA	p.G337G	AR_ENST00000396044.3_Silent_p.G337G|AR_ENST00000504326.1_Silent_p.G337G|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	335	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGAGCTCCGGGACACTTGAAC	0.572000									Androgen Insensitivity Syndrome				7	31					0	0	0.278610	0	0
KDR	3791	broad.mit.edu	37	4	55961048	55961048	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:55961048G>T	ENST00000263923.4	-	21	3187	c.2892C>A	c.(2890-2892)gaC>gaA	p.D964E		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	964	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTGATGCTGTCCAAGCGCC	0.502000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			24	112					2.21704e-12	3.13597e-12	0.639603	1	0
MOCS1	4337	broad.mit.edu	37	6	39881106	39881106	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:39881106C>A	ENST00000373186.4	-	5	849	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C	MOCS1_ENST00000373195.3_Missense_Mutation_p.G151C|MOCS1_ENST00000373188.2_Missense_Mutation_p.G238C|MOCS1_ENST00000425303.2_Missense_Mutation_p.G238C|MOCS1_ENST00000308559.7_Missense_Mutation_p.G238C|MOCS1_ENST00000432280.2_Missense_Mutation_p.G209C|MOCS1_ENST00000340692.5_Missense_Mutation_p.G238C|MOCS1_ENST00000373175.4_Missense_Mutation_p.G209C	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	238	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGGGGGAGGCCCTCAGTCAAG	0.587000													11	10					3.07112e-06	3.67265e-06	0.387290	1	0
CDH7	1005	broad.mit.edu	37	18	63477090	63477090	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:63477090C>A	ENST00000536984.2	+	3	1055	c.361C>A	c.(361-363)Cga>Aga	p.R121R	CDH7_ENST00000397968.2_Silent_p.R121R|CDH7_ENST00000323011.3_Silent_p.R121R			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	121	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R121*(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTACACGCTCCGAGCTCAAGC	0.488000													14	20					2.23348e-06	2.68819e-06	0.500413	1	0
TLK1	9874	broad.mit.edu	37	2	171863020	171863020	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:171863020T>C	ENST00000442919.2	-	17	2203	c.1588A>G	c.(1588-1590)Atc>Gtc	p.I530V	TLK1_ENST00000434911.2_Missense_Mutation_p.I482V|TLK1_ENST00000521943.1_Missense_Mutation_p.I530V|TLK1_ENST00000431350.2_Missense_Mutation_p.I578V|TLK1_ENST00000360843.3_Missense_Mutation_p.I599V	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	578	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GGGGGTTTGATCTCATTGAGA	0.299000													12	70					0	0	0.435327	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215686	130215686	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:130215686C>A	ENST00000276211.5	+	2	392	c.47C>A	c.(46-48)cCc>cAc	p.P16H	ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	16					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P16H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCACTGTGCCCCAGAATCATG	0.527000													41	75					1.22674e-20	1.95789e-20	0.840704	1	0
LRP5	4041	broad.mit.edu	37	11	68181230	68181230	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:68181230C>G	ENST00000294304.7	+	12	2683	c.2577C>G	c.(2575-2577)taC>taG	p.Y859*		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	859	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTATATCTACTGGACAGACT	0.597000													4	16					0	0	0.307466	0	0
UNC45A	55898	broad.mit.edu	37	15	91496492	91496492	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:91496492C>T	ENST00000394275.2	+	22	3319	c.2484C>T	c.(2482-2484)gcC>gcT	p.A828A	AC068831.6_ENST00000553321.1_RNA|UNC45A_ENST00000418476.2_Silent_p.A843A	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	843					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGGGCTTGGCCATGCTTACCT	0.627000													3	25					0	0	0.115264	0	0
CASK	8573	broad.mit.edu	37	X	41448845	41448845	+	Splice_Site	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:41448845G>T	ENST00000318588.9	-	13	1201	c.1155_splice	c.e13-1	p.L386_splice	CASK_ENST00000442742.2_Splice_Site_p.L386_splice|CASK_ENST00000378163.1_Splice_Site_p.L386_splice|CASK_ENST00000378158.1_Splice_Site_p.L386_splice|CASK_ENST00000378166.4_Splice_Site_p.L386_splice|CASK_ENST00000378154.1_Splice_Site_p.L386_splice|CASK_ENST00000421587.2_Splice_Site_p.L380_splice|CASK_ENST00000361962.4_Splice_Site_p.L386_splice			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	386	L27 1.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TTGTCATACAGCTAAAAAGCA	0.308000													6	8					0.217242	0.219201	0.217242	1	0
XPNPEP2	7512	broad.mit.edu	37	X	128901640	128901640	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:128901640T>C	ENST00000371106.3	+	20	1994	c.1802T>C	c.(1801-1803)aTc>aCc	p.I601T		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	601					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CGGAACCTCATCGATGTCAGC	0.577000													54	88					0	0	0.870114	0	0
EPG5	57724	broad.mit.edu	37	18	43464725	43464725	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:43464725G>C	ENST00000282041.5	-	30	5195	c.5161C>G	c.(5161-5163)Ctg>Gtg	p.L1721V	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1721					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGTTCTTCAGAATGGTTTCA	0.428000													11	22					0	0	0.361761	0	0
TMC2	117532	broad.mit.edu	37	20	2575566	2575566	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:2575566G>T	ENST00000358864.1	+	9	1044	c.1029G>T	c.(1027-1029)atG>atT	p.M343I		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	343						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTTACTTTATGGTGGGGGTCA	0.522000													17	8					1.39806e-14	2.04829e-14	0.729181	1	0
LUZP2	338645	broad.mit.edu	37	11	25004696	25004696	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:25004696G>A	ENST00000533227.1	+	9	651	c.364G>A	c.(364-366)Gag>Aag	p.E122K	LUZP2_ENST00000336930.6_Missense_Mutation_p.E208K	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	208						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGCAATGAAAGAGACTGTGCA	0.423000													43	124					0	0	0.864702	0	0
CNTRL	11064	broad.mit.edu	37	9	123924434	123924434	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:123924434C>A	ENST00000373855.1	+	34	5568	c.5308C>A	c.(5308-5310)Cga>Aga	p.R1770R	CNTRL_ENST00000238341.5_Silent_p.R1770R|CNTRL_ENST00000373850.1_Silent_p.R1218R|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1770					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						AGAAATAGAACGAATGACTGC	0.428000													34	22					1.42033e-22	2.30187e-22	0.796494	1	0
C3orf79	152118	broad.mit.edu	37	3	153203855	153203855	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:153203855C>A	ENST00000446603.2	+	2	246	c.184C>A	c.(184-186)Ctt>Att	p.L62I	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	62										endometrium(1)|large_intestine(3)	4						ccctgccactcttctaaaaga	0.368000													8	10					2.27111e-07	2.84567e-07	0.411799	1	0
EFNA3	1944	broad.mit.edu	37	1	155058673	155058673	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:155058673A>G	ENST00000368408.3	+	4	648	c.578A>G	c.(577-579)aAc>aGc	p.N193S	EFNA3_ENST00000556931.1_Missense_Mutation_p.N188S|EFNA3_ENST00000418360.2_Intron|EFNA3_ENST00000505139.1_Missense_Mutation_p.N188S|EFNA3_ENST00000498667.1_3'UTR	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	193					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGAAGATCAACGTGCTGGGT	0.697000											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	6					0	0	0.592651	0	0
KNTC1	9735	broad.mit.edu	37	12	123082387	123082387	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:123082387C>T	ENST00000333479.7	+	44	4642	c.4465C>T	c.(4465-4467)Cgg>Tgg	p.R1489W	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1489					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTCTGCAAAGCGGCGGCATCC	0.502000													53	32					0	0	0.870114	0	0
ZNF521	25925	broad.mit.edu	37	18	22804988	22804988	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:22804988C>G	ENST00000361524.3	-	4	3042	c.2894G>C	c.(2893-2895)gGa>gCa	p.G965A	ZNF521_ENST00000584787.1_Missense_Mutation_p.G745A|ZNF521_ENST00000538137.2_Missense_Mutation_p.G965A	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	965					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAACCGCTCTCCGCAAATAGG	0.498000			T	PAX5	ALL								37	29					0	0	0.834066	0	0
USP9X	8239	broad.mit.edu	37	X	41057842	41057842	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:41057842G>T	ENST00000324545.7	+	30	5075	c.4442G>T	c.(4441-4443)gGa>gTa	p.G1481V	USP9X_ENST00000378308.2_Missense_Mutation_p.G1481V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1481					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGAGAAATGGAGAGCTTCCA	0.378000													12	19					0.0167234	0.0173969	0.435327	1	0
LOXL2	4017	broad.mit.edu	37	8	23198531	23198531	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:23198531C>G	ENST00000389131.3	-	4	1086	c.717G>C	c.(715-717)gaG>gaC	p.E239D	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	239	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TGTATGTCCTCTCCCCAGGGA	0.542000													13	25					0	0	0.479597	0	0
PDE1A	5136	broad.mit.edu	37	2	183099181	183099181	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:183099181G>A	ENST00000435564.1	-	4	643	c.443C>T	c.(442-444)gCa>gTa	p.A148V	PDE1A_ENST00000358139.2_Missense_Mutation_p.A148V|PDE1A_ENST00000409365.1_Missense_Mutation_p.A132V|PDE1A_ENST00000346717.4_Missense_Mutation_p.A114V|PDE1A_ENST00000351439.5_Missense_Mutation_p.A132V|PDE1A_ENST00000536095.1_Missense_Mutation_p.A44V|PDE1A_ENST00000331935.6_Missense_Mutation_p.A148V|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Missense_Mutation_p.A148V|PDE1A_ENST00000456212.1_Missense_Mutation_p.A148V	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	148					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GATGACAGCTGCTGGATATGC	0.269000													10	32					0	0	0.500413	0	0
CWC22	57703	broad.mit.edu	37	2	180830695	180830695	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:180830695C>A	ENST00000410053.3	-	12	1524	c.1225G>T	c.(1225-1227)Gga>Tga	p.G409*	CWC22_ENST00000295749.6_Nonsense_Mutation_p.G409*	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	409						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCAGTATCTCCCTCATCAAGA	0.378000													4	25					0.000602214	0.000658709	0.184627	1	0
GPR55	9290	broad.mit.edu	37	2	231774928	231774928	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:231774928G>C	ENST00000392040.1	-	2	942	c.750C>G	c.(748-750)ttC>ttG	p.F250L	GPR55_ENST00000392039.2_Missense_Mutation_p.F250L	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	250					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	p.F250F(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		TTCTCACCAGGAACTGCAGGA	0.542000													6	26					0	0	0.248553	0	0
PC	5091	broad.mit.edu	37	11	66617697	66617697	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:66617697G>C	ENST00000393960.1	-	19	2993	c.2712C>G	c.(2710-2712)ctC>ctG	p.L904L	PC_ENST00000393958.2_Silent_p.L904L|PC_ENST00000529047.1_Silent_p.L24L|PC_ENST00000393955.2_Silent_p.L904L	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	904					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TCACCTTGATGAGATCGCCCA	0.622000													5	11					0	0	0.184627	0	0
MTMR8	55613	broad.mit.edu	37	X	63445199	63445199	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:63445199A>G	ENST00000453546.1	-	10	1546	c.1457T>C	c.(1456-1458)tTc>tCc	p.F486S	ASB12_ENST00000362002.2_Missense_Mutation_p.F111S|ASB12_ENST00000396130.2_Missense_Mutation_p.F102S			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GACAGCAGTGAAAAGTGGCGT	0.527000													25	41					0	0	0.706142	0	0
KCNK17	89822	broad.mit.edu	37	6	39267319	39267319	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:39267319C>G	ENST00000373231.4	-	5	1115	c.883G>C	c.(883-885)Gac>Cac	p.D295H	KCNK17_ENST00000453413.2_3'UTR	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	295						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GGCTCCCGGTCAGGTCCCTGT	0.582000													16	56					0	0	0.520397	0	0
SERPINA5	5104	broad.mit.edu	37	14	95056465	95056465	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:95056465T>A	ENST00000329597.7	+	4	917	c.707T>A	c.(706-708)aTg>aAg	p.M236K	SERPINA5_ENST00000554276.1_Missense_Mutation_p.M236K|SERPINA5_ENST00000553780.1_Missense_Mutation_p.M236K|SERPINA5_ENST00000554866.1_Missense_Mutation_p.M236K	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	236					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GTACCCATGATGAGCCGCGAG	0.547000													21	74					0	0	0.654019	0	0
QRFPR	84109	broad.mit.edu	37	4	122251665	122251665	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:122251665C>A	ENST00000394427.2	-	5	1222	c.811G>T	c.(811-813)Gct>Tct	p.A271S	QRFPR_ENST00000334383.5_Missense_Mutation_p.S233I	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	271						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATAATGACAGCTCGTTTCTTC	0.418000													25	26					1.90571e-15	2.85177e-15	0.796494	1	0
SLC13A1	6561	broad.mit.edu	37	7	122809236	122809236	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:122809236G>C	ENST00000194130.2	-	4	558	c.519C>G	c.(517-519)ttC>ttG	p.F173L	SLC13A1_ENST00000539873.1_Missense_Mutation_p.F109L	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	173						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTGATCCGTTGAAGTAAGTCA	0.478000													11	63					0	0	0.387290	0	0
