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
CNKSR1	10256	broad.mit.edu	37	1	26514781	26514781	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:26514781C>T	ENST00000531191.1	+	16	1744	c.737C>T	c.(736-738)cCc>cTc	p.P246L	CNKSR1_ENST00000374253.5_Missense_Mutation_p.P511L|CNKSR1_ENST00000361530.6_Missense_Mutation_p.P504L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	511	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCGGGCCCCCCCACCCCGA	0.602000													15	40					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976146	41976146	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:41976146C>T	ENST00000372584.1	-	8	8208	c.7194G>A	c.(7192-7194)gaG>gaA	p.E2398E	HIVEP3_ENST00000429157.2_Silent_p.E2398E|HIVEP3_ENST00000372583.1_Silent_p.E2399E|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Silent_p.E2399E	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2399					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAACCCTGTCCTCAGGCTGAT	0.612000													6	9					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													6	75					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924119	45924119	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:45924119C>T	ENST00000395629.2	+	5	1101	c.771C>T	c.(769-771)atC>atT	p.I257I	MAPK8IP1_ENST00000241014.2_Silent_p.I267I			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	267	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GAGACCGAATCCACTACCAGG	0.687000													10	37					0	0	1	0	0
CLTB	1212	broad.mit.edu	37	5	175823530	175823530	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:175823530G>A	ENST00000310418.4	-	5	673	c.468C>T	c.(466-468)atC>atT	p.I156I	CLTB_ENST00000345807.2_Intron	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	156					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		CTTTGTCAGCGATCCTTgagg	0.532000													11	27					0	0	1	0	0
FAM3B	54097	broad.mit.edu	37	21	42694977	42694977	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr21:42694977G>A	ENST00000398652.3	+	3	330	c.264G>A	c.(262-264)gaG>gaA	p.E88E	FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Silent_p.E72E|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000357985.2_Silent_p.E49E			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	49					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GCATCGGGGAGAGGCCTGTCC	0.612000													26	57					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40419772	40419772	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:40419772G>A	ENST00000221347.6	-	6	3229	c.3222C>T	c.(3220-3222)ccC>ccT	p.P1074P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1074	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACTCCCGGAAGGGCCCCTTGG	0.642000													40	79					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954580	70954580	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:70954580C>T	ENST00000334414.6	-	17	4347	c.4303G>A	c.(4303-4305)Gaa>Aaa	p.E1435K	PTPRB_ENST00000551525.1_Missense_Mutation_p.E1434K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1127K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1127K|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1217K|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1127K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1347K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1217	Fibronectin type-III 16.				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)			TTCCAGTTTTCCTTCTTTGTG	0.498000													16	46					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1437288	1437288	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:1437288G>A	ENST00000345913.4	+	4	349	c.258G>A	c.(256-258)gtG>gtA	p.V86V	TPO_ENST00000497517.2_Intron|TPO_ENST00000539820.1_Silent_p.V86V|TPO_ENST00000346956.3_Silent_p.V86V|TPO_ENST00000337415.3_Silent_p.V86V|TPO_ENST00000382269.3_Silent_p.V86V|TPO_ENST00000329066.4_Silent_p.V86V|TPO_ENST00000382201.3_Silent_p.V86V|TPO_ENST00000349624.3_Silent_p.V86V|TPO_ENST00000382198.1_Silent_p.V86V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	86					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAAGCGGAGTGATTGCCCGAG	0.418000													15	26					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47454723	47454723	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:47454723G>A	ENST00000398879.1	-	11	921	c.555C>T	c.(553-555)ctC>ctT	p.L185L	TNS3_ENST00000355730.3_Silent_p.L185L|TNS3_ENST00000311160.9_Silent_p.L185L|TNS3_ENST00000442536.2_Silent_p.L185L|TNS3_ENST00000458317.2_Silent_p.L185L			Q68CZ2	TENS3_HUMAN	tensin 3	185	C2 tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGTGCCGTGGAGGATGACAA	0.587000													9	15					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9010668	9010668	+	Missense_Mutation	SNP	G	G	A	rs12971602		TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:9010668G>A	ENST00000397910.4	-	38	39196	c.38993C>T	c.(38992-38994)tCc>tTc	p.S12998F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13000					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						GGGGAGGGAGGATGGAGTCCC	0.502000													3	20					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434846	42434846	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr15:42434846G>A	ENST00000397272.3	-	19	2306	c.2215C>T	c.(2215-2217)Cct>Tct	p.P739S	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.P737S	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	737	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		ATGTCCTCAGGGCCCACCTCG	0.587000													30	21					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021683	51021683	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:51021683C>T	ENST00000599957.1	-	3	1484	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	LRRC4B_ENST00000389201.3_Silent_p.Q429Q			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	429	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGCCCGTGTCCTGCACGGTGA	0.677000													27	51					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802912	159802912	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:159802912A>G	ENST00000289707.5	+	3	763	c.614A>G	c.(613-615)aAc>aGc	p.N205S	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Missense_Mutation_p.N96S	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	205	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					ATTGTCTCCAACCCTGTCAGC	0.547000													28	63					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160098530	160098530	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:160098530C>T	ENST00000361216.3	+	9	1195	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.S369F	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	369					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCTCCACGTCCACCATCTGC	0.602000													45	85					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1487193	1487193	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:1487193C>T	ENST00000300954.5	-	7	863	c.802G>A	c.(802-804)Gtg>Atg	p.V268M		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	268	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		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)		GGGCCGTCCACCGTGCGGCCG	0.697000													10	20					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45644574	45644574	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:45644574G>A	ENST00000267430.5	+	14	2702	c.2617G>A	c.(2617-2619)Ggt>Agt	p.G873S	FANCM_ENST00000542564.2_Missense_Mutation_p.G847S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	873					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAATAATCACGGTATTATAGA	0.259000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	17					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	369909	369909	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:369909C>T	ENST00000256509.2	+	5	899	c.257C>T	c.(256-258)tCg>tTg	p.S86L	CHL1_ENST00000397491.2_Missense_Mutation_p.S86L	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	86	Ig-like C2-type 1.				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)		ATAATTCCATCGAACAATTCA	0.383000													27	45					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156124379	156124379	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:156124379C>T	ENST00000368285.3	+	2	277	c.10C>T	c.(10-12)Cca>Tca	p.P4S	SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000355014.2_Missense_Mutation_p.P4S|SEMA4A_ENST00000368282.1_Missense_Mutation_p.P4S|SEMA4A_ENST00000368286.2_5'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	4					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CATGGCCCTCCCAGCCCTGGG	0.667000													5	17					0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201785843	201785843	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:201785843G>A	ENST00000234296.2	-	14	1416	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	389					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GGATGAGAAGGAAGAGTTCTA	0.363000													20	16					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10478756	10478756	+	Missense_Mutation	SNP	G	G	A	rs150331673		TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:10478756G>A	ENST00000525621.1	-	5	921	c.440C>T	c.(439-441)gCc>gTc	p.A147V	TYK2_ENST00000264818.6_Missense_Mutation_p.A147V|TYK2_ENST00000529370.1_Missense_Mutation_p.A147V|TYK2_ENST00000524462.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	147	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CTCAAATGAGGCTGGGTCCAG	0.587000													15	21					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40419773	40419773	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:40419773G>T	ENST00000221347.6	-	6	3228	c.3221C>A	c.(3220-3222)cCc>cAc	p.P1074H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1074	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCCCGGAAGGGCCCCTTGGG	0.642000													39	79					2.87052e-16	2.9419e-16	1	1	0
KALRN	8997	broad.mit.edu	37	3	123983355	123983355	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:123983355T>A	ENST00000360013.3	+	4	395	c.268T>A	c.(268-270)Tgc>Agc	p.C90S	KALRN_ENST00000240874.3_Missense_Mutation_p.C90S|KALRN_ENST00000460856.1_Missense_Mutation_p.C90S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	90	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGAGGACGTGTGCAAACGTGG	0.557000													14	25					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30954253	30954253	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:30954253T>C	ENST00000295055.8	-	21	2116	c.1940A>G	c.(1939-1941)aAc>aGc	p.N647S	CAPN13_ENST00000534090.2_Missense_Mutation_p.N647S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	647	EF-hand 2.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CTTAGAGAGGTTGCGGAAGGT	0.562000													10	17					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390085	150390085	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:150390085G>A	ENST00000223293.5	+	3	805	c.711G>A	c.(709-711)aaG>aaA	p.K237K		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	237						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAGAGTAAAGGAATTCAAAC	0.398000													17	48					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57334169	57334169	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:57334169C>T	ENST00000326441.9	-	6	880	c.517G>A	c.(517-519)Gac>Aac	p.D173N	PEG3_ENST00000598410.1_Missense_Mutation_p.D48N|ZIM2_ENST00000601070.1_Missense_Mutation_p.D48N|PEG3_ENST00000593695.1_Missense_Mutation_p.D47N|ZIM2_ENST00000593711.1_Missense_Mutation_p.D48N|PEG3_ENST00000423103.2_Missense_Mutation_p.D173N|ZIM2_ENST00000593931.1_Missense_Mutation_p.D48N|ZIM2_ENST00000599935.1_Missense_Mutation_p.D48N|ZIM2_ENST00000221722.5_Missense_Mutation_p.D48N|ZIM2_ENST00000391708.3_Missense_Mutation_p.D48N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	173					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCTCCATGTCTCTGCTTCTG	0.532000													12	23					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215865727	215865727	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:215865727G>A	ENST00000272895.7	-	22	3100	c.2881C>T	c.(2881-2883)Cct>Tct	p.P961S	ABCA12_ENST00000389661.4_Missense_Mutation_p.P643S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	961					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)		CTGTTAGAAGGAAGCTTAAAA	0.403000													35	31					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182456	57182456	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:57182456C>T	ENST00000504228.1	+	6	2893	c.2788C>T	c.(2788-2790)Cct>Tct	p.P930S	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P923S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P930S			Q6ZU35	K1211_HUMAN	KIAA1211	930	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGCTCTGTTCCTGTGGCCCA	0.652000													28	33					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572878	38572878	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:38572878T>C	ENST00000222345.6	+	3	1182	c.673T>C	c.(673-675)Ttc>Ctc	p.F225L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	225					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTGAACGAGTTCCGCAGCGA	0.701000													20	80					0	0	1	0	0
PRRT2	112476	broad.mit.edu	37	16	29825173	29825173	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:29825173G>A	ENST00000300797.6	+	2	972	c.798G>A	c.(796-798)cgG>cgA	p.R266R	PRRT2_ENST00000358758.7_Silent_p.R266R|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567659.1_Silent_p.R266R			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	266					response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						AGAAACCTCGGGACTACATCA	0.627000													33	47					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30966311	30966311	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:30966311C>T	ENST00000295055.8	-	13	1559	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	CAPN13_ENST00000534090.2_Silent_p.Q461Q	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	461					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTCTCCGTGTCTGTGCAACCA	0.453000													55	106					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170218	113170218	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr9:113170218G>A	ENST00000401783.2	-	38	7998	c.7662C>T	c.(7660-7662)atC>atT	p.I2554I	SVEP1_ENST00000297826.5_Silent_p.I480I|SVEP1_ENST00000374469.1_Silent_p.I2531I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2554	Sushi 20.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATCACAGTGGATGGCATTGC	0.493000													13	8					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111667778	111667778	+	Splice_Site	SNP	G	G	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:111667778G>T	ENST00000431670.2	+	10	2898		c.e10-1		PHLDB2_ENST00000412622.1_Splice_Site|PHLDB2_ENST00000393923.3_Splice_Site|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000481953.1_Splice_Site|PHLDB2_ENST00000393925.3_Splice_Site	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2							cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCTCCTTTTAGGGCTATATCA	0.438000													19	53					5.03518e-11	5.14213e-11	1	1	0
NELFE	7936	broad.mit.edu	37	6	31922134	31922134	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:31922134G>A	ENST00000375429.3	-	8	1054	c.828C>T	c.(826-828)ctC>ctT	p.L276L	NELFE_ENST00000375425.5_Silent_p.L283L|NELFE_ENST00000444811.2_Silent_p.L246L	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		AGGCCCCACGGAGAAGGGTGG	0.507000													42	80					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95080859	95080859	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:95080859C>T	ENST00000553947.1	+	5	1044	c.156C>T	c.(154-156)agC>agT	p.S52S	SERPINA3_ENST00000467132.1_Silent_p.S27S|SERPINA3_ENST00000393080.4_Silent_p.S27S|SERPINA3_ENST00000393078.3_Silent_p.S27S|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	27					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACCCTAACAGCCCACTTGACG	0.567000													40	82					0	0	1	0	0
PANK3	79646	broad.mit.edu	37	5	167990967	167990967	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:167990967C>T	ENST00000239231.6	-	4	1055	c.739G>A	c.(739-741)Gac>Aac	p.D247N	PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	247					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		ACCAGCTTGTCAGCTTGTGTG	0.418000													39	82					0	0	1	0	0
SSR4	6748	broad.mit.edu	37	X	153062924	153062924	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chrX:153062924C>T	ENST00000320857.3	+	4	1282	c.198C>T	c.(196-198)ctC>ctT	p.L66L	SSR4_ENST00000370086.3_Silent_p.L66L|SSR4_ENST00000370085.3_Intron|SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370087.1_Silent_p.L66L	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	66					intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(2)	4	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)					ACATGGCTCTCTATGCTGACG	0.612000													29	4					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115091186	115091186	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr13:115091186C>T	ENST00000361283.1	+	3	2178	c.1869C>T	c.(1867-1869)aaC>aaT	p.N623N		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	623	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AGAAAGACAACCAAGAGAGCT	0.388000													30	58					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21205466	21205466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:21205466G>A	ENST00000342679.4	+	6	660	c.411G>A	c.(409-411)tgG>tgA	p.W137*	MAP2K3_ENST00000361818.5_Nonsense_Mutation_p.W108*|MAP2K3_ENST00000316920.6_Nonsense_Mutation_p.W108*	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	137	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GAGACGTGTGGATCTGCATGG	0.597000													6	55					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060977	189060977	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:189060977G>A	ENST00000332517.3	+	1	405	c.265G>A	c.(265-267)Gag>Aag	p.E89K		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	89					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCTGCAGAGCGAGGATGAGCA	0.662000													25	65					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146658627	146658627	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:146658627C>T	ENST00000254090.4	-	9	1842	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q	RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Intron|FMO5_ENST00000369272.3_3'UTR	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	485						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GATAGCTTTTCGAGCCCCATC	0.493000													21	38					0	0	1	0	0