FEZF1	389549	broad.mit.edu	37	7	121944292	121944292	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:121944292A>T	ENST00000442488.2	-	1	267	c.200T>A	c.(199-201)cTc>cAc	p.L67H	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.L67H|FEZF1_ENST00000427185.2_Missense_Mutation_p.L67H	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	67					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CGACGAGTTGAGATGCAGAGA	0.647000													8	47					0	0	0.278610	0	0
CPSF2	53981	broad.mit.edu	37	14	92622823	92622823	+	Splice_Site	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:92622823A>T	ENST00000298875.4	+	12	1728	c.1442_splice	c.e12-1	p.K481_splice		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	481					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TATTATTTAGACCAGAGGATT	0.348000													60	73					0	0	0.870114	0	0
MSH4	4438	broad.mit.edu	37	1	76349378	76349378	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:76349378A>T	ENST00000263187.3	+	15	2083	c.1979A>T	c.(1978-1980)gAa>gTa	p.E660V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	660					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATATCTGCGGAAAAACCTATT	0.318000								Mismatch excision repair (MMR)					11	17					0	0	0.387290	0	0
PRPF40A	55660	broad.mit.edu	37	2	153572545	153572545	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:153572545C>A	ENST00000410080.1	-	2	721	c.180G>T	c.(178-180)caG>caT	p.Q60H	PRPF40A_ENST00000486100.1_5'UTR	NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	87					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						GGGGCATCATCTGCGGCATCA	0.463000													19	58					8.24728e-16	1.24637e-15	0.681144	1	0
EPHB6	2051	broad.mit.edu	37	7	142562343	142562343	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:142562343G>T	ENST00000392957.2	+	7	1572	c.785G>T	c.(784-786)tGt>tTt	p.C262F	EPHB6_ENST00000442129.1_Missense_Mutation_p.C262F|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	262	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGGGCACCTGTGTGGCTCAT	0.667000													16	22					2.37509e-13	3.40836e-13	0.592651	1	0
GRIK2	2898	broad.mit.edu	37	6	102372530	102372530	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:102372530G>A	ENST00000369138.1	+	12	2293	c.1803G>A	c.(1801-1803)gtG>gtA	p.V601V	GRIK2_ENST00000421544.1_Silent_p.V601V|GRIK2_ENST00000318991.6_Silent_p.V601V|GRIK2_ENST00000413795.1_Silent_p.V601V|GRIK2_ENST00000369134.4_Silent_p.V552V|GRIK2_ENST00000369137.3_Intron	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	601					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ACTCAGACGTGGTGGAAAACA	0.418000													4	80					0	0	0.150653	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609843	84609843	+	Silent	SNP	T	T	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:84609843T>G	ENST00000344803.2	+	4	4505	c.4458T>G	c.(4456-4458)ccT>ccG	p.P1486P		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AGAATTATCCTACAAGGATTA	0.498000													18	64					0	0	0.608945	0	0
MUC16	94025	broad.mit.edu	37	19	9024973	9024973	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:9024973C>T	ENST00000397910.4	-	16	37092	c.36889G>A	c.(36889-36891)Gga>Aga	p.G12297R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12299	SEA 2.				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						GCATCCACTCCAGTGGCTGCC	0.537000													14	34					0	0	0.706142	0	0
DUSP27	92235	broad.mit.edu	37	1	167095183	167095183	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:167095183G>T	ENST00000361200.2	+	6	981	c.815G>T	c.(814-816)cGg>cTg	p.R272L	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Missense_Mutation_p.R272L|DUSP27_ENST00000271385.5_Missense_Mutation_p.R272L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	272					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGCAGCTGCGGGAGCTCAAT	0.582000													11	45					7.93312e-07	9.70117e-07	0.457914	1	0
OR2AK2	391191	broad.mit.edu	37	1	248129452	248129452	+	Silent	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:248129452C>A	ENST00000366480.3	+	1	918	c.819C>A	c.(817-819)acC>acA	p.T273T	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTCTCTTTACCTACACAAGGC	0.488000													32	36					7.63091e-17	1.17329e-16	0.834066	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72055073	72055073	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:72055073T>G	ENST00000555818.1	+	2	832	c.484T>G	c.(484-486)Tcc>Gcc	p.S162A	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S162A|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S162A	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	162					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTACCCCAGCTCCCCCAGAAA	0.473000													37	203					0	0	0.804634	0	0
TMEM53	79639	broad.mit.edu	37	1	45125889	45125889	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:45125889T>A	ENST00000372237.3	-	2	303	c.140A>T	c.(139-141)aAg>aTg	p.K47M	TMEM53_ENST00000476724.1_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Missense_Mutation_p.K47M|TMEM53_ENST00000372235.3_Missense_Mutation_p.K47M|TMEM53_ENST00000372242.3_Missense_Mutation_p.K47M	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	47						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GTTCTTGTCCTTGCAGCCACC	0.582000													28	25					0	0	0.760397	0	0
BTN2A1	11120	broad.mit.edu	37	6	26468738	26468738	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:26468738C>T	ENST00000312541.5	+	8	1793	c.1545C>T	c.(1543-1545)ggC>ggT	p.G515G	BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000541522.1_Silent_p.G454G|BTN2A1_ENST00000469185.1_Intron	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	515					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTGAAGAGGGCCTGACACTTC	0.577000													15	87					0	0	0.539581	0	0
MT-CYB	4519	broad.mit.edu	37	MT	14913	14913	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrM:14913C>T	ENST00000361789.2	+	1	167	c.167C>T	c.(166-168)tCa>tTa	p.56_56insL						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CATACACTACTCACCAGACGC	0.522000													103	143					0	0	0.870114	0	0
CSMD3	114788	broad.mit.edu	37	8	113842009	113842009	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:113842009T>C	ENST00000297405.5	-	12	2009	c.1765A>G	c.(1765-1767)Ata>Gta	p.I589V	CSMD3_ENST00000343508.3_Missense_Mutation_p.I549V|CSMD3_ENST00000352409.3_Missense_Mutation_p.I589V|CSMD3_ENST00000455883.2_Missense_Mutation_p.I485V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	589	CUB 3.					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						TCAAAATTTATCTGGATAACC	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	26					0	0	0.307466	0	0
SH2D4B	387694	broad.mit.edu	37	10	82331308	82331308	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:82331308G>C	ENST00000339284.2	+	3	899	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	SH2D4B_ENST00000313455.4_Missense_Mutation_p.E108Q|SH2D4B_ENST00000470604.2_Missense_Mutation_p.E156Q	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	156	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CAAAGTCCTGGAGGAACGCAT	0.597000													11	39					0	0	0.387290	0	0
GPR155	151556	broad.mit.edu	37	2	175346449	175346449	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:175346449C>A	ENST00000392552.2	-	2	474	c.236G>T	c.(235-237)aGa>aTa	p.R79I	GPR155_ENST00000392551.2_Missense_Mutation_p.R79I|GPR155_ENST00000295500.4_Missense_Mutation_p.R79I	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	79					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						AAGTGCAAATCTGGAGACAAA	0.393000													16	48					1.3612e-06	1.65493e-06	0.479597	1	0
CSMD3	114788	broad.mit.edu	37	8	113841973	113841973	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:113841973C>T	ENST00000297405.5	-	12	2045	c.1801G>A	c.(1801-1803)Gat>Aat	p.D601N	CSMD3_ENST00000343508.3_Missense_Mutation_p.D561N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D601N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D497N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	601	CUB 3.					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						GTCAAGGTATCATAGCCAATC	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	36					0	0	0.361761	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998545	27998545	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:27998545G>T	ENST00000441525.1	-	1	1021	c.907C>A	c.(907-909)Ctc>Atc	p.L303I		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	303										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCTGAAGTGAGGAACTTATAA	0.478000													30	41					1.61788e-16	2.46947e-16	0.760397	1	0
VPS33B	26276	broad.mit.edu	37	15	91550237	91550237	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:91550237C>A	ENST00000333371.3	-	9	996	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	VPS33B_ENST00000535843.1_Missense_Mutation_p.D124Y|VPS33B_ENST00000535906.1_Missense_Mutation_p.D188Y	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	215					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTTTCGCCATCCTCCTCCTCC	0.522000													13	43					0.000219431	0.000244964	0.457914	1	0
DCDC1	341019	broad.mit.edu	37	11	31327812	31327812	+	Silent	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:31327812G>T	ENST00000597505.1	-	3	557	c.558C>A	c.(556-558)gtC>gtA	p.V186V	DCDC1_ENST00000452803.1_Silent_p.V186V|RP1-296L11.1_ENST00000528872.1_RNA			P59894	DCDC1_HUMAN	doublecortin domain containing 1	186	Doublecortin.				intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTCTGGCAAAGACTGTTCTAG	0.348000													9	27					0.307466	0.309865	0.307466	1	0
DTHD1	401124	broad.mit.edu	37	4	36296646	36296646	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:36296646C>T	ENST00000456874.2	+	4	1311	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L	DTHD1_ENST00000357504.3_Missense_Mutation_p.P253L|DTHD1_ENST00000507598.1_Missense_Mutation_p.P458L	NM_001170700.1	NP_001164171.1	Q6ZMT9	DTHD1_HUMAN	death domain containing 1	418					signal transduction			p.P418H(1)|p.P253H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|stomach(1)	8						AGGATTACACCTTCGTATTTC	0.338000													3	7					0	0	0.150653	0	0
CATSPERD	257062	broad.mit.edu	37	19	5770981	5770981	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:5770981G>C	ENST00000381624.3	+	19	1722	c.1661G>C	c.(1660-1662)gGg>gCg	p.G554A	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Missense_Mutation_p.G212A	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	554						integral to membrane											GGCTTCCAGGGGCAGCAGTCC	0.587000													30	19					0	0	0.769981	0	0
NEB	4703	broad.mit.edu	37	2	152484310	152484310	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:152484310G>T	ENST00000397345.3	-	69	10072	c.9870C>A	c.(9868-9870)caC>caA	p.H3290Q	NEB_ENST00000172853.10_Missense_Mutation_p.H3047Q|NEB_ENST00000409198.1_Missense_Mutation_p.H3047Q|NEB_ENST00000603639.1_Missense_Mutation_p.H3290Q|NEB_ENST00000427231.2_Missense_Mutation_p.H3290Q|NEB_ENST00000604864.1_Missense_Mutation_p.H3290Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3290					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCCAATGTGGTGGCCGAGCT	0.428000													9	154					1.12685e-05	1.32957e-05	0.307466	1	0
TMEM117	84216	broad.mit.edu	37	12	44781886	44781886	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:44781886A>T	ENST00000266534.3	+	8	1103	c.976A>T	c.(976-978)Aaa>Taa	p.K326*	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Nonsense_Mutation_p.K222*	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	326						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AATATTTTATAAACCTCATGA	0.348000													12	31					0	0	0.387290	0	0
DNHD1	144132	broad.mit.edu	37	11	6519878	6519878	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:6519878T>C	ENST00000254579.6	+	3	997	c.433T>C	c.(433-435)Tcc>Ccc	p.S145P	DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000527990.2_Missense_Mutation_p.S145P|DNHD1_ENST00000354685.3_Missense_Mutation_p.S145P	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	145					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGACAGTGCTTCCCATGCTGA	0.592000													8	213					0	0	0.278610	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374495	113374495	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:113374495G>A	ENST00000316407.4	-	7	6444	c.6034C>T	c.(6034-6036)Ccc>Tcc	p.P2012S	KIAA2018_ENST00000478658.1_Missense_Mutation_p.P2012S|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	2012					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGAAGATGGGGAAGACTTGGA	0.478000													7	21					0	0	0.248553	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332626	22332626	+	RNA	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:22332626G>T	ENST00000558896.1	+	0	433																											ATTGACCTATGCCTAAGCTGT	0.458000													29	114					4.59853e-10	6.13746e-10	0.693898	1	0
LCT	3938	broad.mit.edu	37	2	136575035	136575035	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:136575035G>A	ENST00000264162.2	-	6	1593	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	528	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCAAATGTGGAGAAGCAGAA	0.607000													13	27					0	0	0.435327	0	0
ABCG2	9429	broad.mit.edu	37	4	89052258	89052258	+	Silent	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:89052258G>A	ENST00000237612.3	-	5	1031	c.486C>T	c.(484-486)aaC>aaT	p.N162N	ABCG2_ENST00000515655.1_Silent_p.N162N	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	162	ABC transporter.				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)	GAATGACCCTGTTAATCCGTT	0.433000													29	90					0	0	0.760397	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77396100	77396100	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:77396100G>C	ENST00000282849.5	-	7	1536	c.1118C>G	c.(1117-1119)tCt>tGt	p.S373C		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	373	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S373Y(1)		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						AATGAGGGCAGACTGCCATTG	0.403000													28	9					0	0	0.717897	0	0
TRPM6	140803	broad.mit.edu	37	9	77377034	77377034	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:77377034C>A	ENST00000451710.3	-	26	4790	c.4553G>T	c.(4552-4554)tGg>tTg	p.W1518L	TRPM6_ENST00000360774.1_Missense_Mutation_p.W1518L|TRPM6_ENST00000449912.2_Missense_Mutation_p.W1513L|TRPM6_ENST00000376864.4_Missense_Mutation_p.W1518L|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.W1513L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1518					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGGCTGAAGCCATGGTCCCAC	0.498000													11	57					1.08611e-07	1.37525e-07	0.387290	1	0
SPTB	6710	broad.mit.edu	37	14	65262078	65262078	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:65262078T>C	ENST00000389722.3	-	11	1674	c.1621A>G	c.(1621-1623)Atc>Gtc	p.I541V	SPTB_ENST00000389720.3_Missense_Mutation_p.I541V|SPTB_ENST00000556626.1_Missense_Mutation_p.I541V|SPTB_ENST00000389721.5_Missense_Mutation_p.I541V|SPTB_ENST00000542895.1_Missense_Mutation_p.I541V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	541					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)		ATCCAGTCGATGCTGTGCAGC	0.647000													5	37					0	0	0.184627	0	0
CASP9	842	broad.mit.edu	37	1	15820426	15820426	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:15820426C>A	ENST00000546424.1	-	8	1363	c.1119G>T	c.(1117-1119)caG>caT	p.Q373H	CASP9_ENST00000348549.5_Missense_Mutation_p.Q223H|CASP9_ENST00000333868.5_Missense_Mutation_p.Q373H|CASP9_ENST00000375890.4_Missense_Mutation_p.Q290H			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	373					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		AGTGAGCCCACTGCTCAAAGA	0.592000													5	4					1.23904e-05	1.45683e-05	0.184627	1	0
FRMPD3	84443	broad.mit.edu	37	X	106803516	106803516	+	Silent	SNP	T	T	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:106803516T>C	ENST00000276185.4	+	10	891	c.891T>C	c.(889-891)ttT>ttC	p.F297F				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	297	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GAGAACGCTTTGGAATGGATC	0.512000													11	106					0	0	0.411799	0	0
LINGO2	158038	broad.mit.edu	37	9	27949430	27949430	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:27949430C>A	ENST00000379992.2	-	6	1689	c.1240G>T	c.(1240-1242)Gaa>Taa	p.E414*	LINGO2_ENST00000308675.3_Nonsense_Mutation_p.E414*	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	414	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AACTTCTTTTCACGGATTTTG	0.488000													29	64					2.80507e-11	3.86676e-11	0.760397	1	0
KCNK2	3776	broad.mit.edu	37	1	215368434	215368434	+	Splice_Site	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:215368434A>T	ENST00000444842.2	+	6	1112	c.963_splice	c.e6+1	p.E321_splice	KCNK2_ENST00000391895.2_Splice_Site_p.E317_splice|KCNK2_ENST00000391894.2_Splice_Site_p.E306_splice	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	321							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ACAAAAGAAGAGGTGAGAATT	0.318000													23	113					0	0	0.608945	0	0
PRH1	5554	broad.mit.edu	37	12	11036788	11036788	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:11036788A>G	ENST00000428168.2	-	1	66	c.29T>C	c.(28-30)cTg>cCg	p.L10P	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	10						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GAAGGCCAGCAGGGCCACTGA	0.473000													8	91					0	0	0.387290	0	0
ITPR1	3708	broad.mit.edu	37	3	4856882	4856882	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:4856882A>T	ENST00000354582.6	+	58	8152	c.7802A>T	c.(7801-7803)aAg>aTg	p.K2601M	ITPR1_ENST00000544951.1_Missense_Mutation_p.K579M|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Missense_Mutation_p.K2553M|ITPR1_ENST00000443694.2_Missense_Mutation_p.K2601M|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.K2568M|ITPR1_ENST00000357086.4_Missense_Mutation_p.K2568M|ITPR1_ENST00000302640.8_Missense_Mutation_p.K2601M|AC018816.3_ENST00000489771.1_Intron|AC018816.3_ENST00000441894.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2616					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GAGATCTTGAAGACCACGTGC	0.502000													21	20					0	0	0.667858	0	0
PPHLN1	51535	broad.mit.edu	37	12	42778772	42778772	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:42778772G>T	ENST00000432191.2	+	5	449	c.377G>T	c.(376-378)cGg>cTg	p.R126L	PPHLN1_ENST00000395568.2_Missense_Mutation_p.R181L|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000552761.1_Missense_Mutation_p.R133L|PPHLN1_ENST00000549190.1_Missense_Mutation_p.R199L|PPHLN1_ENST00000337898.6_Missense_Mutation_p.R126L|PPHLN1_ENST00000358314.7_Missense_Mutation_p.R181L|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.R188L	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	181					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TCCTACAAACGGCAGAATGAA	0.493000													12	25					4.3838e-07	5.41604e-07	0.435327	1	0
OGDH	4967	broad.mit.edu	37	7	44736068	44736068	+	Silent	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:44736068C>T	ENST00000222673.5	+	14	1854	c.1812C>T	c.(1810-1812)tgC>tgT	p.C604C	OGDH_ENST00000439616.2_Silent_p.C454C|OGDH_ENST00000543843.1_Silent_p.C555C|OGDH_ENST00000444676.1_Silent_p.C619C|OGDH_ENST00000449767.1_Silent_p.C600C|OGDH_ENST00000447398.1_Silent_p.C615C	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	604					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCATGTCCTGCCCCTCCACGG	0.517000													8	15					0	0	0.278610	0	0
DAD1	1603	broad.mit.edu	37	14	23057909	23057909	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:23057909G>A	ENST00000250498.4	-	1	266	c.155C>T	c.(154-156)cCc>cTc	p.P52L	DAD1_ENST00000538631.1_Missense_Mutation_p.P52L|DAD1_ENST00000543337.1_Intron	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1	52					anti-apoptosis|apoptosis|post-translational protein modification	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		AGAGTTGAAGGGGAAGGTCCC	0.502000													20	75					0	0	0.608945	0	0
PEAR1	375033	broad.mit.edu	37	1	156873746	156873746	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:156873746C>T	ENST00000338302.3	+	3	253	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	PEAR1_ENST00000292357.7_Missense_Mutation_p.L10F			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	10						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCCCTCCTTCTCCTGGCTGT	0.642000													34	144					0	0	0.853193	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254065	30254065	+	Silent	SNP	G	G	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:30254065G>C	ENST00000361644.2	+	5	761	c.24G>C	c.(22-24)acG>acC	p.T8T	MAGEB3_ENST00000378986.1_Silent_p.T8T	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	8										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AGAAGAGTACGCTCCATGCAC	0.542000													4	39					0	0	0.150653	0	0
LOC102724539	102724539	broad.mit.edu	37	1	8270632	8270632	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:8270632delG	ENST00000452982.1	+	0	288																											ATTTGACTGTGGTCTCTGCTC	0.453													2	4	---	---	---	---					
RP4-739H11.3	0	broad.mit.edu	37	1	41136916	41136917	+	RNA	INS	-	-	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:41136916_41136917insG	ENST00000440100.1	-	0	263																											gcctaggccttgggggggatgc	0.525													2	4	---	---	---	---					
SGIP1	84251	broad.mit.edu	37	1	67185075	67185075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:67185075delG	ENST00000371037.4	+	19	1806	c.1729delG	c.(1729-1731)cafs	p.A577fs	SGIP1_ENST00000371035.3_Frame_Shift_Del_p.A367fs|SGIP1_ENST00000371036.3_Frame_Shift_Del_p.A379fs|SGIP1_ENST00000237247.6_Frame_Shift_Del_p.A608fs|SGIP1_ENST00000435165.2_Frame_Shift_Del_p.A82fs|SGIP1_ENST00000371039.1_Frame_Shift_Del_p.A380fs	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	577					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTTCAAAGGAGCAGACCCAAG	0.463													32	33	---	---	---	---					
ZRANB2-AS2	100852410	broad.mit.edu	37	1	71566435	71566436	+	RNA	DEL	CA	CA	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:71566435_71566436delCA	ENST00000455406.1	+	0	131				ZRANB2-AS2_ENST00000596952.1_RNA|ZRANB2-AS2_ENST00000415780.1_RNA	NR_046217.1																						TTGGGCTGAGCACACACACACA	0.436													2	4	---	---	---	---					
ZRANB2-AS2	100852410	broad.mit.edu	37	1	71648173	71648173	+	RNA	DEL	T	T	-	rs76799657		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:71648173delT	ENST00000455406.1	+	0	131				ZRANB2-AS2_ENST00000596952.1_RNA|ZRANB2-AS2_ENST00000415780.1_RNA	NR_046217.1																						aatgggaccattttttttttt	0.448													2	4	---	---	---	---					
LOC729987	729987	broad.mit.edu	37	1	98735046	98735047	+	RNA	INS	-	-	TGTG	rs66460370		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:98735046_98735047insTGTG	ENST00000418344.1	+	0	165					NR_046088.1																						tttgctttatCtgtgtgtgtgt	0.347													5	2	---	---	---	---					
SLC25A24	29957	broad.mit.edu	37	1	108700237	108700237	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:108700237delA	ENST00000565488.1	-	5	735	c.516delT	c.(514-516)atfs	p.I172fs	SLC25A24_ENST00000370041.4_Frame_Shift_Del_p.I153fs	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	172					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CCCCTATGTCAATTCCCTGTA	0.388													39	39	---	---	---	---					
LOC440600	440600	broad.mit.edu	37	1	110850930	110850930	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:110850930delT	ENST00000449169.1	-	0	293					NR_036595.1																						tttcacttcatttcctcataa	0.458													2	4	---	---	---	---					
SLC16A1	6566	broad.mit.edu	37	1	113456553	113456554	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:113456553_113456554delTC	ENST00000538576.1	-	5	2293_2294	c.1462_1463delGA	c.(1462-1464)cfs	p.D488fs	SLC16A1_ENST00000369626.3_Frame_Shift_Del_p.D488fs	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	488					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)	TCCATCTGTGTCTTTCTGGTCC	0.455													13	66	---	---	---	---					
LOC101927209	101927209	broad.mit.edu	37	1	142647305	142647306	+	RNA	INS	-	-	T	rs145988756	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:142647305_142647306insT	ENST00000369381.2	-	0	2507				RP11-417J8.3_ENST00000426408.1_lincRNA																							gtgtgtgtgtgtgtgtgtgtgt	0.396													2	4	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975813	152975836	+	In_Frame_Del	DEL	ACACCAAGGTCCCTGAACCAGGCA	ACACCAAGGTCCCTGAACCAGGCA	-	rs1970328	byFrequency	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:152975813_152975836delACACCAAGGTCCCTGAACCAGGCA	ENST00000331860.3	+	3	467_490	c.317_340delACACCAAGGTCCCTGAACCAGGCA	c.(316-342)tgc>t	p.YTKVPEPGS106del	SPRR3_ENST00000542696.1_In_Frame_Del_p.YTKVPEPGS98del|SPRR3_ENST00000295367.4_In_Frame_Del_p.YTKVPEPGS106del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	106	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCATCAAGGT	0.567													11	190	---	---	---	---					
RP11-550P17.5	0	broad.mit.edu	37	1	159324931	159324931	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:159324931delT	ENST00000431862.1	-	0	539																											acaaaccaactttttgttttg	0.239													2	4	---	---	---	---					
LOC400794	400794	broad.mit.edu	37	1	165451199	165451200	+	RNA	INS	-	-	AGAA	rs72690029	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:165451199_165451200insAGAA	ENST00000421273.1	-	0	1478				RP11-280O1.2_ENST00000416424.1_RNA	NR_026744.1																						aagaaagagagagaaagaaaag	0.436													2	4	---	---	---	---					
LINC00970	101978719	broad.mit.edu	37	1	168949453	168949459	+	RNA	DEL	CTCTCCC	CTCTCCC	-	rs2984591		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:168949453_168949459delCTCTCCC	ENST00000366408.3	-	0	209																											catatgcactctctcccctctccttgg	0.483													3	5	---	---	---	---					
LINC00970	101978719	broad.mit.edu	37	1	168995346	168995346	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:168995346delA	ENST00000366408.3	-	0	209																											actccgtctcaaaaaaaaccc	0.418													2	4	---	---	---	---					
LINC00970	101978719	broad.mit.edu	37	1	169001334	169001334	+	RNA	DEL	T	T	-	rs71794083	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:169001334delT	ENST00000366408.3	-	0	209																											cttcttcttctttctctctct	0.438													5	6	---	---	---	---					