DAPL1	92196	broad.mit.edu	37	2	159672219	159672219	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:159672219C>T	ENST00000309950.3	+	4	266	c.210C>T	c.(208-210)ctC>ctT	p.L70L	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	70					apoptosis|cell differentiation					prostate(1)	1						ACCTTTAGCTCAACTATAAAT	0.393000													34	91					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144880851	144880851	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:144880851G>A	ENST00000369359.4	-	29	4223	c.4185C>T	c.(4183-4185)tcC>tcT	p.S1395S	PDE4DIP_ENST00000369356.4_Silent_p.S1259S|PDE4DIP_ENST00000369354.3_Silent_p.S1259S|PDE4DIP_ENST00000313382.9_Silent_p.S1215S|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.S1395S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1259					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)		GCTTCACCAAGGATTCACCTG	0.527000			T	PDGFRB	MPD								28	158					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117725	58117725	+	Missense_Mutation	SNP	C	C	T	rs144027172	by1000genomes	TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:58117725C>T	ENST00000332854.6	+	3	1052	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCATTTAGTCGCAAAACTCA	0.438000													35	43					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419525	10419525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:10419525C>T	ENST00000226207.5	-	4	433	c.339G>A	c.(337-339)tgG>tgA	p.W113*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	113	Myosin head-like.					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						CGTAGATCATCCAGGCTGCGT	0.438000													63	62					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113933893	113933893	+	Silent	SNP	A	A	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:113933893A>T	ENST00000297405.5	-	10	1840	c.1596T>A	c.(1594-1596)gtT>gtA	p.V532V	CSMD3_ENST00000455883.2_Silent_p.V428V|CSMD3_ENST00000352409.3_Silent_p.V532V|CSMD3_ENST00000343508.3_Silent_p.V492V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	532	Sushi 2.					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						AAGCAGCAAAAACTTCAGCTA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			32	32					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086616	9086616	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:9086616G>A	ENST00000397910.4	-	1	5402	c.5199C>T	c.(5197-5199)tcC>tcT	p.S1733S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1733	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCAAGAGAGGAGGAGAGAG	0.493000													27	41					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059700	152059700	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:152059700C>T	ENST00000368806.1	-	3	522	c.458G>A	c.(457-459)gGa>gAa	p.G153E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	153							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTGTTATTTCCAACTGCTCC	0.463000													24	40					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101348269	101348269	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:101348269C>T	ENST00000534062.1	-	1	2915	c.2857G>A	c.(2857-2859)Gat>Aat	p.D953N	MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	953										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GAGGCTAGATCCTCTGTGTTG	0.527000													41	61					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61815503	61815503	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr10:61815503C>T	ENST00000280772.1	-	42	13169	c.12978G>A	c.(12976-12978)atG>atA	p.M4326I	ANK3_ENST00000355288.2_Missense_Mutation_p.M950I|ANK3_ENST00000503366.1_Missense_Mutation_p.M1817I|ANK3_ENST00000373827.2_Missense_Mutation_p.M1810I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4326					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCATCTTTTTCATACTGACAG	0.463000													78	51					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3451098	3451098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:3451098G>A	ENST00000382774.3	+	14	2035	c.1920G>A	c.(1918-1920)tgG>tgA	p.W640*	HGFAC_ENST00000511533.1_Nonsense_Mutation_p.W647*	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	640	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ATGTGGACTGGATCAACGACC	0.642000													22	48					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142611874	142611874	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:142611874C>T	ENST00000265310.1	-	12	1803	c.1455G>A	c.(1453-1455)atG>atA	p.M485I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	485					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCAAAAATCATCTGCAGGA	0.483000													16	18					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52377937	52377937	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:52377937C>T	ENST00000257963.4	+	5	1043	c.966C>T	c.(964-966)atC>atT	p.I322I	ACVR1B_ENST00000541224.1_Silent_p.I363I|ACVR1B_ENST00000426655.2_Silent_p.I322I|ACVR1B_ENST00000542485.1_Silent_p.I270I|ACVR1B_ENST00000415850.2_Silent_p.I322I|ACVR1B_ENST00000563121.1_3'UTR	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	322	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ACATGGAGATCGTGGGCACCC	0.522000													13	23					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124390568	124390568	+	Silent	SNP	A	A	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:124390568A>G	ENST00000360013.3	+	48	6889	c.6762A>G	c.(6760-6762)caA>caG	p.Q2254Q	KALRN_ENST00000459915.1_Silent_p.Q346Q|KALRN_ENST00000428018.2_Silent_p.Q525Q|KALRN_ENST00000393496.1_Silent_p.Q595Q|KALRN_ENST00000291478.4_Silent_p.Q557Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2253					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGAGGTCTCAACCTGCCAGGC	0.567000													35	76					0	0	1	0	0
INTS6-AS1	100507398	broad.mit.edu	37	13	52034998	52034998	+	RNA	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr13:52034998C>T	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000593429.1_RNA																							TGCTGTACATCATATTACACC	0.438000													5	10					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234405412	234405412	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:234405412G>A	ENST00000251722.6	-	24	2896	c.2779C>T	c.(2779-2781)Cct>Tct	p.P927S	USP40_ENST00000427112.2_Missense_Mutation_p.P927S|USP40_ENST00000409945.1_Missense_Mutation_p.P103S|USP40_ENST00000450966.1_Missense_Mutation_p.P939S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	927					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		ACCAGAGGAGGAAGTTGTCCT	0.348000													13	12					0	0	1	0	0
FBRS	64319	broad.mit.edu	37	16	30680646	30680646	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:30680646C>T	ENST00000356166.6	+	18	3711	c.2623C>T	c.(2623-2625)Cgc>Tgc	p.R875C	FBRS_ENST00000395073.2_Missense_Mutation_p.R267C|FBRS_ENST00000568722.1_Missense_Mutation_p.R267C|FBRS_ENST00000287468.5_Missense_Mutation_p.R355C			Q9HAH7	FBRS_HUMAN	fibrosin	355										ovary(1)	1			Colorectal(24;0.103)			CCCACCAGATCGCTGTGCTGG	0.706000													10	17					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183273410	183273410	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:183273410G>A	ENST00000341319.3	-	1	67	c.32C>T	c.(31-33)aCc>aTc	p.T11I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	11				T -> R (in Ref. 5; AAL35594).						breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATCACCCATGGTCCAGGCGCC	0.572000													52	65					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126086345	126086345	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:126086345C>T	ENST00000339582.2	-	10	3320	c.2512G>A	c.(2512-2514)Gtt>Att	p.V838I	GRM8_ENST00000358373.3_Missense_Mutation_p.V838I|GRM8_ENST00000444921.2_Missense_Mutation_p.V838I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	838					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)	ATAATATAAACCTTGGGCATA	0.408000										HNSCC(24;0.065)			23	61					0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48573659	48573659	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:48573659G>A	ENST00000340553.3	+	3	567	c.306G>A	c.(304-306)caG>caA	p.Q102Q		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	102					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CTTGCTACCAGAACCCAGAAA	0.433000													27	43					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122625513	122625513	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:122625513A>G	ENST00000319080.6	+	16	2653	c.2521A>G	c.(2521-2523)Atc>Gtc	p.I841V	MLXIP_ENST00000538698.1_Missense_Mutation_p.I448V			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	841	Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CAGCATCATCATCAAGCCGCT	0.597000													33	62					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100387179	100387179	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:100387179G>A	ENST00000262233.6	+	17	2013	c.1874G>A	c.(1873-1875)gGa>gAa	p.G625E	EML1_ENST00000334192.4_Missense_Mutation_p.G644E|EML1_ENST00000327921.9_Missense_Mutation_p.G613E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	625						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)				CACACAGATGGAAACGAACAG	0.358000													18	46					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144832199	144832199	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:144832199C>T	ENST00000367545.3	+	34	4884	c.4884C>T	c.(4882-4884)gtC>gtT	p.V1628V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1628	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGCTCTGCGTCCTTAACGCTG	0.443000													58	29					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77649243	77649243	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:77649243C>T	ENST00000354212.4	-	22	4010	c.3757G>A	c.(3757-3759)Gaa>Aaa	p.E1253K	MAGI2_ENST00000522391.1_Silent_p.R1282R|MAGI2_ENST00000419488.1_Missense_Mutation_p.E1239K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1253						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)				ACGCCTACTTCCGGCAGACCT	0.672000													12	24					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97251253	97251253	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:97251253A>G	ENST00000389672.5	+	11	2290	c.2252A>G	c.(2251-2253)gAg>gGg	p.E751G	EPHA6_ENST00000442602.2_Missense_Mutation_p.E117G|EPHA6_ENST00000502694.1_Missense_Mutation_p.E143G|EPHA6_ENST00000514100.1_Missense_Mutation_p.E143G	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	656	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGGAAAAGAGAGATCCCAGTT	0.403000													13	33					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108589759	108589759	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:108589759G>A	ENST00000332082.4	+	3	968	c.150G>A	c.(148-150)gcG>gcA	p.A50A	WSCD2_ENST00000261400.3_Silent_p.A50A|WSCD2_ENST00000549903.1_Silent_p.A50A|WSCD2_ENST00000547525.1_Silent_p.A50A			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	50						integral to membrane		p.A50A(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGAACCAGGCGAACCCCGCTG	0.607000													54	118					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135522331	135522331	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr9:135522331G>A	ENST00000372159.3	-	12	1548	c.1397C>T	c.(1396-1398)cCa>cTa	p.P466L	DDX31_ENST00000310532.2_Missense_Mutation_p.P466L|DDX31_ENST00000372153.1_Missense_Mutation_p.P466L|DDX31_ENST00000438527.3_Missense_Mutation_p.P337L	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	466						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GCCAGCTGGTGGAGGACAGAC	0.532000													23	18					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33110330	33110330	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:33110330G>A	ENST00000307363.5	-	3	522	c.378C>T	c.(376-378)atC>atT	p.I126I	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Silent_p.I174I|GLB1_ENST00000399402.3_Silent_p.I96I	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	126					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				ACTCTGCACAGATGTAGGGCC	0.547000													23	49					0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144802961	144802961	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:144802961G>A	ENST00000338033.4	+	9	987	c.868G>A	c.(868-870)Gac>Aac	p.D290N		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	290	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTTCGCCCCGGACAAGCGGTT	0.682000													12	49					0	0	1	0	0
MESDC1	59274	broad.mit.edu	37	15	81295208	81295208	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr15:81295208C>T	ENST00000267984.2	+	1	1914	c.596C>T	c.(595-597)gCc>gTc	p.A199V		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	199										endometrium(1)|lung(2)	3						GACGCGTGCGCCCTGGCCAGT	0.687000													9	14					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17212838	17212838	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:17212838G>T	ENST00000595618.1	+	2	463	c.311G>T	c.(310-312)gGc>gTc	p.G104V	MYO9B_ENST00000397274.2_Missense_Mutation_p.G104V|MYO9B_ENST00000594824.1_Missense_Mutation_p.G104V	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	104	Myosin head-like.|Ras-associating.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAGGAGGATGGCTACTACTTC	0.652000													23	32					6.21321e-17	6.37904e-17	1	1	0
KIF1B	23095	broad.mit.edu	37	1	10434438	10434438	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:10434438C>T	ENST00000377086.1	+	46	5213	c.5011C>T	c.(5011-5013)Cca>Tca	p.P1671S	KIF1B_ENST00000263934.6_Missense_Mutation_p.P1625S|KIF1B_ENST00000377081.1_Missense_Mutation_p.P1671S			O60333	KIF1B_HUMAN	kinesin family member 1B	1671					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCAGATTGTCCCAGCTGTGGA	0.418000													53	102					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303869	151303869	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chrX:151303869G>A	ENST00000370323.4	-	4	540	c.224C>T	c.(223-225)tCt>tTt	p.S75F	MAGEA10_ENST00000244096.3_Missense_Mutation_p.S75F|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	75										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATCATCAGCAGAAACCTCCTC	0.537000													59	18					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208224727	208224727	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:208224727G>A	ENST00000367033.3	-	16	3792	c.3035C>T	c.(3034-3036)tCc>tTc	p.S1012F		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1012	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AAGGCCATTGGATGATGGGGG	0.567000													16	25					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67269389	67269389	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:67269389A>G	ENST00000356404.3	-	5	809	c.584T>C	c.(583-585)gTt>gCt	p.V195A	PITPNM1_ENST00000436757.2_Missense_Mutation_p.V195A|PITPNM1_ENST00000534749.1_Missense_Mutation_p.V195A	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	195					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCGGAACTCAACCTTGCACAG	0.602000													27	39					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235575	3235575	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chrX:3235575G>A	ENST00000217939.6	-	6	6301	c.6147C>T	c.(6145-6147)atC>atT	p.I2049I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2049	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCCTGGTGGATAACGGGGG	0.662000													11	5					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155209525	155209525	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:155209525C>G	ENST00000428024.2	-	3	577	c.75G>C	c.(73-75)caG>caC	p.Q25H	GBA_ENST00000427500.2_Intron|GBA_ENST00000368373.3_Missense_Mutation_p.Q112H|GBA_ENST00000327247.5_Missense_Mutation_p.Q112H|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000536770.1_Intron	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	112					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TCTGGAACTTCTGTTCTGGCT	0.512000									Gaucher disease type I				23	52					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33461376	33461376	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:33461376C>T	ENST00000265112.3	+	13	1838	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	TARS_ENST00000541634.1_Silent_p.I405I|TARS_ENST00000455217.2_Silent_p.I542I|TARS_ENST00000414361.2_Silent_p.I388I|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Silent_p.I509I	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	509					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTGGAGATATCGAAGTATGGG	0.373000													14	27					0	0	1	0	0
CIDECP	152302	broad.mit.edu	37	3	10059658	10059658	+	RNA	SNP	G	G	T	rs9862221	by1000genomes	TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:10059658G>T	ENST00000432401.1	-	0	505																											GGGGATGCCCGTCCTCTGTGG	0.597000													7	98					2.17888e-05	2.19792e-05	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212285294	212285294	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:212285294A>T	ENST00000342788.4	-	25	3317	c.3007T>A	c.(3007-3009)Ttc>Atc	p.F1003I	ERBB4_ENST00000436443.1_Missense_Mutation_p.F1003I|ERBB4_ENST00000402597.1_Missense_Mutation_p.F993I	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1003					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)		TTCTGAAAGAACTTGCTGTCA	0.408000										TSP Lung(8;0.080)			7	28					0	0	1	0	0
ESAM	90952	broad.mit.edu	37	11	124623839	124623839	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:124623839G>A	ENST00000278927.5	-	7	1005	c.876C>T	c.(874-876)ccC>ccT	p.P292P	ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	292					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GCAGGGTCCGGGGAGCAATGG	0.567000													10	15					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56106231	56106231	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr10:56106231C>T	ENST00000373965.2	-	6	882	c.488G>A	c.(487-489)gGt>gAt	p.G163D	PCDH15_ENST00000414778.1_Missense_Mutation_p.G168D|PCDH15_ENST00000395433.1_Missense_Mutation_p.G141D|PCDH15_ENST00000395440.1_Missense_Mutation_p.G163D|PCDH15_ENST00000437009.1_Missense_Mutation_p.G163D|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G163D|PCDH15_ENST00000395446.1_Missense_Mutation_p.G163D|PCDH15_ENST00000361849.3_Missense_Mutation_p.G163D|PCDH15_ENST00000395432.2_Missense_Mutation_p.G163D|PCDH15_ENST00000395442.1_Missense_Mutation_p.G163D|PCDH15_ENST00000395445.1_Missense_Mutation_p.G163D|PCDH15_ENST00000373957.3_Missense_Mutation_p.G141D|PCDH15_ENST00000395438.1_Missense_Mutation_p.G163D|PCDH15_ENST00000395430.1_Missense_Mutation_p.G163D|PCDH15_ENST00000373955.1_Missense_Mutation_p.G163D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	163	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TATTGTGGTACCAACTGGAGT	0.333000										HNSCC(58;0.16)			29	13					0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr15:66729162C>T	ENST00000307102.5	+	3	901	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	124	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(8)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000													13	67					0	0	1	0	0