LINC00970	101978719	broad.mit.edu	37	1	169007615	169007615	+	RNA	DEL	T	T	-	rs4348702	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:169007615delT	ENST00000366408.3	-	0	209																											accaaaaaaataaagcaggag	0.313													2	4	---	---	---	---					
SEC16B	89866	broad.mit.edu	37	1	177908913	177908913	+	Splice_Site	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:177908913delC	ENST00000308284.6	-	18	2217		c.e18-1		RP4-798P15.3_ENST00000528461.1_Splice_Site|RP4-798P15.3_ENST00000354921.2_Splice_Site	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTACCTTTTGCTATTTAAAAT	0.388													5	8	---	---	---	---					
RP11-373J16.1	0	broad.mit.edu	37	1	188959710	188959711	+	RNA	INS	-	-	T	rs141179817	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr1:188959710_188959711insT	ENST00000445072.1	+	0	239																											ttgtttttttctttttttttcc	0.356													2	4	---	---	---	---					
AC144450.1	0	broad.mit.edu	37	2	1585377	1585378	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:1585377_1585378insT	ENST00000438247.1	-	0	515																											TCCATGGATCCTCCCACAGTGA	0.574													3	3	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12442128	12442128	+	RNA	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:12442128delC	ENST00000412294.1	+	0	315																											CCTGCACTGACCACGCTTCCC	0.502													6	0	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12568782	12568783	+	RNA	INS	-	-	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:12568782_12568783insC	ENST00000412294.1	+	0	412																											CTTCCCCCTCGCCCCCCGACGG	0.569													2	4	---	---	---	---					
AC010145.4	0	broad.mit.edu	37	2	16182121	16182122	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:16182121_16182122insT	ENST00000422415.2	-	0	152																											gatgagagaggtttttggggaa	0.480													2	4	---	---	---	---					
AC010880.1	0	broad.mit.edu	37	2	16576520	16576521	+	RNA	INS	-	-	AC			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:16576520_16576521insAC	ENST00000427950.1	+	0	157																											acaccatagagacacacacaca	0.515													3	6	---	---	---	---					
AC067959.1	0	broad.mit.edu	37	2	21444096	21444097	+	RNA	DEL	GT	GT	-	rs35217430		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:21444096_21444097delGT	ENST00000457901.1	+	0	40_41																											tggtctgcaggtgtctagattt	0.455													5	1	---	---	---	---					
AC068490.2	0	broad.mit.edu	37	2	22284567	22284567	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:22284567delG	ENST00000450551.1	-	0	200																											ttgaggtgttggttgcttcta	0.408													2	4	---	---	---	---					
LOC101929418	101929418	broad.mit.edu	37	2	30312056	30312057	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:30312056_30312057insA	ENST00000453606.1	-	0	109																											aacaaacaaacaaaaaaaccct	0.446													2	4	---	---	---	---					
LINC01317	104355287	broad.mit.edu	37	2	33955658	33955659	+	RNA	INS	-	-	T	rs151140368	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:33955658_33955659insT	ENST00000366209.2	+	0	68																											GGTCAGTTTGCTTTTTTTTTTA	0.292													2	4	---	---	---	---					
AC012593.1	0	broad.mit.edu	37	2	35293438	35293439	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:35293438_35293439insA	ENST00000588944.1	+	0	115																											ctggatggcacaaaaaaaaata	0.386													2	4	---	---	---	---					
AC006369.3	0	broad.mit.edu	37	2	37972967	37972967	+	RNA	DEL	T	T	-	rs68078473		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:37972967delT	ENST00000431712.1	+	0	311																											TACTATAGACTTTTTTTTTCT	0.353													2	4	---	---	---	---					
LINC01121	400952	broad.mit.edu	37	2	45412242	45412242	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:45412242delG	ENST00000378479.1	-	0	752					NR_033831.1																						CTTCCTTCCTGGAAGTTTTAA	0.527													2	4	---	---	---	---					
LINC01122	400955	broad.mit.edu	37	2	59249732	59249733	+	RNA	DEL	TG	TG	-	rs56182030		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:59249732_59249733delTG	ENST00000452840.1	+	0	1026																											ATTCtgtgtttgtgtgtgtgtg	0.366													2	4	---	---	---	---					
LOC101927701	101927701	broad.mit.edu	37	2	68048539	68048540	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:68048539_68048540insA	ENST00000457448.1	-	0	180																											ACCTAGAAGAGAAAAAAAAAAT	0.366													3	3	---	---	---	---					
ANKRD20A8P	729171	broad.mit.edu	37	2	95510106	95510107	+	RNA	INS	-	-	A	rs78818000	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:95510106_95510107insA	ENST00000432432.2	-	0	906					NR_040113.1																						gtagctatcttcaaaaaataat	0.371													5	6	---	---	---	---					
LINC01104	150577	broad.mit.edu	37	2	100846673	100846674	+	RNA	INS	-	-	G	rs7560046		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:100846673_100846674insG	ENST00000452354.1	+	0	567					NR_103730.1																						aaaaaaaaaaaaaaaaaagaaa	0.396													3	4	---	---	---	---					
LINC01104	150577	broad.mit.edu	37	2	100858665	100858665	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:100858665delT	ENST00000452354.1	+	0	567					NR_103730.1																						TGGGTCTGCCTTTTCTCCTCT	0.483													2	4	---	---	---	---					
AC009312.1	0	broad.mit.edu	37	2	118521440	118521440	+	RNA	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:118521440delC	ENST00000457110.1	-	0	161																											GAATTTCTTACCATACAAATA	0.423													2	4	---	---	---	---					
IWS1	55677	broad.mit.edu	37	2	128223233	128223233	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:128223233delA	ENST00000596439.1	+	0	243																											tttcctgtataaattacccag	0.398													2	4	---	---	---	---					
AC074363.1	0	broad.mit.edu	37	2	168292044	168292045	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:168292044_168292045insA	ENST00000442316.1	+	0	164																											CTTGGATATCCAAAAATGTTTG	0.337													2	4	---	---	---	---					
AC079305.11	0	broad.mit.edu	37	2	177941685	177941686	+	RNA	DEL	CT	CT	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:177941685_177941686delCT	ENST00000441205.1	-	0	370																											TGTAAGGAGGctctctctctct	0.446													3	3	---	---	---	---					
AC007319.1	0	broad.mit.edu	37	2	187936788	187936789	+	RNA	DEL	GA	GA	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:187936788_187936789delGA	ENST00000412276.1	+	0	92				AC007319.1_ENST00000453517.1_RNA																							aaaTGAaggggagagagagaga	0.550													2	4	---	---	---	---					
LOC101927687	101927687	broad.mit.edu	37	2	200764973	200764974	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:200764973_200764974insT	ENST00000594069.1	-	0	786																											tgattttttaatttttttggta	0.525													2	4	---	---	---	---					
LOC101927865	101927865	broad.mit.edu	37	2	208070293	208070293	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:208070293delA	ENST00000435643.1	+	0	285																											ctgggcaattataagaatcaa	0.323													2	4	---	---	---	---					
AC007879.5	0	broad.mit.edu	37	2	208166133	208166136	+	RNA	DEL	AACA	AACA	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:208166133_208166136delAACA	ENST00000412387.1	-	0	315																											ccgactgaagaacaaacaaacaac	0.343													5	2	---	---	---	---					
LINC00607	646324	broad.mit.edu	37	2	216496958	216496959	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:216496958_216496959insT	ENST00000445174.1	-	0	723				AC012668.2_ENST00000417485.2_lincRNA	NR_037195.1																						ttgctcctgggttttttctggt	0.366													2	4	---	---	---	---					
LOC151475	151475	broad.mit.edu	37	2	231560560	231560561	+	RNA	INS	-	-	T	rs78013423		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr2:231560560_231560561insT	ENST00000415174.1	-	0	600					NR_040038.1																						ACAGGCATCTGTtttttttttt	0.406													3	5	---	---	---	---					
BHLHE40-AS1	100507582	broad.mit.edu	37	3	4969488	4969497	+	RNA	DEL	GAGAGAGAGA	GAGAGAGAGA	-	rs112295550		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:4969488_4969497delGAGAGAGAGA	ENST00000420832.1	-	0	307				BHLHE40-AS1_ENST00000441386.2_RNA|BHLHE40-AS1_ENST00000434530.1_RNA																							gtgtgtgtgtgagagagagagaggaagaga	0.467													3	3	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12210356	12210356	+	RNA	DEL	T	T	-	rs3836373		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:12210356delT	ENST00000432424.2	+	0	1330							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						aTGCAGGAGATTTCTTCTTAG	0.493													4	2	---	---	---	---					
AC133680.1	0	broad.mit.edu	37	3	24960868	24960868	+	RNA	DEL	C	C	-	rs6775359	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:24960868delC	ENST00000455576.1	+	0	345																											aaccgaaatgcaggtgcgaac	0.403													2	4	---	---	---	---					
AC133680.1	0	broad.mit.edu	37	3	24989436	24989436	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:24989436delT	ENST00000455576.1	+	0	345																											ATGTTACCAATTTTTTTTTTT	0.328													2	4	---	---	---	---					
LINC00971	440970	broad.mit.edu	37	3	84894079	84894080	+	RNA	DEL	TG	TG	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:84894079_84894080delTG	ENST00000484892.1	-	0	1294					NR_033860.1																						gacattagactgtcaaaagaga	0.495													6	1	---	---	---	---					
LINC00882	100302640	broad.mit.edu	37	3	106615034	106615037	+	RNA	DEL	GATA	GATA	-	rs71678967		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:106615034_106615037delGATA	ENST00000484698.1	-	0	628																											gatgctagatgatagatagataga	0.382													4	4	---	---	---	---					
LINC00636	285205	broad.mit.edu	37	3	107618779	107618779	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:107618779delA	ENST00000494231.1	+	0	59					NR_015394.1																						TGTCCTTTTGAAATCATATCT	0.353													2	4	---	---	---	---					
RP11-90K6.1	0	broad.mit.edu	37	3	112047824	112047824	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:112047824delT	ENST00000498032.1	+	0	450																											tctaaatgtcttttaggaagg	0.264													2	4	---	---	---	---					
RP11-572M11.4	0	broad.mit.edu	37	3	112829924	112829925	+	RNA	INS	-	-	G	rs2613966	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:112829924_112829925insG	ENST00000496389.1	+	0	399																											AGAGATTCACCGGGGGTGAGGG	0.465													2	4	---	---	---	---					
RP11-190P13.2	0	broad.mit.edu	37	3	114989625	114989626	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:114989625_114989626insT	ENST00000459855.1	+	0	338																											CCATTTTTTTGTTTTTTTTCTG	0.421													2	4	---	---	---	---					
NPHP3-AS1	348808	broad.mit.edu	37	3	132485267	132485267	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:132485267delG	ENST00000504440.1	+	0	249					NR_002811.1																						ttctttcactgggaaagggaa	0.607													2	4	---	---	---	---					
CLSTN2	64084	broad.mit.edu	37	3	140122651	140122652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:140122651_140122652insC	ENST00000458420.3	+	3	603_604	c.413_414insC	c.(412-414)taafs	p.*138fs		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	138	Cadherin 1.				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						GAGACAGCCTGGAAAAAGTCAC	0.564										HNSCC(16;0.037)			35	146	---	---	---	---					
TFDP2	7029	broad.mit.edu	37	3	141712394	141712395	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:141712394_141712395delAG	ENST00000499676.2	-	6	829_830	c.158_159delCT	c.(157-159)tfs	p.S53fs	TFDP2_ENST00000486111.1_Frame_Shift_Del_p.S53fs|TFDP2_ENST00000310282.6_Frame_Shift_Del_p.S53fs|TFDP2_ENST00000397991.4_Frame_Shift_Del_p.S86fs|TFDP2_ENST00000479040.1_Frame_Shift_Del_p.S53fs|TFDP2_ENST00000467072.1_Frame_Shift_Del_p.S53fs|TFDP2_ENST00000477292.1_Intron|TFDP2_ENST00000495310.1_Frame_Shift_Del_p.S17fs|TFDP2_ENST00000464782.1_Intron|TFDP2_ENST00000489671.1_Frame_Shift_Del_p.S114fs|TFDP2_ENST00000317104.7_Intron	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	114					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						CTGAAAAATCAGAGTCTATAAA	0.302													7	47	---	---	---	---					
RP11-88H10.3	0	broad.mit.edu	37	3	145681370	145681370	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:145681370delG	ENST00000494509.1	+	0	529																											CAAGCAGTGTGGCCGAATCAT	0.368													3	6	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	146633495	146633495	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:146633495delG	ENST00000473299.1	-	0	543																											ATGTCTGACTGGCTTCCTATA	0.418													2	4	---	---	---	---					
RP11-501O2.5	0	broad.mit.edu	37	3	148089902	148089903	+	RNA	INS	-	-	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:148089902_148089903insC	ENST00000481334.1	+	0	210																											ACTGCATCCCACCCCCCCGCCC	0.436													3	3	---	---	---	---					
RP11-167H9.4	0	broad.mit.edu	37	3	149883758	149883758	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:149883758delA	ENST00000489690.1	+	0	212				RP11-167H9.4_ENST00000487840.1_RNA																							TAGCATTGTCAAAAAAAAAAC	0.368													2	4	---	---	---	---					
RP11-23D24.2	0	broad.mit.edu	37	3	153369220	153369220	+	RNA	DEL	T	T	-	rs78993435		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:153369220delT	ENST00000493214.2	-	0	160																											tactcagccataaaaaggaac	0.363													5	1	---	---	---	---					
RP11-23D24.2	0	broad.mit.edu	37	3	153523733	153523733	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:153523733delT	ENST00000488210.1	-	0	477																											TCTTCATTCATTTTTTTTTTG	0.433													3	3	---	---	---	---					
LINC00886	730091	broad.mit.edu	37	3	156478550	156478550	+	RNA	DEL	T	T	-	rs34326818		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:156478550delT	ENST00000472943.1	-	0	148					NR_038387.1																						CACCTACATGTTTTTTTTTTT	0.403													4	2	---	---	---	---					
RP11-379F4.4	0	broad.mit.edu	37	3	158489767	158489768	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:158489767_158489768insT	ENST00000465477.1	+	0	482																											CCAAGCCTTGCTTTTTTGATTC	0.480													2	4	---	---	---	---					
TMEM212-AS1	100874219	broad.mit.edu	37	3	171602376	171602377	+	RNA	INS	-	-	T	rs67886012		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:171602376_171602377insT	ENST00000449106.1	-	0	382																											tgaaccactccttttttttttt	0.406													3	4	---	---	---	---					
RP11-324C10.1	0	broad.mit.edu	37	3	172900969	172900969	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:172900969delA	ENST00000447709.1	+	0	22																											gaggcctaggaggaaaaagtg	0.567													2	4	---	---	---	---					
RP11-324C10.1	0	broad.mit.edu	37	3	172990849	172990850	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:172990849_172990850insT	ENST00000447709.1	+	0	216																											aaatctgagagtttttttggtg	0.292													2	4	---	---	---	---					
RP11-324C10.1	0	broad.mit.edu	37	3	173049042	173049042	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:173049042delG	ENST00000447709.1	+	0	216																											ccttagtattgggcagatgat	0.463													2	4	---	---	---	---					
LINC00578	100505566	broad.mit.edu	37	3	177265652	177265653	+	RNA	INS	-	-	TG	rs112389020		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:177265652_177265653insTG	ENST00000442937.1	+	0	289					NR_047568.1																						CCCATGGTCTTtgtgtgtgtgt	0.455													3	4	---	---	---	---					
RP11-2L8.1	0	broad.mit.edu	37	3	177654181	177654181	+	RNA	DEL	T	T	-	rs35916446		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:177654181delT	ENST00000450500.1	+	0	436																											TTATCCTTTCTTTTTTTTTTT	0.313													3	5	---	---	---	---					
RP11-143P4.2	0	broad.mit.edu	37	3	192863040	192863041	+	RNA	DEL	TA	TA	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:192863040_192863041delTA	ENST00000414895.1	-	0	425																											GAGGATAAAGTATTAGCAACAG	0.297													2	4	---	---	---	---					
LOC100507391	100507391	broad.mit.edu	37	3	194461097	194461098	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr3:194461097_194461098insA	ENST00000423318.1	+	0	727					NR_037891.1																						actcggtctccaaaaaaacaaa	0.495													2	4	---	---	---	---					
LINC01182	101929071	broad.mit.edu	37	4	13740408	13740409	+	RNA	DEL	AG	AG	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:13740408_13740409delAG	ENST00000510907.1	+	0	281																											cctgggtgacagagagagagag	0.416													4	9	---	---	---	---					
LINC01085	152742	broad.mit.edu	37	4	14129340	14129341	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:14129340_14129341insA	ENST00000502759.1	+	0	392					NR_033931.1																						TCTGGACTACCAAGTACCAGAT	0.495													3	4	---	---	---	---					
RP11-17E2.2	0	broad.mit.edu	37	4	22270186	22270186	+	RNA	DEL	G	G	-	rs149161246		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:22270186delG	ENST00000510705.3	+	0	859																											gataaccacagggagtaggag	0.602													6	2	---	---	---	---					
RP11-496D24.2	0	broad.mit.edu	37	4	24664912	24664913	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:24664912_24664913insA	ENST00000569621.1	+	0	188																											GAGTGCACTCCAAAACTGTGCC	0.500													2	4	---	---	---	---					
RP11-554D13.1	0	broad.mit.edu	37	4	95607058	95607058	+	RNA	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:95607058delC	ENST00000514304.1	+	0	94																											tggtacctggcccagggtctc	0.473													6	2	---	---	---	---					
RP11-269F21.3	0	broad.mit.edu	37	4	112874478	112874478	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:112874478delG	ENST00000511219.1	-	0	134																											AAGACCCACTGGCAATCCTTA	0.333													3	3	---	---	---	---					
RP11-269F21.3	0	broad.mit.edu	37	4	112977184	112977184	+	RNA	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:112977184delC	ENST00000511219.1	-	0	134																											aactccgcctcctgggttcaa	0.468													2	4	---	---	---	---					
NDST4	64579	broad.mit.edu	37	4	115791971	115791971	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:115791971delG	ENST00000264363.2	-	7	2350	c.1672delC	c.(1672-1674)acfs	p.H558fs		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	558	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAATACTGGTGGGCCAGTTGC	0.458													13	41	---	---	---	---					
RP11-138I17.1	0	broad.mit.edu	37	4	137753227	137753227	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:137753227delG	ENST00000505736.1	-	0	155																											ggagccagaagggggatgaag	0.527													5	5	---	---	---	---					
RP11-21G20.3	0	broad.mit.edu	37	4	155697299	155697300	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr4:155697299_155697300insT	ENST00000515071.1	-	0	85																											tgcccttaaaattttttccaac	0.421													2	4	---	---	---	---					
C5orf55	116349	broad.mit.edu	37	5	442814	442819	+	In_Frame_Del	DEL	CCTTCT	CCTTCT	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:442814_442819delCCTTCT	ENST00000408966.2	-	1	439_444	c.119_124delAGAAGG	c.(118-126)gtt>g	p.EKV40del		NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	40						extracellular region				large_intestine(1)|lung(2)	3						TGATTCCCAACCTTCTCCGCTTTGGT	0.602													7	98	---	---	---	---					
LINC01511	100506791	broad.mit.edu	37	5	1373971	1373972	+	RNA	DEL	AA	AA	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:1373971_1373972delAA	ENST00000504989.1	-	0	506																											ctgattaaagaaaaatggtttg	0.421													5	4	---	---	---	---					
LINC01019	285577	broad.mit.edu	37	5	3517992	3517992	+	RNA	DEL	C	C	-	rs71604586		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:3517992delC	ENST00000505443.1	-	0	459					NR_033898.1																						ATTTGTTTCTCCCCCCCCCCA	0.338													2	4	---	---	---	---					
RP11-122F24.1	0	broad.mit.edu	37	5	7043066	7043066	+	RNA	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:7043066delC	ENST00000512838.1	+	0	154																											ccttactactccttactactg	0.438													11	2	---	---	---	---					
LOC285692	285692	broad.mit.edu	37	5	9823661	9823661	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:9823661delA	ENST00000511616.1	-	0	521					NR_027112.2																						aaaggaaaggaagcagaaagg	0.572													11	5	---	---	---	---					
RP11-419C19.2	0	broad.mit.edu	37	5	12997558	12997558	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:12997558delA	ENST00000510065.1	-	0	166																											CAAACCTACCaaaaaaaaaaa	0.299													2	4	---	---	---	---					
LOC101929505	101929505	broad.mit.edu	37	5	16411708	16411709	+	RNA	INS	-	-	ACAG	rs147220797	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:16411708_16411709insACAG	ENST00000513157.1	-	0	1433																											cacacagacacacacacacaca	0.460													3	6	---	---	---	---					
LOC102723526	102723526	broad.mit.edu	37	5	17473947	17473947	+	RNA	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:17473947delC	ENST00000504998.1	+	0	225																											ttatctgtgacagaccaacag	0.393													7	1	---	---	---	---					
CTD-2023M8.1	0	broad.mit.edu	37	5	18706693	18706694	+	RNA	DEL	GT	GT	-	rs35354602		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:18706693_18706694delGT	ENST00000512978.1	-	0	176																											gtttgtgtgagtgtgtgtgtgt	0.366													2	4	---	---	---	---					
RP11-124N3.3	0	broad.mit.edu	37	5	18973076	18973076	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:18973076delT	ENST00000504827.1	-	0	289																											CTCTTGTGTCTTTTTTTTTTA	0.393													2	4	---	---	---	---					
RP11-774D14.1	0	broad.mit.edu	37	5	20924663	20924663	+	RNA	DEL	T	T	-	rs70957008		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:20924663delT	ENST00000502427.1	+	0	541																											TATAGGTCACttttttttttt	0.433													4	4	---	---	---	---					
RP11-152K4.2	0	broad.mit.edu	37	5	31149641	31149641	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:31149641delT	ENST00000523584.1	-	0	125																											TTGGCCCTCCTCCAGTCTTGT	0.393													2	4	---	---	---	---					
CTD-2066L21.3	0	broad.mit.edu	37	5	33216280	33216280	+	RNA	DEL	T	T	-	rs11303391		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:33216280delT	ENST00000510327.1	-	0	346																											TTAATGTATATGCGTATATGC	0.313													8	0	---	---	---	---					
CTD-2175A23.1	0	broad.mit.edu	37	5	52282201	52282201	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:52282201delG	ENST00000505701.1	-	0	262				CTD-2175A23.1_ENST00000503559.1_RNA																							tgtgacaacaggtataaaaga	0.403													2	4	---	---	---	---					
LOC101928569	101928569	broad.mit.edu	37	5	57404245	57404245	+	RNA	DEL	A	A	-	rs34714054		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:57404245delA	ENST00000505861.2	-	0	391																											CAGCTAGTCTAAAAAAAAAAA	0.333													5	3	---	---	---	---					
MEF2C-AS1	101929423	broad.mit.edu	37	5	88601441	88601442	+	RNA	INS	-	-	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:88601441_88601442insG	ENST00000514092.1	+	0	244																											CGAGGAACCAAGGGAGGAGTGA	0.351													2	4	---	---	---	---					
LINC01340	102546227	broad.mit.edu	37	5	96939985	96939985	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:96939985delG	ENST00000504012.1	+	0	159																											cttatagctaggcaacactaa	0.313													2	4	---	---	---	---					
CTC-551A13.1	0	broad.mit.edu	37	5	110337126	110337127	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:110337126_110337127insT	ENST00000507627.1	-	0	482																											TATGGCCTCTATTTTTTCAGCA	0.366													2	4	---	---	---	---					
STARD4-AS1	100505678	broad.mit.edu	37	5	110896573	110896574	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:110896573_110896574insT	ENST00000500779.2	+	0	283					NR_040093.1																						cttctcatgtcttttctgagcc	0.396													2	4	---	---	---	---					
LOC101927115	101927115	broad.mit.edu	37	5	151395938	151395938	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:151395938delG	ENST00000524295.1	+	0	199																											ctttttttctggaagagagtt	0.328													2	4	---	---	---	---					
RP11-541P9.3	0	broad.mit.edu	37	5	162826202	162826202	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:162826202delA	ENST00000503504.1	-	0	355				RP11-541P9.3_ENST00000458002.2_RNA																							catctctactaaaaaaaaaaa	0.478													2	4	---	---	---	---					
CTC-535M15.2	0	broad.mit.edu	37	5	164822951	164822951	+	RNA	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:164822951delC	ENST00000522189.1	+	0	21																											gccaccgcggccggccTAAGC	0.507													3	4	---	---	---	---					
CTC-535M15.2	0	broad.mit.edu	37	5	165054577	165054577	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:165054577delT	ENST00000522189.1	+	0	21																											ggagaaaatgtttttttgccc	0.413													2	4	---	---	---	---					
RP11-67M9.1	0	broad.mit.edu	37	5	165563300	165563300	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:165563300delT	ENST00000520075.1	+	0	251																											cctgaggtacttgcagacact	0.458													4	8	---	---	---	---					
CTD-2532K18.1	0	broad.mit.edu	37	5	174265988	174265989	+	RNA	INS	-	-	AAA	rs140440607		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:174265988_174265989insAAA	ENST00000502684.1	+	0	50																											TATTTCATTGCAAAAAAAAAAA	0.391													2	4	---	---	---	---					
THOC3	84321	broad.mit.edu	37	5	175365109	175365110	+	RNA	INS	-	-	A	rs143185541		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr5:175365109_175365110insA	ENST00000502813.1	-	0	87																											TACATACATTTAAAAAAAAAAA	0.441													3	4	---	---	---	---					
LY86-AS1	285780	broad.mit.edu	37	6	6420166	6420167	+	RNA	INS	-	-	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:6420166_6420167insC	ENST00000435641.1	-	0	639				LY86-AS1_ENST00000447858.1_RNA|LY86-AS1_ENST00000429345.1_RNA																							ttttccatataccccctaccct	0.401													2	4	---	---	---	---					
RP1-167F1.2	0	broad.mit.edu	37	6	19818656	19818656	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:19818656delT	ENST00000432171.2	-	0	263																											TGTCTGGCCCTTTTAGGCATT	0.348													2	4	---	---	---	---					