BTC	685	broad.mit.edu	37	4	75673342	75673342	+	Missense_Mutation	SNP	C	C	T	rs140634211	byFrequency	TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:75673342C>T	ENST00000395743.3	-	5	806	c.446G>A	c.(445-447)cGt>cAt	p.R149H		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	149	Arg/Lys-rich (basic).				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			CTTTCTTTTACGACGTTTCCG	0.353000													6	19					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110710562	110710562	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:110710562C>T	ENST00000282356.4	+	3	653	c.255C>T	c.(253-255)atC>atT	p.I85I	CAMK4_ENST00000512453.1_Silent_p.I85I	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	85	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACAAAAAAATCGTAAGAACTG	0.378000													12	14					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7912824	7912824	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:7912824G>A	ENST00000254854.4	+	8	1819	c.1668_splice	c.e8-1	p.G557_splice		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	557	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.G557R(1)		skin(1)	1		Prostate(122;0.157)				TTTGCTGCAGGGAGACAGGGT	0.557000													36	89					0	0	1	0	0
SPDL1	54908	broad.mit.edu	37	5	169028625	169028625	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:169028625C>T	ENST00000265295.4	+	11	1945	c.1666C>T	c.(1666-1668)Ccc>Tcc	p.P556S		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		CCCTAACTCTCCCAGGTCAGT	0.488000													7	12					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141607703	141607703	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:141607703T>G	ENST00000389484.3	-	29	5878	c.4907A>C	c.(4906-4908)aAc>aCc	p.N1636T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1636					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCAGTTCCGTTAATAAAAGC	0.323000										TSP Lung(27;0.18)			6	26					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112767556	112767556	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:112767556C>T	ENST00000295408.4	+	15	2249	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	MERTK_ENST00000421804.2_Silent_p.I664I|MERTK_ENST00000409780.1_Silent_p.I488I			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	664	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CTCAAGGCATCCCAAAGCCCA	0.428000													26	44					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95694307	95694307	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:95694307C>T	ENST00000436874.1	+	12	2303	c.2198C>T	c.(2197-2199)cCa>cTa	p.P733L	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.P685L	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	733						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CAGCTGTCACCAGATTTTACC	0.537000													19	32					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76501515	76501515	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:76501515G>A	ENST00000389840.5	-	31	4928	c.4804C>T	c.(4804-4806)Ctg>Ttg	p.L1602L	DNAH17_ENST00000585328.1_Silent_p.L1603L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTTTGGACAGGTGGCGGCTC	0.552000													23	30					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131887492	131887492	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:131887492G>A	ENST00000359827.3	-	12	3461	c.2499C>T	c.(2497-2499)acC>acT	p.T833T	PLXNA4_ENST00000321063.4_Silent_p.T833T			Q9HCM2	PLXA4_HUMAN	plexin A4	833	PSI 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTGGCGCAGGGTGCACTGGC	0.642000													17	44					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39537692	39537692	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:39537692G>A	ENST00000265707.5	+	16	1813	c.1768G>A	c.(1768-1770)Gat>Aat	p.D590N	ADAM18_ENST00000379866.1_Missense_Mutation_p.D566N|ADAM18_ENST00000541111.1_Missense_Mutation_p.D4N	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	590	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATGAGATCAGATGGAACAGA	0.358000													11	21					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142562484	142562484	+	Missense_Mutation	SNP	G	G	A	rs55728646	by1000genomes	TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:142562484G>A	ENST00000392957.2	+	7	1713	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	EPHB6_ENST00000411471.2_Missense_Mutation_p.R32Q|EPHB6_ENST00000442129.1_Missense_Mutation_p.R309Q	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	309	Cys-rich.		R -> Q.			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)					CAACCAGCACGAGGAGACAAG	0.657000													37	113					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738751	138738751	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:138738751C>T	ENST00000329447.5	-	1	1017	c.753G>A	c.(751-753)ccG>ccA	p.P251P	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	251	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGGCGTTCCGGGAGCGGCG	0.667000													21	32					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7169913	7169913	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:7169913G>A	ENST00000406697.1	+	6	768	c.140G>A	c.(139-141)gGg>gAg	p.G47E	C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Missense_Mutation_p.G47E|C1S_ENST00000328916.3_Missense_Mutation_p.G47E			P09871	C1S_HUMAN	complement component 1, s subcomponent	47	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GTTCCTGAAGGGTATGGGATT	0.458000													27	52					0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181486	3181486	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:3181486G>A	ENST00000408891.2	-	1	782	c.744C>T	c.(742-744)tcC>tcT	p.S248S		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	248					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.S248S(1)		ovary(1)	1						AGCCACACGTGGAGAAGGCCT	0.522000													30	41					0	0	1	0	0
CIDECP	152302	broad.mit.edu	37	3	10059664	10059664	+	RNA	SNP	T	T	C	rs73017232	by1000genomes	TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:10059664T>C	ENST00000432401.1	-	0	505																											GCCCGTCCTCTGTGGCATCGA	0.607000													6	93					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676858	7676858	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:7676858G>A	ENST00000446248.2	+	13	1661	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	CAMSAP3_ENST00000160298.4_Silent_p.K493K	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	493	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GGCCCTCCAAGCCATCCCTGG	0.667000													22	43					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122931334	122931334	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:122931334C>T	ENST00000534624.1	-	3	654	c.378G>A	c.(376-378)aaG>aaA	p.K126K	HSPA8_ENST00000526110.1_Silent_p.K126K|HSPA8_ENST00000532636.1_Silent_p.K126K|HSPA8_ENST00000453788.2_Silent_p.K126K|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000227378.3_Silent_p.K126K	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	126					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTTCCTTCATCTTTGTCAGAA	0.498000													38	72					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917222	48917222	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:48917222C>T	ENST00000311378.4	+	2	1101	c.573C>T	c.(571-573)acC>acT	p.T191T	WFIKKN2_ENST00000426127.1_Silent_p.T98T	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	191						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CACCTGAGACCACCATGCACC	0.637000													26	46					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9570070	9570070	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:9570070C>T	ENST00000460593.1	+	3	1160	c.22C>T	c.(22-24)Cct>Tct	p.P8S	CPSF3_ENST00000238112.3_Missense_Mutation_p.P45S			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	45					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TGGGATCCACCCTGGCCTAGA	0.368000													29	47					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87053346	87053346	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:87053346G>A	ENST00000265723.4	-	17	2198	c.2087C>T	c.(2086-2088)tCc>tTc	p.S696F	ABCB4_ENST00000545634.1_Missense_Mutation_p.S696F|ABCB4_ENST00000358400.3_Missense_Mutation_p.S696F|ABCB4_ENST00000453593.1_Missense_Mutation_p.S696F|ABCB4_ENST00000359206.3_Missense_Mutation_p.S696F	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	696					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTTCAGAAAGGACACTGGTGG	0.463000													47	88					0	0	1	0	0
RIOK1	83732	broad.mit.edu	37	6	7396957	7396957	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:7396957C>T	ENST00000379834.2	+	4	896	c.389C>T	c.(388-390)tCc>tTc	p.S130F		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	130							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GTTACTGATTCCGTCATAAAT	0.308000													12	32					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114372220	114372220	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:114372220C>T	ENST00000359785.5	-	18	2379	c.2244G>A	c.(2242-2244)agG>agA	p.R748R	PTPN22_ENST00000528414.1_Silent_p.R693R|PTPN22_ENST00000525799.1_Silent_p.R621R|PTPN22_ENST00000538253.1_Silent_p.R504R|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Silent_p.R748R	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	748					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTACCTTACTCCTTGTGAAAC	0.378000													13	11					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61508748	61508748	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:61508748C>T	ENST00000257215.5	+	19	2214	c.2098C>T	c.(2098-2100)Ccc>Tcc	p.P700S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	700					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCAGCCACTCCCCACGGGGCC	0.657000													19	48					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274630	29274630	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:29274630C>T	ENST00000377160.2	+	1	228	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CGTCTCCATTCCCCCATGTAT	0.473000													85	128					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64537396	64537396	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:64537396C>T	ENST00000358025.3	+	52	10695	c.10465C>T	c.(10465-10467)Cag>Tag	p.Q3489*	SYNE2_ENST00000555002.1_Nonsense_Mutation_p.Q123*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q3489*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q3522*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3489					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)		AGATAATCTTCAGGAAGAACT	0.358000													11	12					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79084869	79084869	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:79084869G>T	ENST00000446378.2	+	10	11662	c.11631G>T	c.(11629-11631)agG>agT	p.R3877S	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3877	Fibronectin type-III 2.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTATGTGAGGGCCATCAATG	0.403000													39	70					5.44703e-19	5.61238e-19	1	1	0
PBK	55872	broad.mit.edu	37	8	27667836	27667836	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:27667836C>T	ENST00000301905.4	-	8	1418	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	PBK_ENST00000522944.1_Missense_Mutation_p.E330K|ESCO2_ENST00000397418.2_Intron	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	319	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		ACATCTGTTTCCAGAGCTTCA	0.373000													14	23					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42036493	42036493	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:42036493T>A	ENST00000220809.4	-	13	1708	c.1452A>T	c.(1450-1452)agA>agT	p.R484S	PLAT_ENST00000524009.1_Missense_Mutation_p.R395S|PLAT_ENST00000519510.1_Missense_Mutation_p.R421S|PLAT_ENST00000352041.3_Missense_Mutation_p.R438S|PLAT_ENST00000429710.2_Missense_Mutation_p.R358S|PLAT_ENST00000270189.6_3'UTR|PLAT_ENST00000429089.2_Missense_Mutation_p.R484S	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	484	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGGTGACTGTTCTGTTAAGTA	0.577000													55	80					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845138	248845138	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:248845138G>A	ENST00000342623.3	-	1	491	c.468C>T	c.(466-468)gtC>gtT	p.V156V		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	156					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						TGCCAGTGTGGACGGCTGCGT	0.552000													12	37					0	0	1	0	0
TRIM61	391712	broad.mit.edu	37	4	165890966	165890966	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:165890966C>T	ENST00000329314.5	-	3	801	c.189G>A	c.(187-189)agG>agA	p.R63R		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	63						intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		TTATAAATTTCCTTTCTGGAC	0.453000													13	73					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108211420	108211420	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:108211420C>T	ENST00000273353.3	-	10	914	c.858G>A	c.(856-858)gtG>gtA	p.V286V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	286	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTGGAAAATCACCCTGGACT	0.393000													7	12					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189849965	189849965	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:189849965G>A	ENST00000304636.3	+	3	495	c.325G>A	c.(325-327)Gga>Aga	p.G109R	COL3A1_ENST00000317840.5_Missense_Mutation_p.G109R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	109					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGCCCCAAGGGAGATCCAGT	0.333000													17	43					0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36766675	36766675	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr20:36766675C>T	ENST00000361475.2	-	10	1628	c.1455G>A	c.(1453-1455)atG>atA	p.M485I	TGM2_ENST00000536701.1_Missense_Mutation_p.M404I|TGM2_ENST00000536724.1_Missense_Mutation_p.M425I	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	485					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGTCACTGCCCATGTTCATGC	0.592000													14	26					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382680	22382680	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr15:22382680G>A	ENST00000328795.4	+	1	299	c.208G>A	c.(208-210)Gat>Aat	p.D70N	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		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)		GGCCTTCCTGGATGCATCCTA	0.473000													13	38					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110986246	110986246	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:110986246G>A	ENST00000524391.1	-	2	1404	c.372C>T	c.(370-372)gtC>gtT	p.V124V	KCNV1_ENST00000297404.1_Silent_p.V124V|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	124						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GCTGCTCCATGACATGCAGGC	0.617000													28	22					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112672931	112672931	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:112672931G>A	ENST00000550722.1	-	37	5822	c.5427C>T	c.(5425-5427)atC>atT	p.I1809I	HECTD4_ENST00000377560.5_Silent_p.I1783I|HECTD4_ENST00000430131.2_Silent_p.I1533I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CCCGCTTGTGGATAAATATCG	0.468000													3	10					0	0	1	0	0