CMAHP	8418	broad.mit.edu	37	6	25135112	25135112	+	RNA	DEL	T	T	-	rs56114602		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:25135112delT	ENST00000377989.4	-	0	724																				NS(1)	1						tatttacagctttttaacaat	0.254													4	4	---	---	---	---					
HCG22	285834	broad.mit.edu	37	6	31022757	31022765	+	RNA	DEL	AGAAAGAAA	AGAAAGAAA	-	rs140042290	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:31022757_31022765delAGAAAGAAA	ENST00000426185.1	+	0	310					NR_003948.2																						aaagaaaaagagaaagaaaagaaagaaaC	0.502													3	4	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32523104	32523104	+	RNA	DEL	T	T	-	rs139174913		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:32523104delT	ENST00000411500.1	-	0	458					NR_001298.1																						cctggaagagttttttgattc	0.343													2	4	---	---	---	---					
ZNF451	26036	broad.mit.edu	37	6	57015568	57015571	+	Frame_Shift_Del	DEL	ATAT	ATAT	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:57015568_57015571delATAT	ENST00000370706.4	+	11	2904_2907	c.2660_2663delATAT	c.(2659-2664)cafs	p.HI887fs	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Frame_Shift_Del_p.HI887fs|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Intron	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	887					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACCATGACTCATATAGTCTTTGTA	0.363													7	98	---	---	---	---					
RP11-436D23.1	0	broad.mit.edu	37	6	98611659	98611660	+	RNA	DEL	TG	TG	-	rs71914034		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:98611659_98611660delTG	ENST00000607823.1	+	0	352																											atgccacGTTtgtgtgtgtgtg	0.540													4	2	---	---	---	---					
PDE10A	10846	broad.mit.edu	37	6	165808693	165808693	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr6:165808693delA	ENST00000366882.1	-	16	1606	c.1452delT	c.(1450-1452)gtfs	p.V484fs	PDE10A_ENST00000539869.2_Frame_Shift_Del_p.V494fs|PDE10A_ENST00000354448.4_Frame_Shift_Del_p.V484fs			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	484					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGGACCGATGAACCATGTAGA	0.368													16	63	---	---	---	---					
LINC01162	104355138	broad.mit.edu	37	7	20999626	20999627	+	RNA	DEL	TC	TC	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:20999626_20999627delTC	ENST00000447262.2	+	0	151																											cctccctccttctgtttcttcc	0.421													3	4	---	---	---	---					
RP5-1132H15.1	0	broad.mit.edu	37	7	65622158	65622158	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:65622158delA	ENST00000435524.2	-	0	29																											tgtctcaaagaaaaaaaaaaa	0.433													2	4	---	---	---	---					
SEMA3D	223117	broad.mit.edu	37	7	84628850	84628850	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:84628850delC	ENST00000284136.6	-	17	2283	c.2240delG	c.(2239-2241)gcfs	p.G747fs	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	747	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCACTTTGGGCCCCCCTTGTT	0.498													27	51	---	---	---	---					
AC002383.2	0	broad.mit.edu	37	7	89109165	89109166	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:89109165_89109166insT	ENST00000448260.2	+	0	290																											TAGATTATCTCTGTCATCACTC	0.337													3	4	---	---	---	---					
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1																						cttagtttacagtgaaaacaa	0.522													3	5	---	---	---	---					
LINC01510	100996266	broad.mit.edu	37	7	116254338	116254339	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:116254338_116254339insA	ENST00000458082.1	-	0	222																											AATACCTGCTTAAAAAAACAAA	0.376													2	4	---	---	---	---					
PTPRZ1	5803	broad.mit.edu	37	7	121691543	121691543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:121691543delG	ENST00000393386.2	+	24	6557	c.6146delG	c.(6145-6147)agfs	p.R2049fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Del_p.R1182fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2049	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAATGCAACAGGGAAAAGAAT	0.353													58	115	---	---	---	---					
U66059.58	0	broad.mit.edu	37	7	141986417	141986417	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:141986417delT	ENST00000486508.1	+	0	100																											cttgttcacctttttattctc	0.289													2	4	---	---	---	---					
EPHA1-AS1	285965	broad.mit.edu	37	7	143142220	143142221	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr7:143142220_143142221insT	ENST00000429289.1	+	0	206					NR_033897.1																						ACTTCTTTTGATTGATATTGGG	0.376													4	5	---	---	---	---					
NRG1	3084	broad.mit.edu	37	8	32617815	32617816	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:32617815_32617816insT	ENST00000338921.4	+	12	1700_1701	c.1183_1184insT	c.(1183-1185)cccfs	p.P395fs	NRG1_ENST00000287845.5_Frame_Shift_Ins_p.P358fs|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000405005.2_Frame_Shift_Ins_p.P387fs|NRG1_ENST00000523079.1_Frame_Shift_Ins_p.P384fs|NRG1_ENST00000519301.1_Frame_Shift_Ins_p.P337fs|NRG1_ENST00000521670.1_Frame_Shift_Ins_p.P387fs|NRG1_ENST00000287842.3_Frame_Shift_Ins_p.P384fs|NRG1_ENST00000356819.4_Frame_Shift_Ins_p.P392fs|NRG1_ENST00000539990.1_Frame_Shift_Ins_p.P230fs|NRG1_ENST00000287840.5_Frame_Shift_Ins_p.P387fs			Q02297	NRG1_HUMAN	neuregulin 1	387					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCCAACTGGGGGCCCAAGAGGA	0.535													14	87	---	---	---	---					
RP11-431M3.1	0	broad.mit.edu	37	8	34032585	34032586	+	RNA	INS	-	-	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:34032585_34032586insC	ENST00000518217.1	+	0	128																											tcccaaacgcacccccccactg	0.530													2	4	---	---	---	---					
LOC102724623	102724623	broad.mit.edu	37	8	64809031	64809032	+	RNA	INS	-	-	AC	rs59714772	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:64809031_64809032insAC	ENST00000524360.1	-	0	195				RP11-32K4.1_ENST00000523191.1_RNA|RP11-32K4.1_ENST00000521958.1_RNA																							TCCTTAAAAATacacacacaca	0.342													3	5	---	---	---	---					
RP11-142A23.1	0	broad.mit.edu	37	8	73113837	73113838	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:73113837_73113838insT	ENST00000523602.1	+	0	300																											gagacattgagttgcatggaac	0.480													3	4	---	---	---	---					
CTA-392E5.1	0	broad.mit.edu	37	8	86874996	86874996	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:86874996delA	ENST00000517368.1	+	0	81																											CATTCAAAAGAATCTTTGACC	0.269													2	4	---	---	---	---					
LOC102724710	102724710	broad.mit.edu	37	8	93644950	93644951	+	RNA	INS	-	-	TGTG	rs138735990	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:93644950_93644951insTGTG	ENST00000523284.1	-	0	272																											GGTAGGCTGCAtgtgtgtgtgt	0.366													3	3	---	---	---	---					
LINC00535	642924	broad.mit.edu	37	8	94615934	94615934	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:94615934delT	ENST00000501400.1	-	0	948					NR_033858.1																						ctactgtCAATTTTTATTTAA	0.294													2	4	---	---	---	---					
RP11-103H7.1	0	broad.mit.edu	37	8	127496516	127496517	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:127496516_127496517insT	ENST00000520171.1	+	0	99																											ttttagggttgtttttttttcc	0.371													3	3	---	---	---	---					
CCDC26	137196	broad.mit.edu	37	8	130604746	130604747	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr8:130604746_130604747insT	ENST00000446592.3	-	0	312																											CAAACTGCATCTGGGTTTTCTG	0.465													4	2	---	---	---	---					
EBLN3	100506710	broad.mit.edu	37	9	37086884	37086884	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:37086884delT	ENST00000429493.1	+	0	861					NR_036592.1																						TCAATCAGTGTTTGATCCAAC	0.403													2	4	---	---	---	---					
RP11-281A20.1	0	broad.mit.edu	37	9	120606234	120606234	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:120606234delA	ENST00000449730.1	-	0	336				RP11-281A20.2_ENST00000421509.2_lincRNA																							GTGCAGAGGCAAAATGCTACG	0.468													2	4	---	---	---	---					
ODF2	4957	broad.mit.edu	37	9	131246315	131246315	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr9:131246315delC	ENST00000303890.5	+	13	1599	c.1014delC	c.(1012-1014)cgfs	p.R338fs	ODF2_ENST00000434106.2_Frame_Shift_Del_p.R362fs|ODF2_ENST00000372791.3_Frame_Shift_Del_p.R343fs|ODF2_ENST00000448249.3_Frame_Shift_Del_p.R281fs|ODF2_ENST00000546203.1_Frame_Shift_Del_p.R343fs|ODF2_ENST00000351030.3_Frame_Shift_Del_p.R357fs|ODF2_ENST00000393533.2_Frame_Shift_Del_p.R362fs|ODF2_ENST00000372807.5_Frame_Shift_Del_p.R357fs|ODF2_ENST00000372814.3_Frame_Shift_Del_p.R406fs|ODF2_ENST00000444119.2_Frame_Shift_Del_p.R338fs|ODF2_ENST00000372796.4_Frame_Shift_Del_p.R362fs	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	362					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGAACAGTCGCCTGTGCATGC	0.542													14	14	---	---	---	---					
LINC01475	101927324	broad.mit.edu	37	10	101287542	101287543	+	RNA	INS	-	-	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:101287542_101287543insG	ENST00000548010.1	-	0	577				RP11-129J12.1_ENST00000452494.1_lincRNA																							CAAGGGCAATCGGGGGGCTAGG	0.703													2	4	---	---	---	---					
PRLHR	2834	broad.mit.edu	37	10	120353677	120353678	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr10:120353677_120353678insT	ENST00000239032.2	-	2	1217_1218	c.1079_1080insA	c.(1078-1080)cggfs	p.R360fs	PRLHR_ENST00000369169.1_Frame_Shift_Ins_p.R360fs	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	360					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		TATTCTGGCCATGGGGGGCTAT	0.604													12	21	---	---	---	---					
RP11-222N13.1	0	broad.mit.edu	37	11	15940348	15940349	+	RNA	INS	-	-	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:15940348_15940349insC	ENST00000530418.1	+	0	217																											gttctatttagcccccagatct	0.510													2	4	---	---	---	---					
RP11-587D21.4	0	broad.mit.edu	37	11	27822501	27822502	+	RNA	INS	-	-	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:27822501_27822502insC	ENST00000530663.1	-	0	147																											ATGACATGCCACCCCCTTGTTC	0.446													2	4	---	---	---	---					
RP4-594L9.2	0	broad.mit.edu	37	11	34560925	34560925	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:34560925delA	ENST00000527984.1	-	0	236																											GGGGAATGCTAAAGGTGAAAA	0.408													2	4	---	---	---	---					
LRRC4C	57689	broad.mit.edu	37	11	40136407	40136408	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:40136407_40136408insT	ENST00000278198.2	-	2	3398_3399	c.1435_1436insA	c.(1435-1437)tccfs	p.S479fs	LRRC4C_ENST00000528697.1_Frame_Shift_Ins_p.S479fs|LRRC4C_ENST00000527150.1_Frame_Shift_Ins_p.S479fs|LRRC4C_ENST00000530763.1_Frame_Shift_Ins_p.S479fs			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	479					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GACCACTGGAGTGGGACCCACA	0.505													11	23	---	---	---	---					
RP11-124G5.3	0	broad.mit.edu	37	11	41556803	41556804	+	RNA	INS	-	-	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:41556803_41556804insC	ENST00000526978.1	-	0	519																											ctatcacccctccccccgagtt	0.416													3	6	---	---	---	---					
RP11-124G5.3	0	broad.mit.edu	37	11	41687521	41687522	+	RNA	INS	-	-	A	rs138432977	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:41687521_41687522insA	ENST00000526978.1	-	0	149																											TTTGCAATCATAAAAAAAAAAG	0.342													6	1	---	---	---	---					
RP11-430H10.4	0	broad.mit.edu	37	11	45522159	45522159	+	RNA	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:45522159delC	ENST00000528445.1	-	0	530				RP11-958J22.1_ENST00000533315.1_RNA																							CCATCGGTTTCCATGGCAACC	0.498													2	4	---	---	---	---					
OR5M11	219487	broad.mit.edu	37	11	56310241	56310241	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:56310241delG	ENST00000528616.2	-	1	516	c.493delC	c.(493-495)tgfs	p.L165fs		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CAGAAGGTCAGGCGGAAGGTC	0.488													24	24	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66323749	66323750	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:66323749_66323750insA	ENST00000513398.1	+	0	901				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CCCAAGGGCCCAACCTTGGCTG	0.609													17	23	---	---	---	---					
RP11-626H12.1	0	broad.mit.edu	37	11	69846603	69846603	+	RNA	DEL	T	T	-	rs11313365		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:69846603delT	ENST00000534086.1	+	0	291																											ggggctgaaatttcaaagcgc	0.463													4	2	---	---	---	---					
AP003498.2	0	broad.mit.edu	37	11	71417528	71417531	+	RNA	DEL	AAAC	AAAC	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:71417528_71417531delAAAC	ENST00000411303.1	-	0	93_96																											ccagctaaataaacagacttaatt	0.461													3	5	---	---	---	---					
WTAPP1	100288077	broad.mit.edu	37	11	102673870	102673870	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:102673870delT	ENST00000525739.2	+	0	682					NR_038390.1																						Attctttttcttttttttttt	0.453													2	4	---	---	---	---					
LOC101928823	101928823	broad.mit.edu	37	11	112321441	112321442	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr11:112321441_112321442insT	ENST00000528496.1	+	0	231																											AGTTTTTAAACTTTTTTCCCCT	0.371													2	4	---	---	---	---					
RP11-1038A11.3	0	broad.mit.edu	37	12	5481653	5481654	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:5481653_5481654insT	ENST00000537192.1	+	0	414																											AAAATAATTCCGTGCTCCATTG	0.431													3	3	---	---	---	---					
PRH1	5554	broad.mit.edu	37	12	11035042	11035042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:11035042delC	ENST00000428168.2	-	4	330	c.293delG	c.(292-294)gafs	p.G99fs	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	99						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GGGATGGCCTCCCTGTTGGGG	0.632													82	126	---	---	---	---					
PRH2	5555	broad.mit.edu	37	12	11083451	11083451	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:11083451delG	ENST00000396400.3	+	3	329	c.291delG	c.(289-291)cafs	p.Q97fs	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Frame_Shift_Del_p.Q97fs	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	97			Q -> QGGQQQQGPPPPQGKPQGPPQQ (in allele PRH1-DB).			extracellular space	protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						CACCCCAACAGGGAGGCCATC	0.632													25	146	---	---	---	---					
RP11-405A12.2	0	broad.mit.edu	37	12	20006505	20006505	+	RNA	DEL	T	T	-	rs71977054		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:20006505delT	ENST00000535764.1	+	0	153																											tttttgtttgttttttttttt	0.378													2	4	---	---	---	---					
RP11-444D3.1	0	broad.mit.edu	37	12	24691533	24691538	+	RNA	DEL	ACACAC	ACACAC	-	rs71448014		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:24691533_24691538delACACAC	ENST00000538905.1	-	0	45																											CTGGATCTAAacacacacacacacac	0.403													3	3	---	---	---	---					
LRRK2	120892	broad.mit.edu	37	12	40619023	40619026	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:40619023_40619026delACAG	ENST00000298910.7	+	1	148_151	c.90_93delACAG	c.(88-93)aafs	p.KQ30fs	LRRK2_ENST00000343742.2_Frame_Shift_Del_p.KQ30fs	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	30					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGGAAGGAAAACAGATAGAAACGC	0.480													12	13	---	---	---	---					
RP11-352M15.1	0	broad.mit.edu	37	12	45904537	45904538	+	RNA	INS	-	-	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:45904537_45904538insC	ENST00000551229.2	-	0	367																											ggggaaaactgccccatgattc	0.460													2	4	---	---	---	---					
RP11-352M15.1	0	broad.mit.edu	37	12	45986469	45986470	+	RNA	INS	-	-	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:45986469_45986470insG	ENST00000551229.2	-	0	173																											AGACAGGCAGTGGGGGGGTGGC	0.416													2	4	---	---	---	---					
RP11-370I10.6	0	broad.mit.edu	37	12	48815982	48815983	+	RNA	INS	-	-	A	rs145871666		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:48815982_48815983insA	ENST00000548257.1	+	0	237																											TGCTTCTGTTGAAAAAAAAATA	0.366													2	4	---	---	---	---					
LINC01481	101928062	broad.mit.edu	37	12	70423181	70423182	+	RNA	INS	-	-	A	rs57342241	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:70423181_70423182insA	ENST00000549419.1	-	0	144																											TTCACAATGGCAAAAAAAAACT	0.371													3	4	---	---	---	---					
RP11-314D7.4	0	broad.mit.edu	37	12	73944717	73944718	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:73944717_73944718insT	ENST00000549058.1	-	0	97																											TTTCTGTTTTGTTTTTCCACAA	0.297													2	4	---	---	---	---					
RP11-114H23.1	0	broad.mit.edu	37	12	76136041	76136042	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:76136041_76136042insA	ENST00000552856.1	-	0	326																											tgcagctggttaaaaatgcaga	0.436													2	4	---	---	---	---					
RP1-34H18.1	0	broad.mit.edu	37	12	77815153	77815154	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:77815153_77815154insT	ENST00000550042.1	+	0	574																											TGAGGTCAAGGTTTTTGACTGC	0.386													2	4	---	---	---	---					
RP11-13A1.3	0	broad.mit.edu	37	12	89621025	89621026	+	RNA	DEL	CT	CT	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:89621025_89621026delCT	ENST00000549278.1	-	0	144																											TTTTCTTCCCCTATATTCAACC	0.361													2	4	---	---	---	---					
LINC01234	100506465	broad.mit.edu	37	12	114186210	114186211	+	RNA	INS	-	-	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:114186210_114186211insC	ENST00000547963.1	-	0	69																											ATGCAAACACACCCCCAGGCCA	0.525													2	4	---	---	---	---					
ZNF664-FAM101A	100533183	broad.mit.edu	37	12	124673933	124673933	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr12:124673933delA	ENST00000540762.1	+	0	444																											tcctactcataatgaggtcat	0.453													2	4	---	---	---	---					
NBEA	26960	broad.mit.edu	37	13	35644083	35644083	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:35644083delG	ENST00000540320.1	+	9	1812	c.1278delG	c.(1276-1278)ttfs	p.L426fs	NBEA_ENST00000310336.4_Frame_Shift_Del_p.L426fs|NBEA_ENST00000379939.2_Frame_Shift_Del_p.L426fs|NBEA_ENST00000400445.3_Frame_Shift_Del_p.L426fs			Q8NFP9	NBEA_HUMAN	neurobeachin	426						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATATTCATTTGGCAGAACATC	0.343													11	25	---	---	---	---					
LINC00284	121838	broad.mit.edu	37	13	44600890	44600891	+	RNA	INS	-	-	C	rs3751438	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:44600890_44600891insC	ENST00000423211.1	+	0	1436_1437																											AGGGCAAACAATCCCCCAAAAA	0.446													2	4	---	---	---	---					
SMIM2-AS1	101929212	broad.mit.edu	37	13	44803698	44803698	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:44803698delT	ENST00000437867.1	+	0	219																											TTCAGAAACCTTTTGTGTTTT	0.478													2	4	---	---	---	---					
LINC00393	100874156	broad.mit.edu	37	13	74183697	74183698	+	RNA	INS	-	-	T	rs71115604	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:74183697_74183698insT	ENST00000452852.1	-	0	31																											gttttggtttgttttttttttg	0.411													4	2	---	---	---	---					
RNF219-AS1	100874222	broad.mit.edu	37	13	79130255	79130256	+	RNA	INS	-	-	T	rs5804986	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr13:79130255_79130256insT	ENST00000607862.1	+	0	315				RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607860.1_RNA																							CAGAGGCAAGATTTTTTTTCCC	0.386													4	2	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138376	20138376	+	RNA	DEL	G	G	-	rs57620493		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:20138376delG	ENST00000548261.1	+	0	391																											ACAaaagaaagaaagaaagaa	0.388													4	2	---	---	---	---					
LINC00596	414767	broad.mit.edu	37	14	24394259	24394259	+	RNA	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:24394259delC	ENST00000559615.1	-	0	597																											tcatccatctcccccatcagt	0.473													2	4	---	---	---	---					
RP11-314P15.2	0	broad.mit.edu	37	14	26486085	26486085	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:26486085delT	ENST00000546412.1	-	0	258																											TATATTTAAATTGTAACTGAC	0.403													3	5	---	---	---	---					
NOVA1-AS1	387977	broad.mit.edu	37	14	27139538	27139539	+	RNA	DEL	TA	TA	-	rs34686561		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:27139538_27139539delTA	ENST00000552826.1	+	0	93																											aaatgtgaactatttttttcta	0.282													6	0	---	---	---	---					
RP11-966I7.3	0	broad.mit.edu	37	14	29288953	29288954	+	RNA	DEL	AC	AC	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:29288953_29288954delAC	ENST00000549013.1	-	0	171																											agtgctcaagacacacacacac	0.441													5	2	---	---	---	---					
PRKD1	5587	broad.mit.edu	37	14	30651476	30651477	+	RNA	INS	-	-	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:30651476_30651477insC	ENST00000508469.2	-	0	398																											TGTTGAGTTTTCCCCCATGTCA	0.366													2	4	---	---	---	---					
RP11-163M18.1	0	broad.mit.edu	37	14	44989525	44989526	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:44989525_44989526insT	ENST00000556228.1	+	0	229				RP11-163M18.1_ENST00000555433.1_RNA																							tgcctatatggtttgaggagtc	0.376													2	4	---	---	---	---					
LINC00871	100506412	broad.mit.edu	37	14	46915523	46915523	+	RNA	DEL	T	T	-	rs141474873	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:46915523delT	ENST00000556886.1	+	0	302					NR_102701.1																						ttacaggtagttagacaggca	0.438													2	4	---	---	---	---					
LINC00648	100506433	broad.mit.edu	37	14	48234291	48234291	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:48234291delA	ENST00000555985.1	-	0	2750					NR_039996.1																						TAGTAGAAATAAAAAAAATTA	0.299													2	4	---	---	---	---					
RP11-2G1.1	0	broad.mit.edu	37	14	48936228	48936228	+	RNA	DEL	C	C	-	rs4630460		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:48936228delC	ENST00000555693.1	-	0	123																											TTAAAATACTCTAAAAGATTT	0.303													4	2	---	---	---	---					
RP11-255G12.2	0	broad.mit.edu	37	14	51839067	51839068	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:51839067_51839068insT	ENST00000555649.1	-	0	43																											ccaaatacctatttttttccaa	0.431													2	4	---	---	---	---					
KTN1-AS1	100129075	broad.mit.edu	37	14	56002257	56002257	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:56002257delT	ENST00000554558.1	-	0	364																											CCTCCTGAGGTTTTTGCCTTA	0.343													2	4	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57501263	57501263	+	RNA	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:57501263delC	ENST00000554725.1	+	0	344																											CACTGTAGCACAGTGCAAGAC	0.403													2	4	---	---	---	---					
SYNJ2BP-COX16	100529257	broad.mit.edu	37	14	70830857	70830858	+	RNA	INS	-	-	TT	rs34346691		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:70830857_70830858insTT	ENST00000555276.1	-	0	85																											ggcgttttttgttttttttttt	0.525													3	3	---	---	---	---					
RP11-516J2.1	0	broad.mit.edu	37	14	76765813	76765814	+	RNA	INS	-	-	TC	rs61667829		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:76765813_76765814insTC	ENST00000555465.1	-	0	242																											tttcttttttttttctttcttt	0.277													2	4	---	---	---	---					
RP11-526N18.1	0	broad.mit.edu	37	14	80418947	80418948	+	RNA	DEL	AT	AT	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:80418947_80418948delAT	ENST00000554307.1	-	0	366																											acacacacacatacacacacac	0.386													3	3	---	---	---	---					
TSHR	7253	broad.mit.edu	37	14	81422175	81422175	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:81422175delC	ENST00000541158.2	+	2	473	c.151delC	c.(151-153)cgfs	p.P52fs	TSHR_ENST00000554435.1_Frame_Shift_Del_p.P52fs|TSHR_ENST00000342443.6_Frame_Shift_Del_p.P52fs|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000554263.1_Frame_Shift_Del_p.P52fs|TSHR_ENST00000298171.2_Frame_Shift_Del_p.P52fs			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	52			P -> T (does not contribute to the genetic susceptibility to Graves disease; dbSNP:rs2234919).		cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCCCAGCTTACCGCCCAGTAC	0.587			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						47	328	---	---	---	---					
RP11-753D20.1	0	broad.mit.edu	37	14	88605947	88605947	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:88605947delA	ENST00000556546.1	-	0	127																											CTGCTGTGCCAAAAAAAAAAG	0.428													2	4	---	---	---	---					
RP11-33N16.3	0	broad.mit.edu	37	14	90090667	90090667	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:90090667delT	ENST00000555070.1	-	0	170																											ACCTGGCTCCTTTTGGGGGGA	0.567													2	4	---	---	---	---					
CHORDC2P	317775	broad.mit.edu	37	14	90203623	90203623	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:90203623delA	ENST00000555070.1	-	0	170																											GTCTACATGGAACAACTTTTT	0.333													6	5	---	---	---	---					
RP11-433J8.2	0	broad.mit.edu	37	14	97215958	97215958	+	RNA	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr14:97215958delC	ENST00000556669.1	+	0	130																											ttgacaattgccggtctttgt	0.353													3	3	---	---	---	---					
LOC101927079	101927079	broad.mit.edu	37	15	22333702	22333703	+	RNA	INS	-	-	G	rs77946411	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:22333702_22333703insG	ENST00000558896.1	+	0	583																											aacaagatatatctctttttgt	0.317													8	5	---	---	---	---					
LOC101927079	101927079	broad.mit.edu	37	15	22343565	22343565	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:22343565delG	ENST00000558896.1	+	0	583																											TCTGAGTAAAGACGGAAAATA	0.353													2	4	---	---	---	---					
NUTM1	256646	broad.mit.edu	37	15	34648871	34648871	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:34648871delC	ENST00000537011.1	+	8	3044	c.2662delC	c.(2662-2664)ccfs	p.P888fs	NUTM1_ENST00000438749.3_Frame_Shift_Del_p.P878fs|NUTM1_ENST00000333756.4_Frame_Shift_Del_p.P860fs					NUT midline carcinoma, family member 1																		AACCCTTCCACCCACATGCCA	0.532													48	39	---	---	---	---					