CTSB	1508	broad.mit.edu	37	8	11704593	11704593	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:11704593G>A	ENST00000353047.6	-	8	1014	c.761C>T	c.(760-762)tCt>tTt	p.S254F	CTSB_ENST00000345125.3_Missense_Mutation_p.S254F|CTSB_ENST00000533455.1_Missense_Mutation_p.S254F|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000531089.1_Missense_Mutation_p.S254F|CTSB_ENST00000534510.1_Missense_Mutation_p.S254F|CTSB_ENST00000434271.1_Missense_Mutation_p.S254F|CTSB_ENST00000453527.2_Missense_Mutation_p.S254F|CTSB_ENST00000530640.2_Missense_Mutation_p.S254F	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	254					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CGAATACACAGAGAAAGCTCC	0.547000													20	35					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58108948	58108948	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:58108948C>T	ENST00000357272.4	+	21	3420	c.3255C>T	c.(3253-3255)atC>atT	p.I1085I	FLNB_ENST00000348383.5_Silent_p.I1085I|FLNB_ENST00000295956.4_Silent_p.I1085I|FLNB_ENST00000490882.1_Silent_p.I1085I|FLNB_ENST00000358537.3_Silent_p.I1085I|FLNB_ENST00000429972.2_Silent_p.I1085I|FLNB_ENST00000419752.2_Silent_p.I916I|FLNB_ENST00000493452.1_Silent_p.I916I			O75369	FLNB_HUMAN	filamin B, beta	1085					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGCCAAAATCGAGTGCTCCG	0.552000													48	96					0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3661351	3661351	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:3661351G>A	ENST00000397068.3	-	2	700	c.308C>T	c.(307-309)tCg>tTg	p.S103L	ART5_ENST00000397067.3_Missense_Mutation_p.S103L|ART5_ENST00000359918.4_Missense_Mutation_p.S103L	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	103						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGGTGTTCGATGAGTTGGT	0.577000													50	105					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113801724	113801724	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr13:113801724T>A	ENST00000375559.3	+	7	817	c.779T>A	c.(778-780)tTc>tAc	p.F260Y	F10_ENST00000409306.1_Missense_Mutation_p.F260Y|F10_ENST00000375551.3_Missense_Mutation_p.F260Y	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	260	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACGAGGGTTTCTGTGGTGGA	0.542000													26	35					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39341263	39341263	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:39341263C>T	ENST00000263408.4	-	4	556	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	154	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCCTGCTGTTCGTGCCAGCTC	0.458000													40	53					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230271	36230271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:36230271G>A	ENST00000303965.4	-	2	1327	c.838C>T	c.(838-840)Cga>Tga	p.R280*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	280					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGAAAAGATCGAGATGGTCTT	0.393000													25	46					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176517411	176517411	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:176517411C>T	ENST00000292408.4	+	3	357	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	FGFR4_ENST00000502906.1_Silent_p.L38L|FGFR4_ENST00000393648.2_Silent_p.L38L|FGFR4_ENST00000393637.1_Silent_p.L38L|FGFR4_ENST00000292410.3_Silent_p.L38L|FGFR4_ENST00000507708.1_3'UTR	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	38	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GGCTCCCAGCCTGGAGCAGCA	0.652000										TSP Lung(9;0.080)			22	40					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47243551	47243551	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:47243551C>T	ENST00000300404.2	+	9	1269	c.1210C>T	c.(1210-1212)Ctc>Ttc	p.L404F	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.L344F|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.L318F	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	404					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CGATGATTTTCTCTTCAACGA	0.488000													28	46					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19474601	19474601	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:19474601G>A	ENST00000396229.2	+	7	1897		c.e7-1		TMC5_ENST00000564959.1_Splice_Site|TMC5_ENST00000561503.1_Splice_Site|TMC5_ENST00000542583.2_Splice_Site|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000381414.4_Splice_Site|TMC5_ENST00000219821.5_Splice_Site	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5							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						GTTCCCTACAGGAAAATAGTT	0.398000													18	43					0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55211758	55211758	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr20:55211758C>T	ENST00000201031.2	+	6	1258	c.1015C>T	c.(1015-1017)Ctt>Ttt	p.L339F	TFAP2C_ENST00000544508.1_Missense_Mutation_p.L170F	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	339	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CAGACCTCATCTTGGAGGACG	0.433000													19	41					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539610	56539610	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:56539610C>T	ENST00000390649.3	+	7	2011	c.2011C>T	c.(2011-2013)Ctg>Ttg	p.L671L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	671						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)		CTGGGTCTCTCTGTTGGGTCA	0.577000													39	71					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102124506	102124506	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:102124506C>T	ENST00000369138.1	+	4	1040	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	GRIK2_ENST00000318991.6_Missense_Mutation_p.R184C|GRIK2_ENST00000421544.1_Missense_Mutation_p.R184C|GRIK2_ENST00000358361.3_Missense_Mutation_p.R184C|GRIK2_ENST00000369134.4_Missense_Mutation_p.R135C|GRIK2_ENST00000413795.1_Missense_Mutation_p.R184C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R184C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	184					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)	AGGTCTCATTCGTTTGCAAGA	0.313000													4	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440845	179440845	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:179440845C>T	ENST00000589042.1	-	326	70238	c.70014G>A	c.(70012-70014)cgG>cgA	p.R23338R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.R21697R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.R20770R|TTN_ENST00000359218.5_Silent_p.R14398R|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.R14465R|TTN_ENST00000460472.2_Silent_p.R14273R|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21697	Fibronectin type-III 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)			GAGCCATCTCCCGTTCTACGA	0.438000													49	49					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128712114	128712114	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:128712114G>A	ENST00000265068.5	-	2	201	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	KIAA1257_ENST00000511438.1_Missense_Mutation_p.P12S|KIAA1257_ENST00000510149.1_Intron	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	12										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						ATGCTTGCGGGGTCCTCTTCC	0.627000													13	20					0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131246	130131246	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:130131246G>A	ENST00000525842.1	-	2	890	c.523C>T	c.(523-525)Cct>Tct	p.P175S	ZBTB44_ENST00000397753.1_Missense_Mutation_p.P175S|ZBTB44_ENST00000530205.1_Missense_Mutation_p.P175S|ZBTB44_ENST00000357899.4_Missense_Mutation_p.P175S	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		CGGCAGACAGGAATGGTTCTT	0.453000													8	40					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27068436	27068436	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:27068436G>A	ENST00000268766.6	+	14	1931	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	633						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GGCAGAGAGCGAAGTGTACTC	0.622000													17	23					0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15483068	15483068	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:15483068G>A	ENST00000269701.2	-	6	1012	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	318					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						ACCCGGGCCAGTTTGGTGTCT	0.582000													30	42					0	0	1	0	0
GYPB	2994	broad.mit.edu	37	4	144920579	144920579	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:144920579G>A	ENST00000283126.7	-	3	215	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	GYPB_ENST00000502664.1_Missense_Mutation_p.R54C|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000513128.1_Missense_Mutation_p.R21C|GYPB_ENST00000429670.2_Missense_Mutation_p.R54C|GYPB_ENST00000510196.2_5'UTR					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					ACAGTGAAACGATGGACAAGT	0.313000													3	6					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4242610	4242610	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:4242610G>A	ENST00000399609.3	-	6	978	c.966C>T	c.(964-966)atC>atT	p.I322I	SRL_ENST00000537996.1_Silent_p.I280I	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	781	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GTCTGTTCTCGATCACCTGAT	0.552000													54	118					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890037	55890037	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:55890037C>T	ENST00000313472.3	+	1	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTATTTTTTCCTTACTCACC	0.428000													63	133					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48343042	48343042	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:48343042C>T	ENST00000221996.7	+	4	924	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S	CRX_ENST00000539067.1_Missense_Mutation_p.P240S|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	240					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCTCTCTGGCCCCTCCGTGGG	0.647000													102	136					0	0	1	0	0
AKR1C1	1645	broad.mit.edu	37	10	5009132	5009132	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr10:5009132C>T	ENST00000380872.4	+	3	458	c.266C>T	c.(265-267)tCc>tTc	p.S89F	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.S89F|AKR1C1_ENST00000380859.1_Missense_Mutation_p.S91F	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						TGGTGCAATTCCCATCGACCA	0.393000													13	12					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435045	10435045	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:10435045C>T	ENST00000245503.5	-	22	2986	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E868K|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	868					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E868K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGGCAAGTTCGTCTTTAATT	0.428000													23	53					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57157079	57157079	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:57157079C>T	ENST00000371244.4	+	3	315	c.249C>T	c.(247-249)atC>atT	p.I83I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	83	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ACCAGGTGATCAGCACTCCAA	0.313000													11	8					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656116	167656116	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:167656116C>T	ENST00000357154.3	-	12	1404	c.1267G>A	c.(1267-1269)Ggg>Agg	p.G423R	SPOCK3_ENST00000504953.1_Missense_Mutation_p.G420R|SPOCK3_ENST00000421836.2_Missense_Mutation_p.G372R|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511269.1_Missense_Mutation_p.G420R|SPOCK3_ENST00000512681.1_Missense_Mutation_p.G325R|SPOCK3_ENST00000535728.1_Missense_Mutation_p.G291R|SPOCK3_ENST00000506886.1_Missense_Mutation_p.G423R|SPOCK3_ENST00000541354.1_Missense_Mutation_p.G303R|SPOCK3_ENST00000511531.1_Missense_Mutation_p.G423R|SPOCK3_ENST00000541637.1_Missense_Mutation_p.G325R|SPOCK3_ENST00000502330.1_Missense_Mutation_p.G423R|SPOCK3_ENST00000534949.1_Missense_Mutation_p.G327R|SPOCK3_ENST00000510741.1_Missense_Mutation_p.G380R|SPOCK3_ENST00000357545.4_Missense_Mutation_p.G420R	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	423	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcatcatccccttcatcttca	0.323000													5	14					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90059162	90059162	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:90059162C>T	ENST00000405460.2	+	59	12257	c.12161C>T	c.(12160-12162)tCa>tTa	p.S4054L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4054					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACCCTGATTCATATGTGACA	0.413000													9	19					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444324	20444324	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:20444324C>T	ENST00000305051.5	+	1	722	c.647C>T	c.(646-648)aCt>aTt	p.T216I		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCATAGACACTTATGTTGTC	0.403000													48	99					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11565659	11565659	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:11565659G>A	ENST00000359227.3	-	7	1210	c.786C>T	c.(784-786)atC>atT	p.I262I	ELAVL3_ENST00000438662.2_Silent_p.I255I	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	262					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CATCGATGGCGATCGGCGAGA	0.687000													129	218					0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14591461	14591461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:14591461C>A	ENST00000393033.4	-	5	687	c.418G>T	c.(418-420)Gag>Tag	p.E140*	GIPC1_ENST00000393029.3_Nonsense_Mutation_p.E43*|GIPC1_ENST00000393028.1_Nonsense_Mutation_p.E43*|GIPC1_ENST00000591349.1_Nonsense_Mutation_p.E43*|GIPC1_ENST00000586027.1_Nonsense_Mutation_p.E140*|GIPC1_ENST00000345425.2_Nonsense_Mutation_p.E140*	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	140	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGTGCATCCTCCGACTTGAAC	0.647000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	64					6.27289e-28	6.48648e-28	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80672875	80672875	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:80672875G>A	ENST00000458043.2	+	25	2836	c.2830G>A	c.(2830-2832)Gac>Aac	p.D944N	OTOGL_ENST00000547103.1_Missense_Mutation_p.D944N	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AATATACGGGGACCGACATTA	0.353000													34	62					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102446168	102446168	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:102446168C>T	ENST00000360184.4	+	4	795	c.631C>T	c.(631-633)Cca>Tca	p.P211S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	211	Stem (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						GCCGATTCATCCAATGATCAC	0.403000													36	66					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122001062	122001062	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:122001062G>A	ENST00000498619.1	+	6	2179	c.1741G>A	c.(1741-1743)Ggg>Agg	p.G581R	CASR_ENST00000296154.5_Missense_Mutation_p.G571R|CASR_ENST00000490131.1_Missense_Mutation_p.G571R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	571					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTGTCCTGATGGGGAGTATAG	0.602000													38	58					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13379373	13379373	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:13379373G>A	ENST00000254508.5	-	26	3598	c.3516C>T	c.(3514-3516)atC>atT	p.I1172I	NUP210_ENST00000485755.1_Intron	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1172					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGGGGCGCGGATCCTCACGG	0.642000													14	20					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108315580	108315580	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:108315580C>T	ENST00000520734.1	-	4	509	c.224G>A	c.(223-225)gGa>gAa	p.G75E	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.G74E			Q15389	ANGP1_HUMAN	angiopoietin 1	275					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.G275E(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTCTCTTTTTCCTCCCTTTAG	0.313000													9	35					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2168072	2168072	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:2168072G>A	ENST00000262304.4	-	5	1129	c.921C>T	c.(919-921)ttC>ttT	p.F307F	PKD1_ENST00000423118.1_Silent_p.F307F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	307	PKD 1.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCCGTCTCCGAAGTCCCAGC	0.716000													14	16					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345093	20345093	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:20345093G>A	ENST00000298642.2	+	1	703	c.667G>A	c.(667-669)Gtt>Att	p.V223I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATTGTCCTGGTTACTGTGAA	0.378000													25	120					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121471556	121471556	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:121471556C>T	ENST00000305949.1	+	8	894	c.849C>T	c.(847-849)atC>atT	p.I283I		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	283					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CCAAAAAGATCATACCATCAA	0.274000													4	16					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54301522	54301522	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:54301522G>A	ENST00000324134.6	-	8	3070	c.2902C>T	c.(2902-2904)Ccc>Tcc	p.P968S	NLRP12_ENST00000391775.3_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.P968S|NLRP12_ENST00000391773.1_Missense_Mutation_p.P969S|NLRP12_ENST00000345770.5_Missense_Mutation_p.P969S|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	968					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)		CTGCAGGCGGGATGTTGCAGC	0.592000													33	49					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110984492	110984492	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:110984492G>A	ENST00000524391.1	-	3	2018	c.986C>T	c.(985-987)tCc>tTc	p.S329F	KCNV1_ENST00000297404.1_Missense_Mutation_p.S329F			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	329						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AATACCTGTGGAATGTCTGCC	0.493000													33	33					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45363782	45363782	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:45363782C>T	ENST00000559488.1	+	5	787	c.771C>T	c.(769-771)gtC>gtT	p.V257V	ITGB3_ENST00000435993.2_Silent_p.V210V|ITGB3_ENST00000571680.1_Silent_p.V257V|ITGB3_ENST00000560629.1_Silent_p.L246L	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	257	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.V210V(1)|p.V257V(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AGGCTACAGTCTGTGATGTGA	0.512000													29	35					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56435093	56435093	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:56435093G>A	ENST00000584437.1	-	8	3999	c.2044C>T	c.(2044-2046)Ccc>Tcc	p.P682S	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.P555S|RNF43_ENST00000407977.2_Missense_Mutation_p.P682S|RNF43_ENST00000581868.1_Missense_Mutation_p.P555S|RNF43_ENST00000577716.1_Missense_Mutation_p.P682S|RNF43_ENST00000500597.2_Missense_Mutation_p.P641S|RNF43_ENST00000583753.1_Missense_Mutation_p.P641S			Q68DV7	RNF43_HUMAN	ring finger protein 43	682	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGTAATGGGGAAAAATCTGG	0.627000													62	113					0	0	1	0	0
FBXL12	54850	broad.mit.edu	37	19	9921757	9921757	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:9921757G>A	ENST00000247977.4	-	3	1037	c.796C>T	c.(796-798)Cca>Tca	p.P266S	FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.P213S|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.P213S	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	266							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GGCATTTCTGGGGTGACGAGG	0.662000													19	17					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115523998	115523998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:115523998G>A	ENST00000369522.3	+	29	2664	c.2424G>A	c.(2422-2424)tgG>tgA	p.W808*	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Nonsense_Mutation_p.W808*	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	808					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		AAATTTATTGGAAATTGGATT	0.303000													16	39					0	0	1	0	0