CYP19A1	1588	broad.mit.edu	37	15	51510758	51510758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:51510758delG	ENST00000396402.1	-	6	876	c.723delC	c.(721-723)tafs	p.Y241fs	CYP19A1_ENST00000260433.2_Frame_Shift_Del_p.Y241fs|CYP19A1_ENST00000396404.4_Frame_Shift_Del_p.Y241fs|CYP19A1_ENST00000559878.1_Frame_Shift_Del_p.Y241fs|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	241					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CATACTTTTTGTATAGCCAAG	0.358													29	15	---	---	---	---					
DNM1P35	100128285	broad.mit.edu	37	15	76024753	76024754	+	RNA	INS	-	-	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:76024753_76024754insG	ENST00000501931.1	-	0	237					NR_024595.3																						GGGGCCAGGTTGGGGGGTTGCG	0.663													2	4	---	---	---	---					
LINC01584	101929701	broad.mit.edu	37	15	86656755	86656755	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr15:86656755delG	ENST00000563990.2	-	0	103																											gacttcaggtggtccacctgc	0.547													4	2	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5925847	5925848	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:5925847_5925848insT	ENST00000569895.1	+	0	436																											AAGAATCCCACttttttttttt	0.455													2	4	---	---	---	---					
DCUN1D3	123879	broad.mit.edu	37	16	20871266	20871267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr16:20871266_20871267insC	ENST00000324344.3	-	3	1141_1142	c.856_857insG	c.(856-858)aggfs	p.R286fs	DCUN1D3_ENST00000563934.1_Frame_Shift_Ins_p.R286fs|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	286					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		ACCTCTCCCTTCCCCTTCTCTT	0.574													15	25	---	---	---	---					
RP11-697E22.2	0	broad.mit.edu	37	17	36035632	36035632	+	RNA	DEL	T	T	-	rs66473229		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:36035632delT	ENST00000586163.1	+	0	590				RP11-697E22.2_ENST00000586950.1_RNA																							GGAtttttccttttttttttt	0.527													2	4	---	---	---	---					
ETV4	2118	broad.mit.edu	37	17	41648143	41648144	+	RNA	DEL	AG	AG	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:41648143_41648144delAG	ENST00000588996.1	+	0	31																											atactGGCCTAGAAGCTTGCtg	0.465													2	4	---	---	---	---					
RP11-700H6.1	0	broad.mit.edu	37	17	49015410	49015411	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:49015410_49015411insA	ENST00000501718.2	-	0	1317																											gatcccatctcaaaaaaaaaaa	0.426													2	4	---	---	---	---					
RP11-60A24.3	0	broad.mit.edu	37	17	55905188	55905189	+	RNA	DEL	AA	AA	-	rs72201139		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:55905188_55905189delAA	ENST00000580960.1	-	0	254																											actctgtctcaaaaaaaaaaaa	0.455													2	4	---	---	---	---					
LINC01476	101927728	broad.mit.edu	37	17	57547713	57547713	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:57547713delG	ENST00000584262.1	-	0	583																											ccagcactttgggaagctgag	0.478													5	3	---	---	---	---					
LINC00674	100499466	broad.mit.edu	37	17	66111184	66111185	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:66111184_66111185insT	ENST00000435469.2	+	0	220																											tttttcttttctttttttttgg	0.455													3	3	---	---	---	---					
LINC01028	101928141	broad.mit.edu	37	17	68063664	68063664	+	RNA	DEL	G	G	-	rs138969498	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:68063664delG	ENST00000586373.1	+	0	473				AC002539.1_ENST00000435112.1_RNA|AC002539.1_ENST00000587325.1_RNA																							gtgtgtgtgtgtgtgtTTCCA	0.403													2	4	---	---	---	---					
RP11-143K11.5	0	broad.mit.edu	37	17	71186336	71186337	+	RNA	DEL	AC	AC	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr17:71186336_71186337delAC	ENST00000580671.1	+	0	501																											CTGACTCAGAacacacacacac	0.485													2	4	---	---	---	---					
RP11-161I6.2	0	broad.mit.edu	37	18	2127932	2127932	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:2127932delG	ENST00000579097.1	-	0	132																											cctttttgaagaacaatgatc	0.348													5	2	---	---	---	---					
RP11-92G19.2	0	broad.mit.edu	37	18	5082414	5082414	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:5082414delG	ENST00000583985.1	+	0	59																											tccattttttgtttatcattt	0.323													2	4	---	---	---	---					
AQP4-AS1	147429	broad.mit.edu	37	18	24301818	24301818	+	RNA	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:24301818delC	ENST00000582605.1	+	0	305				AQP4-AS1_ENST00000579964.1_RNA																							AAAGAGGCCTCCAGAGTGGTA	0.483													2	4	---	---	---	---					
LINC01538	400654	broad.mit.edu	37	18	61915010	61915010	+	RNA	DEL	T	T	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr18:61915010delT	ENST00000588074.1	-	0	443				RP11-146N18.1_ENST00000589376.1_lincRNA	NR_033983.1																						tacactgatcttttgatccac	0.413													2	4	---	---	---	---					
MIR7-3HG	284424	broad.mit.edu	37	19	4772211	4772211	+	RNA	DEL	C	C	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:4772211delC	ENST00000586721.1	+	0	545																											aaccagagctccccacaactg	0.507													5	2	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9046257	9046258	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:9046257_9046258delAC	ENST00000397910.4	-	5	35576_35577	c.35373_35374delGT	c.(35371-35376)gtttfs	p.VF11791fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11793	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						ACTTGAGGAAACACAGTTGAAG	0.480													9	93	---	---	---	---					
LOC100420587	100420587	broad.mit.edu	37	19	29131115	29131115	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:29131115delG	ENST00000592347.1	-	0	642				AC005394.1_ENST00000585394.1_lincRNA																							TCTTAGGGTCGGGGGCTACCT	0.517													2	4	---	---	---	---					
CTC-360P9.4	0	broad.mit.edu	37	19	32514607	32514608	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:32514607_32514608insA	ENST00000590053.1	-	0	77																											AGGTGGGACCCAGAGGGACAGG	0.515													6	3	---	---	---	---					
CEACAM22P	388550	broad.mit.edu	37	19	45046630	45046631	+	RNA	INS	-	-	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:45046630_45046631insG	ENST00000446628.1	-	0	1287					NR_027754.1																						gggtcttggcagggggggcatt	0.450													3	4	---	---	---	---					
SPACA6P	147650	broad.mit.edu	37	19	52199369	52199369	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:52199369delG	ENST00000573266.1	+	0	1212					NR_024330.1																						TCAGGGCGCTGGGGAGCTGCA	0.552													2	4	---	---	---	---					
ZNF671	79891	broad.mit.edu	37	19	58233677	58233699	+	Splice_Site	DEL	CACTCACCAGGTCTAAGTCCCCT	CACTCACCAGGTCTAAGTCCCCT	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr19:58233677_58233699delCACTCACCAGGTCTAAGTCCCCT	ENST00000317398.6	-	3	468_484	c.388_splice	c.e3+1	p.125_splice	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000596939.1_3'UTR|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_Splice_Site_p.27_splice	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCCCGATGTCCACTCACCAGGTCTAAGTCCCCTCTGGGCCTCT	0.516													30	43	---	---	---	---					
NRSN2-AS1	100507459	broad.mit.edu	37	20	319222	319223	+	RNA	DEL	TG	TG	-	rs111540221		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:319222_319223delTG	ENST00000442637.1	-	0	125																											ccgcacctgatgtgtgtgtgtg	0.525													2	4	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29587092	29587094	+	RNA	DEL	GTG	GTG	-	rs144007774	by1000genomes	TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:29587092_29587094delGTG	ENST00000432067.1	-	0	152																											caggagttttgtggtttcagtga	0.365													2	4	---	---	---	---					
RP5-1121H13.4	0	broad.mit.edu	37	20	40655387	40655387	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:40655387delG	ENST00000431589.1	+	0	131																											GATCATCATTGGGGGCACTTA	0.557													3	6	---	---	---	---					
APCDD1L-AS1	149773	broad.mit.edu	37	20	57159566	57159567	+	RNA	DEL	AC	AC	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:57159566_57159567delAC	ENST00000427140.1	+	0	943					NR_034147.1																						CTTTTGGGGAACACACACACAT	0.391													2	4	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58717012	58717013	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr20:58717012_58717013insA	ENST00000432910.1	+	0	153					NR_046099.1																						tgggcaccccccaggcagtgca	0.510													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11063160	11063161	+	RNA	INS	-	-	A	rs147852817		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr21:11063160_11063161insA	ENST00000470054.1	-	0	324									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)		aaacgctatccaaaaaatgcag	0.282													4	6	---	---	---	---					
MIR99AHG	388815	broad.mit.edu	37	21	17779865	17779865	+	RNA	DEL	A	A	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr21:17779865delA	ENST00000458468.1	+	0	469					NR_027790.1																						ggaaggagagaaaaaaggaag	0.353													2	4	---	---	---	---					
AF131217.1	0	broad.mit.edu	37	21	29984050	29984051	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr21:29984050_29984051insA	ENST00000433310.1	-	0	294																											gccaacatggcaaaacctcatc	0.515													2	4	---	---	---	---					
AP000282.2	0	broad.mit.edu	37	21	34337429	34337430	+	RNA	DEL	AC	AC	-	rs67637880		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr21:34337429_34337430delAC	ENST00000454622.1	-	0	201				AP000282.2_ENST00000420356.1_RNA																							ATTCTCATTTacacacacacac	0.371													2	4	---	---	---	---					
ISX-AS1	101926957	broad.mit.edu	37	22	35409254	35409255	+	RNA	INS	-	-	T	rs67016388		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chr22:35409254_35409255insT	ENST00000448318.4	-	0	836																											TCATtagattcttttttttttt	0.361													2	4	---	---	---	---					
RP11-1M18.1	0	broad.mit.edu	37	X	6616758	6616759	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:6616758_6616759insT	ENST00000438499.1	-	0	252																											tttttcttttcttttttttttc	0.431													2	4	---	---	---	---					
RP6-1O2.1	0	broad.mit.edu	37	X	10288252	10288253	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:10288252_10288253insA	ENST00000454113.1	+	0	553																											TTTACAAAATTAAAAAAAAACA	0.351													2	4	---	---	---	---					
RP1-154K9.2	0	broad.mit.edu	37	X	42397989	42397990	+	RNA	INS	-	-	T			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:42397989_42397990insT	ENST00000411879.1	+	0	523																											TCATTCTGTCATTTTTTTTTTT	0.446													2	4	---	---	---	---					
LOC101927501	101927501	broad.mit.edu	37	X	43049057	43049057	+	RNA	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:43049057delG	ENST00000440955.1	+	0	212																											agatgaaagtgcctggggatt	0.463													2	4	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73505818	73505819	+	RNA	INS	-	-	G			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:73505818_73505819insG	ENST00000429124.1	-	0	174																											TGTAGGAAGGAGGGGGGCAAGG	0.416													3	3	---	---	---	---					
NXF5	55998	broad.mit.edu	37	X	101096941	101096942	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:101096941_101096942delGG	ENST00000537026.1	-	4	414_415	c.55_56delCC	c.(55-57)tfs	p.P19fs	NXF5_ENST00000361708.2_Frame_Shift_Del_p.P19fs|NXF5_ENST00000473265.2_Frame_Shift_Del_p.P19fs	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	19	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TATCCCATAAGGAATCTAAGCA	0.411													64	205	---	---	---	---					
RP4-769N13.6	0	broad.mit.edu	37	X	101862416	101862417	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:101862416_101862417insA	ENST00000476910.1	+	0	739				RP4-769N13.7_ENST00000602441.1_RNA																							gtgttctacacaatgtttcagt	0.322													5	2	---	---	---	---					
RNF128	79589	broad.mit.edu	37	X	105937328	105937328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:105937328delG	ENST00000324342.3	+	1	261	c.96delG	c.(94-96)gtfs	p.V32fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	47						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTGCCTATGTGACTGTGACTT	0.383													73	114	---	---	---	---					
RP11-308D16.4	0	broad.mit.edu	37	X	136045835	136045836	+	RNA	INS	-	-	T	rs72197017		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:136045835_136045836insT	ENST00000424306.1	+	0	2052																											GCAGTATTCAAttttttttttt	0.431													2	4	---	---	---	---					
RP3-526F5.2	0	broad.mit.edu	37	X	142884771	142884772	+	RNA	INS	-	-	A			TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:142884771_142884772insA	ENST00000423667.1	+	0	105																											aggagaaggaggaggaggagga	0.475													2	4	---	---	---	---					
U52111.14	0	broad.mit.edu	37	X	153016565	153016566	+	RNA	INS	-	-	T	rs71918981		TCGA-17-Z022-01A-01W-0746-08	TCGA-17-Z022-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f07e5b3-bf70-4690-84ba-a9eace798a24	61862004-a35f-4af5-95c0-ee3de1158131	g.chrX:153016565_153016566insT	ENST00000434284.1	-	0	71																											gtaaaatacccttttttttttt	0.455													4	4	---	---	---	---					