MGAT2	4247	broad.mit.edu	37	14	50088518	50088518	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:50088518C>T	ENST00000305386.2	+	1	1030	c.532C>T	c.(532-534)Cct>Tct	p.P178S	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	178					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GGTGTTCTTTCCTTTCAGCAT	0.502000													40	70					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678886	130678886	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chrX:130678886T>C	ENST00000338616.3	+	1	937	c.839T>C	c.(838-840)tTg>tCg	p.L280S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TATGGAGCTTTGACACCCATG	0.413000													38	15					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160769865	160769865	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:160769865C>T	ENST00000263285.5	+	2	477	c.447C>T	c.(445-447)ttC>ttT	p.F149F	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368039.2_Silent_p.F149F|LY9_ENST00000341032.4_Silent_p.F149F|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Silent_p.F109F	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	149	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCACCCTGTTCGTCTATGGTG	0.373000													19	40					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142271	54142271	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:54142271G>A	ENST00000265572.3	-	4	1026	c.729C>T	c.(727-729)atC>atT	p.I243I	OPRK1_ENST00000520287.1_Silent_p.I243I|OPRK1_ENST00000524278.1_Silent_p.I154I|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	243					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGTAGCAGACGATGATGATGA	0.542000													26	68					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32024647	32024647	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:32024647G>A	ENST00000375244.3	-	23	8060	c.7859C>T	c.(7858-7860)aCc>aTc	p.T2620I	TNXB_ENST00000375247.2_Missense_Mutation_p.T2620I			P22105	TENX_HUMAN	tenascin XB	2680	Fibronectin type-III 18.				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						AGGGGTCATGGTAGGCACTGC	0.617000													46	108					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370203	35370203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:35370203C>T	ENST00000373347.1	-	3	1050	c.782G>A	c.(781-783)tGg>tAg	p.W261*	DLGAP3_ENST00000235180.4_Nonsense_Mutation_p.W261*			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	261					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				ATCGGAACTCCACCAGCCTGT	0.657000													54	97					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147522	54147522	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:54147522G>A	ENST00000265572.3	-	3	704	c.407C>T	c.(406-408)tCc>tTc	p.S136F	OPRK1_ENST00000520287.1_Missense_Mutation_p.S136F|OPRK1_ENST00000524278.1_Missense_Mutation_p.S47F|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	136					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GTAATCAATGGAAATTACTAT	0.473000													47	30					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56484762	56484762	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:56484762T>C	ENST00000370765.6	-	23	4177	c.4070A>G	c.(4069-4071)gAc>gGc	p.D1357G	DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5005					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)			TTTCTGCTTGTCATGTTCTTG	0.433000													94	77					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111772438	111772438	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:111772438C>T	ENST00000261726.6	+	19	3274	c.3120C>T	c.(3118-3120)atC>atT	p.I1040I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1040						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCAGGAGATCGTGGCCATGT	0.617000													29	34					0	0	1	0	0
LY6D	8581	broad.mit.edu	37	8	143866658	143866658	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:143866658G>A	ENST00000301263.4	-	3	441	c.366C>T	c.(364-366)gtC>gtT	p.V122V	LY6D_ENST00000518434.1_5'UTR	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	122					cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding			large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGCTAAGATGACGGCCAGGA	0.652000													17	23					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48628487	48628487	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:48628487C>T	ENST00000006658.6	+	12	1632	c.1512C>T	c.(1510-1512)ctC>ctT	p.L504L	SPATA20_ENST00000393244.3_Silent_p.L444L|SPATA20_ENST00000356488.4_Silent_p.L488L|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	488					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGGAGAAGCTCTTCCAGGCCC	0.627000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	18					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149515812	149515812	+	RNA	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:149515812C>T	ENST00000378016.2	+	0	11713							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGCATGGCGCAGCCGCAC	0.687000													6	35					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45644575	45644575	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:45644575G>C	ENST00000267430.5	+	14	2703	c.2618G>C	c.(2617-2619)gGt>gCt	p.G873A	FANCM_ENST00000542564.2_Missense_Mutation_p.G847A	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	873					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATAATCACGGTATTATAGAT	0.259000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	18					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57171779	57171779	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:57171779C>T	ENST00000371244.4	+	8	1374	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	436					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TGAATGCATACCATCTTCGTG	0.303000													5	15					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167149800	167149800	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:167149800C>T	ENST00000303354.6	-	9	1391	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T	SCN9A_ENST00000375387.4_Missense_Mutation_p.A351T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.A350T|SCN9A_ENST00000409435.1_Missense_Mutation_p.A350T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	350						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCTAAGAAGGCCCAGCTGAAA	0.443000													7	7					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142200425	142200425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:142200425G>A	ENST00000519811.1	+	20	3358	c.3288G>A	c.(3286-3288)tgG>tgA	p.W1096*	DENND3_ENST00000523308.1_Nonsense_Mutation_p.W66*|DENND3_ENST00000424248.1_Nonsense_Mutation_p.W964*|DENND3_ENST00000262585.2_Nonsense_Mutation_p.W1016*			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1016										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)			TGCTGGTGTGGAATGTGAGCA	0.602000													57	52					0	0	1	0	0
LPAR2	9170	broad.mit.edu	37	19	19738055	19738055	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:19738055G>A	ENST00000542587.1	-	5	941	c.39C>T	c.(37-39)atC>atT	p.I13I	LPAR2_ENST00000586703.1_Silent_p.I13I|LPAR2_ENST00000407877.3_Silent_p.I13I			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	13					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						AGAAGAAGCCGATGGTCTCGT	0.587000													25	40					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6244953	6244953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:6244953G>A	ENST00000265978.4	-	3	1022	c.664C>T	c.(664-666)Cga>Tga	p.R222*	FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.R222*|FAM160A2_ENST00000449352.2_Nonsense_Mutation_p.R222*	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	222					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGCCCTCTCGATGCACAAAA	0.607000													83	139					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895325	42895325	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:42895325G>A	ENST00000399770.2	+	1	42	c.42G>A	c.(40-42)cgG>cgA	p.R14R		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	14					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ACAGGCCACGGAAAGTCCGGT	0.512000													28	53					0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39140403	39140403	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:39140403G>A	ENST00000377755.4	-	1	157	c.123C>T	c.(121-123)tcC>tcT	p.S41S	KRT40_ENST00000398486.2_Silent_p.S41S			Q6A162	K1C40_HUMAN	keratin 40	41	Head.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TCTGACATCGGGATGTAGCAC	0.577000													25	42					0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4306197	4306197	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:4306197G>A	ENST00000221856.6	+	3	261	c.114G>A	c.(112-114)gcG>gcA	p.A38A	FSD1_ENST00000597590.1_Silent_p.A38A	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	38					cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CGACCCAGGCGAACTCGGCGA	0.562000													66	130					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171136	4171136	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:4171136C>T	ENST00000602147.1	+	7	912	c.832C>T	c.(832-834)Cac>Tac	p.H278Y	CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000078445.2_Silent_p.S313S|CREB3L3_ENST00000602257.1_Silent_p.S311S|CREB3L3_ENST00000595923.1_Silent_p.S312S			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	0	Leucine-zipper.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGCAGTCCACCAGCAAGT	0.617000													17	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179450028	179450028	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:179450028C>T	ENST00000589042.1	-	309	64667	c.64443G>A	c.(64441-64443)ggG>ggA	p.G21481G	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Silent_p.G19840G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.G18913G|TTN_ENST00000359218.5_Silent_p.G12541G|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.G12608G|TTN_ENST00000460472.2_Silent_p.G12416G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19840	Fibronectin type-III 55.						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)			GGAGTTTTTTCCCAGCTTTGA	0.408000													64	50					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899978	151899978	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chrX:151899978G>A	ENST00000393900.3	-	3	1176	c.823C>T	c.(823-825)Cca>Tca	p.P275S	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.P275S|MAGEA12_ENST00000393869.3_Missense_Mutation_p.P275S	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	275	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGCCCTTGGACCCCACAGG	0.552000													100	37					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155784129	155784129	+	Silent	SNP	A	A	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:155784129A>G	ENST00000437809.1	-	9	1395	c.1273T>C	c.(1273-1275)Tta>Cta	p.L425L	GON4L_ENST00000271883.5_Silent_p.L425L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.L425L|GON4L_ENST00000361040.5_Silent_p.L425L			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	425					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACCTCTGATAATATGCCACTC	0.378000													23	58					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144392362	144392362	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:144392362G>A	ENST00000523676.1	-	14	1690	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L	TOP1MT_ENST00000519148.1_Silent_p.L429L|TOP1MT_ENST00000329245.4_Silent_p.L527L|TOP1MT_ENST00000521193.1_Silent_p.L429L			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	527					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AGCTTCTCCAGGAGCCGCCTC	0.642000													10	11					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77657038	77657038	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:77657038C>A	ENST00000461745.1	+	21	4126	c.3226C>A	c.(3226-3228)Ccc>Acc	p.P1076T	ROBO2_ENST00000332191.8_Missense_Mutation_p.P1076T|ROBO2_ENST00000487694.3_Missense_Mutation_p.P1092T|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1076					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	p.V1079fs*22(1)|p.V1095fs*22(1)		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)		CCCTCTACCTCCCCCCCCAGT	0.433000													14	33					9.31168e-06	9.42603e-06	1	1	0
TRIML2	205860	broad.mit.edu	37	4	189012760	189012760	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:189012760G>C	ENST00000512729.1	-	7	1305	c.931C>G	c.(931-933)Ctc>Gtc	p.L311V	TRIML2_ENST00000326754.3_Missense_Mutation_p.L336V	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	311	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCCAGGAAGAGCCTTTTCAGA	0.537000													58	136					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10402067	10402067	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:10402067C>T	ENST00000226207.5	-	30	4151	c.4057G>A	c.(4057-4059)Gag>Aag	p.E1353K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1353						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						TCCTGCTCCTCCTCATACTGT	0.552000													49	86					0	0	1	0	0
TRAV19	28664	broad.mit.edu	37	14	22476342	22476342	+	RNA	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:22476342C>T	ENST00000390447.3	+	0	389																											TTCCAGAAATCCACCAGTTCC	0.463000													9	10					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128404961	128404961	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:128404961G>A	ENST00000368227.3	-	9	1840	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S	PTPRK_ENST00000368215.3_Missense_Mutation_p.P492S|PTPRK_ENST00000368207.3_Missense_Mutation_p.P492S|PTPRK_ENST00000368210.3_Missense_Mutation_p.P492S|PTPRK_ENST00000368213.5_Missense_Mutation_p.P492S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.P492S|PTPRK_ENST00000532331.1_Missense_Mutation_p.P492S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	492	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACTGGTACGGGACCAGGCACT	0.318000													12	9					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167145061	167145061	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:167145061C>T	ENST00000303354.6	-	10	1543	c.1203G>A	c.(1201-1203)gtG>gtA	p.V401V	SCN9A_ENST00000375387.4_Silent_p.V401V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.V400V|SCN9A_ENST00000409435.1_Silent_p.V400V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	400						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCATGGCAACCACAGCCAGGA	0.413000													21	46					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	21					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303383	5303383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:5303383G>A	ENST00000274181.7	+	19	2930	c.2792G>A	c.(2791-2793)tGg>tAg	p.W931*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	931	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTGCCCAGCTGGTCCGTGGGG	0.657000													6	14					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083098	9083098	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:9083098G>A	ENST00000397910.4	-	1	8920	c.8717C>T	c.(8716-8718)tCt>tTt	p.S2906F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2907	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTTGGTAAAGAAGCGGACTT	0.493000													15	25					0	0	1	0	0
LIN28A	79727	broad.mit.edu	37	1	26751942	26751942	+	Missense_Mutation	SNP	G	G	A	rs141345172		TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:26751942G>A	ENST00000326279.6	+	3	491	c.377G>A	c.(376-378)gGa>gAa	p.G126E	LIN28A_ENST00000254231.4_Missense_Mutation_p.G126E	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	126					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						CGGCCAAAAGGAAAGAGCATG	0.512000													44	81					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172935770	172935770	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:172935770C>T	ENST00000315796.4	+	6	1063	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	226					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						AGCAGGGGCTCCCTTCTCTGT	0.448000													17	49					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27959127	27959127	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:27959127G>A	ENST00000269033.3	-	15	3155	c.3004C>T	c.(3004-3006)Cct>Tct	p.P1002S	SSH2_ENST00000540801.1_Missense_Mutation_p.P1029S|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1002					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGGGAAGAGGGACTGCTTGT	0.502000													27	42					0	0	1	0	0
RIPK2	8767	broad.mit.edu	37	8	90784906	90784906	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:90784906C>T	ENST00000220751.4	+	6	1017	c.703C>T	c.(703-705)Cct>Tct	p.P235S	RIPK2_ENST00000540020.1_Missense_Mutation_p.P98S	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	235	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|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	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGTCACCAATCCTTTGCAGAT	0.318000													23	23					0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173616054	173616054	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:173616054C>T	ENST00000333279.2	-	3	487	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	159										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GCCCTTTCTTCCCGGAAGTTC	0.473000													39	59					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12461104	12461104	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:12461104G>A	ENST00000242804.4	-	6	1877	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	ZNF442_ENST00000438182.1_Missense_Mutation_p.P363L	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						ACATTCATAGGGTTTCTCACC	0.408000													25	36					0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129901277	129901277	+	Splice_Site	SNP	C	C	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:129901277C>A	ENST00000368149.2	-	14	1927		c.e14-1		ARHGAP18_ENST00000463225.1_Splice_Site	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGCAACCCCACTATGAGGGAC	0.363000													3	17					2.56e-06	2.59599e-06	1	1	0
SYMPK	8189	broad.mit.edu	37	19	46351038	46351038	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:46351038G>A	ENST00000245934.7	-	7	892	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	216					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGTCACGAGGGATGCGGTCCA	0.597000													20	36					0	0	1	0	0
UPK1A	11045	broad.mit.edu	37	19	36166856	36166856	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:36166856G>A	ENST00000222275.2	+	5	583	c.583G>A	c.(583-585)Gga>Aga	p.G195R	UPK1A_ENST00000379013.2_Missense_Mutation_p.G195R	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	195					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	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)			TCGCCGGACGGGAAACTTCAT	0.637000													23	54					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73830401	73830401	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:73830401G>A	ENST00000264448.6	+	21	12440	c.12329G>A	c.(12328-12330)aGc>aAc	p.S4110N	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.S4068N	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4110					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						AAGCCTATCAGCAAGAAGGAA	0.483000													26	35					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478238	42478238	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:42478238T>A	ENST00000434000.1	-	9	1255	c.973A>T	c.(973-975)Aaa>Taa	p.K325*	GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.K403*			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	403						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGTTTTACTTTGCAGTGTGCT	0.418000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	64					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538343	63538343	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:63538343C>T	ENST00000550760.3	+	4	1095	c.916C>T	c.(916-918)Cat>Tat	p.H306Y		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TAAGAGAATTCATACTGGAGA	0.368000													3	8					0	0	1	0	0
NFKBID	84807	broad.mit.edu	37	19	36380805	36380805	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:36380805G>A	ENST00000396901.1	-	11	1448	c.875C>T	c.(874-876)cCg>cTg	p.P292L	NFKBID_ENST00000352614.2_Missense_Mutation_p.P444L|NFKBID_ENST00000340950.2_Missense_Mutation_p.P129L|NFKBID_ENST00000606253.1_Missense_Mutation_p.P292L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	292					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CTCAGGGCCCGGCCCGGGCCG	0.687000													42	78					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32024646	32024646	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:32024646G>A	ENST00000375244.3	-	23	8061	c.7860C>T	c.(7858-7860)acC>acT	p.T2620T	TNXB_ENST00000375247.2_Silent_p.T2620T			P22105	TENX_HUMAN	tenascin XB	2680	Fibronectin type-III 18.				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						CAGGGGTCATGGTAGGCACTG	0.622000													48	108					0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20069161	20069161	+	Splice_Site	SNP	A	A	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:20069161A>C	ENST00000276390.2	+	7	643		c.e7-1			NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TTTGTTCATCAGATTGCAGCT	0.328000													14	35					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38350718	38350718	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:38350718A>G	ENST00000322350.5	+	4	753	c.407A>G	c.(406-408)cAa>cGa	p.Q136R	EGFLAM_ENST00000354891.3_Missense_Mutation_p.Q136R	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	136						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)					ACTTTGTCCCAAGGTAAAGTA	0.478000													28	38					0	0	1	0	0
TOMM34	10953	broad.mit.edu	37	20	43580559	43580559	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr20:43580559C>T	ENST00000372813.3	-	4	617	c.465G>A	c.(463-465)caG>caA	p.Q155Q	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	155					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TCCACCTCTTCTGAGCTGAAA	0.517000													34	64					0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1615722	1615722	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:1615722C>T	ENST00000262965.5	-	17	1893	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	TCF3_ENST00000588136.1_Missense_Mutation_p.E517K|TCF3_ENST00000453954.2_Missense_Mutation_p.E433K|TCF3_ENST00000395423.3_Missense_Mutation_p.E466K|TCF3_ENST00000344749.5_Missense_Mutation_p.E517K	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	517					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		TCCTTCTTCTCCTCCTCCGAG	0.687000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								41	85					0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44235875	44235875	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr22:44235875G>A	ENST00000330884.4	-	3	451	c.331C>T	c.(331-333)Cac>Tac	p.H111Y	SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Missense_Mutation_p.H111Y	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	111					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TAGGGCAGGTGGCTCTTGATG	0.617000													4	11					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23830128	23830128	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:23830128C>T	ENST00000264867.2	-	5	771	c.652G>A	c.(652-654)Gat>Aat	p.D218N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	218					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGAGGGTCATCGTTTGTGGTC	0.468000													33	82					0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149708	45149708	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr13:45149708G>A	ENST00000458659.2	-	1	993	c.503C>T	c.(502-504)cCc>cTc	p.P168L	TSC22D1_ENST00000501704.2_Missense_Mutation_p.P168L	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	168					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GCTGCGTTCGGGCTCCCCTAA	0.527000													29	43					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23768743	23768743	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:23768743G>A	ENST00000354639.3	+	6	753	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E120K|STK31_ENST00000428484.1_Missense_Mutation_p.E97K|STK31_ENST00000355870.3_Missense_Mutation_p.E120K	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	120	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGAAATACTGAAATTCTAAA	0.358000													11	21					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599532	136599532	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:136599532C>T	ENST00000531224.1	-	4	739	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	BCLAF1_ENST00000353331.4_Missense_Mutation_p.E161K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E161K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E161K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E163K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	163					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTTTGTTTTTCCTGAGACCCT	0.433000													24	126					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55142481	55142481	+	Missense_Mutation	SNP	G	G	A	rs114930141	by1000genomes	TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:55142481G>A	ENST00000427581.2	+	1	398	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000324602.7_5'UTR|LILRB1_ENST00000396327.3_5'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396332.4_5'UTR|LILRB1_ENST00000434867.2_5'UTR|LILRB1_ENST00000396331.1_5'UTR			Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	0					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)		TGCCAGCACCGAGGGCTCATC	0.582000										HNSCC(37;0.09)			27	35					0	0	1	0	0
TMEM45A	55076	broad.mit.edu	37	3	100295833	100295833	+	Silent	SNP	C	C	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:100295833C>A	ENST00000403410.1	+	8	1467	c.847C>A	c.(847-849)Cga>Aga	p.R283R	TMEM45A_ENST00000323523.4_Silent_p.R267R			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	267						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						AAATGCTGAACGAGAACAAGA	0.368000													14	23					8.60227e-14	8.80055e-14	1	1	0
PROKR2	128674	broad.mit.edu	37	20	5294791	5294791	+	Silent	SNP	G	G	A	rs139296723		TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr20:5294791G>A	ENST00000546004.1	-	2	471	c.225C>T	c.(223-225)atC>atT	p.I75I	PROKR2_ENST00000217270.3_Silent_p.I75I			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	75						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGAGGGCAGCGATAAAGACAA	0.552000										HNSCC(71;0.22)			40	82					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658978	55658978	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:55658978G>A	ENST00000449290.2	+	7	1321	c.1229G>A	c.(1228-1230)gGa>gAa	p.G410E	TRIM51_ENST00000244891.3_Missense_Mutation_p.G267E	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	410	B30.2/SPRY.					intracellular	zinc ion binding										AGCACAGTAGGATTATTCCTG	0.463000													38	51					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94158280	94158280	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:94158280C>T	ENST00000553484.1	+	48	7795	c.7641C>T	c.(7639-7641)gcC>gcT	p.A2547A	UNC79_ENST00000555664.1_Silent_p.A2486A|UNC79_ENST00000393151.2_Silent_p.A2525A|UNC79_ENST00000256339.4_Silent_p.A2348A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2525						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						AGCTAATGGCCCATAACAAAG	0.453000													28	54					0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85538796	85538796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:85538796G>A	ENST00000295887.5	+	4	845	c.422G>A	c.(421-423)tGg>tAg	p.W141*		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	141					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GATCTACCATGGTTTAGAACA	0.343000													4	11					0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6640113	6640113	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:6640113C>T	ENST00000299427.6	-	3	183	c.123G>A	c.(121-123)gcG>gcA	p.A41A	RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000534644.1_Intron	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	41					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CCTCAGGGTCCGCACGGCCCA	0.592000													29	58					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55481495	55481495	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:55481495G>A	ENST00000543010.1	+	2	255	c.112G>A	c.(112-114)Gag>Aag	p.E38K	NLRP2_ENST00000448584.2_Missense_Mutation_p.E38K|NLRP2_ENST00000391721.4_Missense_Mutation_p.E38K|NLRP2_ENST00000339757.7_Missense_Mutation_p.E38K|NLRP2_ENST00000538819.1_Missense_Mutation_p.E38K|NLRP2_ENST00000263437.6_Missense_Mutation_p.E38K|NLRP2_ENST00000537859.1_Missense_Mutation_p.E38K|NLRP2_ENST00000427260.2_Missense_Mutation_p.E38K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	38	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCTGGCACACGAGCTCCAGAA	0.557000													29	48					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115489880	115489880	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:115489880C>T	ENST00000369522.3	+	27	2501	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	SYCP1_ENST00000369518.1_Missense_Mutation_p.S754F	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	754					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		ATTGAACTATCCAATCTCAAA	0.308000													8	16					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816665	77816665	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:77816665C>T	ENST00000334306.2	-	1	2337	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	780																	TGGAATTTCTCATACTGGTTG	0.488000													39	73					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201499582	201499582	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:201499582G>A	ENST00000374700.2	+	21	2531	c.2290G>A	c.(2290-2292)Gga>Aga	p.G764R	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	764					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)	CGTTCCCAAGGGAGAGGATCA	0.403000													26	49					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844332	123844332	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr10:123844332G>A	ENST00000369005.1	+	4	2657	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	TACC2_ENST00000515273.1_Missense_Mutation_p.E773K|TACC2_ENST00000515603.1_Missense_Mutation_p.E773K|TACC2_ENST00000453444.2_Missense_Mutation_p.E773K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.E773K|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	773						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCGAGACAGGAATTTCATGC	0.612000													45	45					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30999035	30999035	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:30999035C>T	ENST00000298139.5	+	25	3306	c.3057C>T	c.(3055-3057)tcC>tcT	p.S1019S		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1019					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)		AGGCTTTTTCCCGTCAGCTGA	0.438000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				26	44					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390223	150390223	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:150390223G>A	ENST00000223293.5	+	3	943	c.849G>A	c.(847-849)ttG>ttA	p.L283L		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	283						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTCAGATTGATAATTCTGT	0.353000													8	16					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9581118	9581118	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:9581118T>C	ENST00000301480.4	-	7	611	c.398A>G	c.(397-399)aAc>aGc	p.N133S		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	133	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACTGTACAGGTTTCTCTGAGC	0.468000													38	60					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87045037	87045037	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:87045037G>A	ENST00000370563.3	+	13	2165	c.2122_splice	c.e13-1	p.G708_splice	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	708						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTTAATGCAGGGGAAATTGAA	0.398000													20	27					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90129000	90129000	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr15:90129000C>T	ENST00000268138.7	+	4	1343	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.S412F					TOPBP1-interacting checkpoint and replication regulator																		TCCCCACTCTCTGCCAGTGCT	0.532000													18	34					0	0	1	0	0
NFKBID	84807	broad.mit.edu	37	19	36380806	36380806	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:36380806G>A	ENST00000396901.1	-	11	1447	c.874C>T	c.(874-876)Ccg>Tcg	p.P292S	NFKBID_ENST00000352614.2_Missense_Mutation_p.P444S|NFKBID_ENST00000340950.2_Missense_Mutation_p.P129S|NFKBID_ENST00000606253.1_Missense_Mutation_p.P292S	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	292					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						TCAGGGCCCGGCCCGGGCCGC	0.687000													42	79					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899127	205899127	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:205899127T>G	ENST00000367135.3	-	6	723	c.610A>C	c.(610-612)Atc>Ctc	p.I204L	SLC26A9_ENST00000340781.4_Missense_Mutation_p.I204L|SLC26A9_ENST00000367134.2_Missense_Mutation_p.I204L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	204						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AAGCCCCGGATGAAGGACTCG	0.577000													22	36					0	0	1	0	0
RIC8A	60626	broad.mit.edu	37	11	209918	209918	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:209918C>T	ENST00000526104.1	+	3	1988	c.644C>T	c.(643-645)tCc>tTc	p.S215F	RIC8A_ENST00000527696.1_Missense_Mutation_p.S209F|RIC8A_ENST00000325207.5_Missense_Mutation_p.S215F			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	215						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTCCTTCCTTCCCAAGAGACT	0.582000													23	47					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159900142	159900142	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:159900142C>T	ENST00000368094.1	-	15	2098	c.1901G>A	c.(1900-1902)aGg>aAg	p.R634K	IGSF9_ENST00000361509.3_Missense_Mutation_p.R618K|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	634	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGGGGTGTCCTCACTGCCAC	0.672000													62	104					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151874755	151874755	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:151874755G>A	ENST00000355193.2	-	38	8001	c.7783C>T	c.(7783-7785)Ccc>Tcc	p.P2595S	KMT2C_ENST00000262189.6_Missense_Mutation_p.P2595S					lysine (K)-specific methyltransferase 2C																		TCTGGCCGGGGAATGAAGTTT	0.557000													68	47					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66441150	66441150	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:66441150C>A	ENST00000404260.3	+	23	3354	c.3046C>A	c.(3046-3048)Cag>Aag	p.Q1016K	MAST4_ENST00000405643.1_Missense_Mutation_p.Q834K|MAST4_ENST00000403625.2_Missense_Mutation_p.Q1013K|MAST4_ENST00000261569.7_Missense_Mutation_p.Q819K|MAST4_ENST00000403666.1_Missense_Mutation_p.Q824K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1016						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAGTGTGCCCAGGAGGAGCC	0.617000													8	36					0.000442599	0.000443368	1	1	0
ABCC6	368	broad.mit.edu	37	16	16276740	16276740	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:16276740G>A	ENST00000205557.7	-	16	2020	c.1991C>T	c.(1990-1992)cCa>cTa	p.P664L	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	664	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGCCCCCACTGGACCGACAAC	0.632000													26	69					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222216	118222216	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chrX:118222216G>A	ENST00000402510.2	-	11	2976	c.2977C>T	c.(2977-2979)Cct>Tct	p.P993S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	993										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGAACTTTAGGATTCATCAAG	0.453000													36	10					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19318082	19318082	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:19318082G>A	ENST00000461366.1	+	10	1223		c.e10-1			NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112								GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTGCCTCACAGAGATTGTCTG	0.637000													10	27					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789838	6789838	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:6789838G>A	ENST00000338569.2	-	1	448	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATAGGCCATGAAGGCCAGTA	0.517000													31	47					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020107	56020107	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:56020107C>T	ENST00000303059.3	+	1	432	c.432C>T	c.(430-432)ctC>ctT	p.L144L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AATGTTTTCTCTTGGCTGCAA	0.403000													47	80					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50214030	50214030	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:50214030C>T	ENST00000392518.4	+	16	2154	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	CPT1C_ENST00000598293.1_Silent_p.F594F|CPT1C_ENST00000405931.2_Silent_p.F583F|CPT1C_ENST00000354199.5_Silent_p.F594F|CPT1C_ENST00000323446.5_Silent_p.F594F	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	594					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTCGCTTATTCCTGGAAGGCC	0.602000													13	57					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130605399	130605399	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr9:130605399G>A	ENST00000344849.3	-	2	473	c.193C>T	c.(193-195)Cat>Tat	p.H65Y	ENG_ENST00000373203.4_Missense_Mutation_p.H65Y			P17813	EGLN_HUMAN	endoglin	65					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						AAGAGGACATGGACTTCAAGG	0.632000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				67	48					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961235	1961235	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr20:1961235C>T	ENST00000217305.2	-	4	724	c.499G>A	c.(499-501)Gac>Aac	p.D167N	PDYN_ENST00000539905.1_Missense_Mutation_p.D167N|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.D167N	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	167					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						TCCTTGGGGTCCTCCTCAGCG	0.597000													47	79					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102820890	102820890	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:102820890G>A	ENST00000260302.3	-	6	894	c.866C>T	c.(865-867)tCc>tTc	p.S289F	MMP13_ENST00000340273.4_Missense_Mutation_p.S289F	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	289					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GGCATCAAGGGATAAGGAAGG	0.433000													41	87					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101333101	101333101	+	Translation_Start_Site	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:101333101G>A	ENST00000299222.9	+	0	380				ANO4_ENST00000538618.1_Missense_Mutation_p.D223N|ANO4_ENST00000392979.3_Missense_Mutation_p.D22N|ANO4_ENST00000392977.3_Missense_Mutation_p.D57N			Q32M45	ANO4_HUMAN	anoctamin 4							chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGTGGCCAAGGATGTCAATAT	0.383000										HNSCC(74;0.22)			19	38					0	0	1	0	0
HSPB3	8988	broad.mit.edu	37	5	53752062	53752062	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:53752062G>A	ENST00000302005.1	+	1	618	c.443G>A	c.(442-444)gGg>gAg	p.G148E		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	148					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				GATCCAGTTGGGACTAAGTGA	0.438000													42	72					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94049584	94049584	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:94049584C>T	ENST00000297268.6	+	35	2590	c.2119C>T	c.(2119-2121)Cct>Tct	p.P707S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	707			Missing (in OI2A).		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)	tcctgctggtcctCGGGGAAG	0.458000										HNSCC(75;0.22)			38	60					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111674	57111674	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:57111674G>A	ENST00000454682.1	-	3	3921	c.3640C>T	c.(3640-3642)Ccc>Tcc	p.P1214S	NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCCCCTTTGGGGGATGGGGTA	0.637000			T	BCL6	NHL								34	74					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193049097	193049097	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:193049097G>A	ENST00000342358.4	-	12	1393	c.1276C>T	c.(1276-1278)Cct>Tct	p.P426S		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	426					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCTTTTGGAGGAACCTGGGAG	0.537000													17	24					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238508	48238508	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:48238508C>T	ENST00000309562.2	+	1	165	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CGGTCAGTATCAGCAAGAGTC	0.507000													56	95					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67040632	67040632	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:67040632G>A	ENST00000315962.4	+	2	635	c.262G>A	c.(262-264)Gat>Aat	p.D88N	TRIM55_ENST00000276573.7_Missense_Mutation_p.D88N|TRIM55_ENST00000350034.4_Missense_Mutation_p.D88N|TRIM55_ENST00000353317.5_Missense_Mutation_p.D88N	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	88						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGTGGTTTTGGATAGACATGG	0.507000													84	82					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54099713	54099713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chrX:54099713G>A	ENST00000328235.4	-	14	2688	c.2632C>T	c.(2632-2634)Cag>Tag	p.Q878*	FAM120C_ENST00000375180.2_Missense_Mutation_p.S1015L			Q9NX05	F120C_HUMAN	family with sequence similarity 120C	0										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AACTCCATCTGAAGAGCCCTG	0.473000													23	4					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6386961	6386961	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:6386961G>A	ENST00000262483.8	-	6	550	c.463C>T	c.(463-465)Cac>Tac	p.H155Y	ACKR6_ENST00000421306.3_Missense_Mutation_p.H119Y	NM_031220.3	NP_112497.2																					CTGAAGGTGTGGATGTCGGCT	0.627000													18	54					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32933053	32933053	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:32933053C>T	ENST00000383763.4	+	4	2420	c.2357C>T	c.(2356-2358)tCg>tTg	p.S786L		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	786					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTCTGGGCTCGGAGGGCACA	0.607000													33	60					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105889407	105889407	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:105889407G>A	ENST00000393359.2	-	10	2303	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.S626F			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	626					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCCACTGGCGGAGGCCCTCTG	0.577000													36	59					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142565375	142565375	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:142565375C>T	ENST00000392957.2	+	12	2547	c.1760C>T	c.(1759-1761)tCc>tTc	p.S587F	EPHB6_ENST00000411471.2_Missense_Mutation_p.S310F|EPHB6_ENST00000442129.1_Missense_Mutation_p.S587F	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	587						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)					GAGCTGTCTTCCCAGCTTCCG	0.637000													10	13					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579692	55579692	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:55579692C>T	ENST00000333973.2	+	1	839	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTATCACTGTCTTCCATGGAA	0.517000													32	53					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77678003	77678003	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:77678003C>T	ENST00000296043.6	+	8	6064	c.5111C>T	c.(5110-5112)cCc>cTc	p.P1704L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1704	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGTTTGTTTCCCCGAGATGTG	0.468000													25	54					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1562680	1562680	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:1562680G>A	ENST00000572621.1	-	31	5374	c.5109C>T	c.(5107-5109)atC>atT	p.I1703I	PRPF8_ENST00000304992.6_Silent_p.I1703I			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1703	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGTCAATGGCGATGAGTACAC	0.537000													51	81					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78413445	78413445	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:78413445G>A	ENST00000278550.7	-	28	4675	c.4213C>T	c.(4213-4215)Cac>Tac	p.H1405Y		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CACTCCAGGTGAACCTGACAA	0.488000													39	74					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499306	75499306	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr15:75499306C>T	ENST00000360639.2	+	2	1237	c.917C>T	c.(916-918)cCt>cTt	p.P306L	C15orf39_ENST00000394987.4_Missense_Mutation_p.P306L|C15orf39_ENST00000567617.1_Missense_Mutation_p.P306L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	306										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCACTGCAGCCTCTGGGGGGC	0.697000													22	38					0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53468916	53468916	+	Silent	SNP	A	A	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:53468916A>G	ENST00000301463.4	-	4	420	c.334T>C	c.(334-336)Ttg>Ctg	p.L112L	SPRYD3_ENST00000547837.1_Silent_p.L149L	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	112	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GAGTCAGGCAACCAGCCAGGC	0.532000													40	85					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123377059	123377059	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:123377059G>T	ENST00000275162.4	+	5	2119	c.784G>T	c.(784-786)Gca>Tca	p.A262S	CLVS2_ENST00000368438.1_Missense_Mutation_p.A116S	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	262					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GGGGACATGGGCAAGAACACT	0.478000													5	70					0.000602214	0.000602214	1	1	0
ZNF318	24149	broad.mit.edu	37	6	43316306	43316306	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:43316306A>C	ENST00000361428.2	-	6	2905	c.2828T>G	c.(2827-2829)gTg>gGg	p.V943G	ZNF318_ENST00000318149.3_Missense_Mutation_p.V943G	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	943					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ACTCACCTCCACCAAGAGAGG	0.458000													58	69					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171077327	171077327	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:171077327G>A	ENST00000367755.4	+	5	703	c.592G>A	c.(592-594)Gat>Aat	p.D198N	FMO3_ENST00000538429.1_Missense_Mutation_p.D135N|FMO3_ENST00000542847.1_Missense_Mutation_p.D178N|FMO3_ENST00000392085.2_Missense_Mutation_p.D198N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	198			D -> E.		xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCGGGCTGTGATATTGCCAC	0.498000													18	52					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215807728	215807728	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:215807728C>T	ENST00000272895.7	-	50	7576	c.7357G>A	c.(7357-7359)Gaa>Aaa	p.E2453K	ABCA12_ENST00000389661.4_Missense_Mutation_p.E2135K|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2453	ABC transporter 2.				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)		CAGAGAGCTTCACATTCTTCC	0.378000													11	35					0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100904735	100904735	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:100904735G>A	ENST00000548884.1	+	4	800	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	NR1H4_ENST00000551379.1_Missense_Mutation_p.E97K|NR1H4_ENST00000188403.7_Missense_Mutation_p.E97K|NR1H4_ENST00000392986.3_Missense_Mutation_p.E87K|NR1H4_ENST00000549996.1_Missense_Mutation_p.E87K	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	97					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						TGGAATATATGAACTCAGGCG	0.522000													36	55					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116397530	116397530	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:116397530C>T	ENST00000397752.3	+	7	2102	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	MET_ENST00000318493.6_Silent_p.F634F|MET_ENST00000436117.2_Silent_p.F634F	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	634	IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATAAGCATTTCAATATGTCCA	0.348000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				21	13					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133236	57133236	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:57133236C>T	ENST00000328070.6	+	3	815	c.581C>T	c.(580-582)gCc>gTc	p.A194V		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	194						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGCGGCAAGGCCTTCAGCCAG	0.642000													24	42					0	0	1	0	0
SNTB2	6645	broad.mit.edu	37	16	69333599	69333599	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:69333599C>T	ENST00000336278.4	+	6	1490	c.1452C>T	c.(1450-1452)ccC>ccT	p.P484P	VPS4A_ENST00000569775.1_3'UTR|RP11-343C2.3_ENST00000570054.2_Silent_p.P5P	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	484	SU.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		ACCGCTACCCCTTTGAAAGGC	0.453000													17	58					0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205632615	205632615	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:205632615G>A	ENST00000367145.3	-	3	599	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	102					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CTTGGGATGAGAAAGAGGCTC	0.677000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								19	35					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576534	158576534	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:158576534C>T	ENST00000361284.1	+	1	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F102L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCCAGATGTTCTTTTCTGCCT	0.557000													62	116					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44917257	44917257	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:44917257C>A	ENST00000429094.2	-	17	2319	c.1815G>T	c.(1813-1815)gaG>gaT	p.E605D	NELL2_ENST00000551601.1_Missense_Mutation_p.E557D|NELL2_ENST00000395487.2_Missense_Mutation_p.E604D|NELL2_ENST00000333837.4_Missense_Mutation_p.E628D|NELL2_ENST00000452445.2_Missense_Mutation_p.E605D|NELL2_ENST00000437801.2_Missense_Mutation_p.E655D|NELL2_ENST00000549027.1_Missense_Mutation_p.E604D	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	605	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CGGTCCCACACTCATCAATAT	0.448000													27	27					4.59853e-10	4.6879e-10	1	1	0
OR10P1	121130	broad.mit.edu	37	12	56030935	56030935	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:56030935C>T	ENST00000309675.2	+	1	292	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						AATCTGGGCTCCCCGCATCCC	0.617000													28	53					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810635	123810635	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:123810635C>T	ENST00000307033.2	+	1	386	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTTCTTCTTCCACTTCATTG	0.493000													29	57					0	0	1	0	0
AGFG1	3267	broad.mit.edu	37	2	228418503	228418503	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:228418503C>T	ENST00000310078.7	+	12	1881	c.1621C>T	c.(1621-1623)Cct>Tct	p.P541S	AGFG1_ENST00000373671.3_Missense_Mutation_p.P501S|AGFG1_ENST00000409171.1_Missense_Mutation_p.P539S|AGFG1_ENST00000409979.2_Missense_Mutation_p.P563S|AGFG1_ENST00000409315.1_Missense_Mutation_p.P520S	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	541					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						ATCTAGTAATCCTTTTATGGT	0.318000													22	56					0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176409576	176409576	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:176409576G>A	ENST00000377219.2	-	2	207	c.41C>T	c.(40-42)tCt>tTt	p.S14F	UIMC1_ENST00000506128.1_Missense_Mutation_p.S14F|UIMC1_ENST00000377227.4_Missense_Mutation_p.S14F|UIMC1_ENST00000511320.1_Missense_Mutation_p.S14F	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	14	Necessary for transcriptional repression.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGTTCCGAGATTCGGAGAC	0.373000													27	32					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031341	56031341	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:56031341C>T	ENST00000309675.2	+	1	698	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						ACATCCGCATCCTGGGTGCCA	0.552000													45	90					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714018	183714018	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:183714018G>A	ENST00000511685.1	+	26	6316	c.6193G>A	c.(6193-6195)Gat>Aat	p.D2065N	TENM3_ENST00000406950.2_Missense_Mutation_p.D2065N					teneurin transmembrane protein 3																		TATATATTATGATATTAACCA	0.388000													19	18					0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212241963	212241963	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:212241963T>A	ENST00000366991.4	+	10	1154	c.840T>A	c.(838-840)gaT>gaA	p.D280E	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.D238E	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	280					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TGATTTTGGATTCCACTGGCT	0.363000													10	25					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796685	109796685	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:109796685C>T	ENST00000297459.3	-	2	821	c.643G>A	c.(643-645)Gag>Aag	p.E215K	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	215					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TCCAGGCGCTCCATCTCCCGG	0.622000													27	71					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:241262011G>A	ENST00000366565.1	-	3	511	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000348120.2_Missense_Mutation_p.R44C|RGS7_ENST00000366564.1_Missense_Mutation_p.R44C|RGS7_ENST00000407727.1_Missense_Mutation_p.R44C|RGS7_ENST00000331110.7_Missense_Mutation_p.R18C|RGS7_ENST00000401882.1_Missense_Mutation_p.R44C|RGS7_ENST00000366562.4_Missense_Mutation_p.R44C|RGS7_ENST00000366563.1_Missense_Mutation_p.R44C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000													9	19					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37295921	37295921	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:37295921G>A	ENST00000233099.5	-	8	1175	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	HEATR5B_ENST00000354531.2_Silent_p.I360I	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	360							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TAGCTCTTAGGATAAAGGAAA	0.473000													26	33					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32332521	32332521	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr13:32332521G>A	ENST00000298386.2	+	2	292	c.221G>A	c.(220-222)gGg>gAg	p.G74E	RXFP2_ENST00000380314.1_Missense_Mutation_p.G74E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	74	LDL-receptor class A.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGTGGGAACGGGGCGGACGAA	0.507000													36	61					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33954165	33954165	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:33954165C>T	ENST00000361328.3	+	3	671	c.518C>T	c.(517-519)tCc>tTc	p.S173F	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.S173F|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	173					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGGGACAGTCCCAGAAGAAG	0.537000													13	36					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138333786	138333786	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:138333786G>A	ENST00000421622.1	-	4	479	c.271C>T	c.(271-273)Ccg>Tcg	p.P91S	SVOPL_ENST00000288513.5_Missense_Mutation_p.P59S|SVOPL_ENST00000436657.1_Missense_Mutation_p.P59S|SVOPL_ENST00000419765.3_Missense_Mutation_p.P211S			Q8N434	SVOPL_HUMAN	SVOP-like	211						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ATGATGCCCGGGATGGAGGCG	0.612000													22	66					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097408	167097408	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:167097408G>A	ENST00000361200.2	+	6	3206	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K	DUSP27_ENST00000271385.5_Missense_Mutation_p.E1014K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.E1014K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1014	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						CTCCACCAGGGAGGGCAGAGA	0.557000													20	43					0	0	1	0	0
AKR1A1	10327	broad.mit.edu	37	1	46034249	46034249	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:46034249C>T	ENST00000372070.3	+	7	1392	c.645C>T	c.(643-645)tcC>tcT	p.S215S	AKR1A1_ENST00000351829.4_Silent_p.S215S	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	215					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					CTTTGGGCTCCTCTGATCGTG	0.542000													26	42					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115091187	115091187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr13:115091187C>T	ENST00000361283.1	+	3	2179	c.1870C>T	c.(1870-1872)Caa>Taa	p.Q624*		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	624	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										GAAAGACAACCAAGAGAGCTC	0.388000													30	57					0	0	1	0	0
CCDC102A	92922	broad.mit.edu	37	16	57559838	57559838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:57559838G>A	ENST00000258214.2	-	3	1033	c.787C>T	c.(787-789)Cag>Tag	p.Q263*		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	263										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						AGCACCTTCTGGGACTCATCC	0.667000													12	49					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193039583	193039583	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:193039583G>A	ENST00000342358.4	-	16	1919	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	601					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGGCTCGAGGAAAATGGAAA	0.502000													22	22					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37488226	37488226	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:37488226C>T	ENST00000455427.2	+	9	1770	c.1441C>T	c.(1441-1443)Cgt>Tgt	p.R481C		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGTCCTTTCGTCGTGGCTC	0.443000													7	10					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7668868	7668868	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:7668868G>A	ENST00000572933.1	+	21	4956	c.3496G>A	c.(3496-3498)Gat>Aat	p.D1166N	DNAH2_ENST00000389173.2_Missense_Mutation_p.D1166N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1166	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTTCTGGAAGATTTCGAATT	0.483000													33	49					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568258	223568258	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:223568258G>A	ENST00000366875.3	+	1	1544	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	481										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGCCCAGAAGGAGGAAGAGCA	0.592000													23	42					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8873701	8873701	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:8873701G>A	ENST00000256707.3	-	29	4107	c.3926C>T	c.(3925-3927)tCc>tTc	p.S1309F	KIDINS220_ENST00000427284.1_Missense_Mutation_p.S1290F|KIDINS220_ENST00000418530.1_Missense_Mutation_p.S1210F|KIDINS220_ENST00000473731.1_Missense_Mutation_p.S1290F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1309					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCGTTGTGGGAAGCGCGGCG	0.612000													41	68					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111944562	111944562	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr13:111944562G>A	ENST00000375741.2	+	20	2545	c.2295G>A	c.(2293-2295)ttG>ttA	p.L765L	ARHGEF7_ENST00000317133.5_Silent_p.L744L|ARHGEF7_ENST00000426073.2_Intron|ARHGEF7_ENST00000478679.1_Silent_p.L509L|ARHGEF7_ENST00000375737.5_Intron|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375739.2_Silent_p.L715L|ARHGEF7_ENST00000218789.5_Silent_p.L587L|ARHGEF7_ENST00000375723.1_Silent_p.L587L|ARHGEF7_ENST00000375736.4_Intron	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	765					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTTCTCGTTTGGAGCCTTCAG	0.493000													32	60					0	0	1	0	0
ATF7	11016	broad.mit.edu	37	12	53928382	53928382	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:53928382G>A	ENST00000420353.2	-	6	613	c.464C>T	c.(463-465)tCc>tTc	p.S155F	RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.S155F|ATF7_ENST00000548446.2_Missense_Mutation_p.S166F|ATF7_ENST00000415113.1_Missense_Mutation_p.S134F|ATF7_ENST00000328463.7_Missense_Mutation_p.S166F|ATF7_ENST00000456903.4_Missense_Mutation_p.S155F	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	166	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GAGAGGCAGGGAGCCAGGACG	0.512000													37	42					0	0	1	0	0
TBC1D28	254272	broad.mit.edu	37	17	18544609	18544609	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:18544609G>A	ENST00000345096.4	-	3	756	c.57C>T	c.(55-57)atC>atT	p.I19I	TBC1D28_ENST00000405044.1_Silent_p.I19I			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	19						intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						ACTTAGTAATGATGATATTGC	0.587000													21	37					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128113084	128113084	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr9:128113084C>A	ENST00000470056.1	+	20	3581	c.3421C>A	c.(3421-3423)Cgc>Agc	p.R1141S	GAPVD1_ENST00000265956.4_Missense_Mutation_p.R1160S|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R1168S|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R1147S|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R1195S|GAPVD1_ENST00000495955.1_Missense_Mutation_p.R1186S|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R1120S|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R1186S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1186					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGAAACAATGCGCTGTGTGTG	0.363000													27	14					4.7796e-09	4.85534e-09	1	1	0
KRT6B	3854	broad.mit.edu	37	12	52842677	52842677	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:52842677G>A	ENST00000252252.3	-	6	1199	c.1152C>T	c.(1150-1152)atC>atT	p.I384I		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	384	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCATGCGGTTGATCTCAGCAA	0.522000													32	53					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44083579	44083579	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:44083579C>T	ENST00000359947.4	+	25	4708	c.4368C>T	c.(4366-4368)tcC>tcT	p.S1456S	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.S1447S|PTPRF_ENST00000372414.3_Silent_p.S1456S|PTPRF_ENST00000422171.2_Silent_p.S815S|PTPRF_ENST00000438120.1_Silent_p.S1447S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1456	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGAGAAGTCCCGGGTGAGGC	0.632000													5	14					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	21					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88892695	88892695	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:88892695C>T	ENST00000556553.1	+	6	955	c.396C>T	c.(394-396)tcC>tcT	p.S132S	SPATA7_ENST00000045347.7_Silent_p.S164S|SPATA7_ENST00000356583.5_Silent_p.S132S|SPATA7_ENST00000393545.4_Silent_p.S164S			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	164					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TACATAAATCCAGTAAAGTCA	0.468000													28	42					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17211736	17211736	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:17211736C>T	ENST00000261381.6	-	11	2408	c.2324G>A	c.(2323-2325)gGa>gAa	p.G775E		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	775					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACATTAGGTCCCTTCCCCCA	0.567000													26	46					0	0	1	0	0
AP1S3	130340	broad.mit.edu	37	2	224630016	224630016	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:224630016C>T	ENST00000443700.1	-	4	494	c.343G>A	c.(343-345)Gac>Aac	p.D115N	AP1S3_ENST00000446015.2_Missense_Mutation_p.D115N|AP1S3_ENST00000396653.2_3'UTR|AP1S3_ENST00000396654.2_Missense_Mutation_p.D115N			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	115					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATAAACTCGTCCAGGATGAAA	0.388000													17	27					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32194798	32194798	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr20:32194798C>T	ENST00000346541.3	+	3	635	c.98C>T	c.(97-99)tCg>tTg	p.S33L	CBFA2T2_ENST00000397800.1_Missense_Mutation_p.S4L|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.S4L|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.S24L|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.S4L|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.S43L|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.S33L	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	33	Pro-rich.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						ATGCCTGGATCGCCTGTGGAA	0.502000													34	58					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50125577	50125577	+	RNA	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chrX:50125577C>T	ENST00000376025.2	-	0	2633							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGTAGTTGTTCATGACACATT	0.403000													11	5					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61747829	61747829	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:61747829C>T	ENST00000577390.1	-	10	2524	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000577730.1_Missense_Mutation_p.D524N|CDH8_ENST00000299345.6_Missense_Mutation_p.D524N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	524	Cadherin 5.				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)		TTTTTGGGATCATCTTTGTCC	0.378000													34	31					0	0	1	0	0
FAM21B	55747	broad.mit.edu	37	10	47948829	47948829	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr10:47948829C>T	ENST00000358474.5	+	29	3738	c.3738C>T	c.(3736-3738)ccC>ccT	p.P1246P		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	1246					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TTGATGATCCCCTGAATGCCT	0.478000													20	8					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56222427	56222427	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:56222427G>A	ENST00000357606.3	-	3	305	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	DNAJC14_ENST00000317287.5_Missense_Mutation_p.P6S|DNAJC14_ENST00000317269.3_Missense_Mutation_p.P6S			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	6					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTTTCTCCGGGGTGCTTCTGG	0.557000													24	24					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3530836	3530836	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:3530836C>T	ENST00000441788.2	+	8	937	c.701C>T	c.(700-702)tCc>tTc	p.S234F	FZR1_ENST00000313639.8_Missense_Mutation_p.S145F|FZR1_ENST00000395095.3_Missense_Mutation_p.S234F	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	234					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGTGACCTCCGTGGGCTGG	0.627000													8	18					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170717	113170717	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr9:113170717G>A	ENST00000401783.2	-	38	7499	c.7163C>T	c.(7162-7164)tCc>tTc	p.S2388F	SVEP1_ENST00000297826.5_Missense_Mutation_p.S314F|SVEP1_ENST00000374469.1_Missense_Mutation_p.S2365F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2388	Sushi 17.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GACACCAAAGGAAATTAGGGG	0.458000													10	7					0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563528	228563528	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:228563528G>A	ENST00000258403.3	-	3	974	c.903C>T	c.(901-903)atC>atT	p.I301I	SLC19A3_ENST00000541617.1_Silent_p.I297I|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	301					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AATCCCACAGGATTTGAACAT	0.438000													48	47					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032559	55032559	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:55032559G>A	ENST00000417545.2	+	2	314	c.228G>A	c.(226-228)caG>caA	p.Q76Q		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	60						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACAATACAGCAGAGAAACC	0.458000													57	64					0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110687959	110687959	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:110687959C>T	ENST00000394634.2	-	2	286	c.79G>A	c.(79-81)Gat>Aat	p.D27N	CFI_ENST00000394635.3_Missense_Mutation_p.D27N|CFI_ENST00000512148.1_Missense_Mutation_p.D27N|CFI_ENST00000510800.1_Missense_Mutation_p.D27N	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	27					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCCACCAGATCCTCTTGAGAT	0.393000													14	25					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24196460	24196460	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:24196460C>T	ENST00000303531.7	+	14	1714	c.1562C>T	c.(1561-1563)tCc>tTc	p.S521F	PRKCB_ENST00000321728.7_Missense_Mutation_p.S521F	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	521	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TATGGGAAGTCCGTGGATTGG	0.453000													28	54					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2996169	2996169	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:2996169C>T	ENST00000331459.1	-	1	121	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	41					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GAGCACATTTCCCACCACCGT	0.547000													48	78					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150558071	150558071	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:150558071C>T	ENST00000493429.1	+	7	2614	c.2030C>T	c.(2029-2031)cCc>cTc	p.P677L	AOC1_ENST00000360937.4_Missense_Mutation_p.P677L|AOC1_ENST00000467291.1_Missense_Mutation_p.P677L|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.P696L					amine oxidase, copper containing 1																		CTGCACATCCCCCACTCAGAG	0.632000													21	111					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155242266	155242266	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:155242266C>T	ENST00000357232.3	-	14	2919	c.2920G>A	c.(2920-2922)Gat>Aat	p.D974N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	974	Cadherin 8.				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)		TGAAGGTGATCAGATGACTTT	0.338000													5	23					0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68671264	68671264	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:68671264G>A	ENST00000362034.2	-	1	24	c.15C>T	c.(13-15)tcC>tcT	p.S5S		NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	5					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGACCGTCAGGGAAGATGCTG	0.677000													61	68					0	0	1	0	0
IFNL2	282616	broad.mit.edu	37	19	39760185	39760185	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:39760185G>A	ENST00000331982.5	+	4	383	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_172138.1	NP_742150.1			interferon, lambda 2																		GAAGGTTCTGGAGGCCACCGC	0.642000													24	45					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113636988	113636988	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:113636988C>T	ENST00000361127.4	+	5	741	c.543C>T	c.(541-543)acC>acT	p.T181T		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	181						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GAATAACCACCTTGGAGGCTG	0.323000													6	18					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53056775	53056775	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:53056775C>T	ENST00000359798.4	+	5	786	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GGCCCCAAATCCATATTTCTA	0.368000													32	52					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85970835	85970835	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr10:85970835G>A	ENST00000372117.3	+	13	1502	c.1399G>A	c.(1399-1401)Gac>Aac	p.D467N	CDHR1_ENST00000332904.3_Missense_Mutation_p.D467N|CDHR1_ENST00000440770.2_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	467	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGACACCAATGACAATGTCCC	0.577000													53	34					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2044098	2044098	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:2044098C>T	ENST00000262113.4	+	18	2278	c.2137C>T	c.(2137-2139)Cat>Tat	p.H713Y	MYOM2_ENST00000523438.1_Missense_Mutation_p.H138Y	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	713	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGTCCCGTCCCATCCTTATGG	0.622000													55	102					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20066875	20066875	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:20066875C>T	ENST00000396085.1	+	14	3922	c.3561C>T	c.(3559-3561)aaC>aaT	p.N1187N	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000527559.2_Silent_p.N1139N|NAV2_ENST00000540292.1_Silent_p.N1141N|NAV2_ENST00000349880.4_Silent_p.N1187N|NAV2_ENST00000396087.3_Silent_p.N1210N|NAV2_ENST00000311043.8_Silent_p.N273N|NAV2_ENST00000533917.1_Silent_p.N273N|NAV2_ENST00000360655.4_Silent_p.N1123N	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1210						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCCGGACAAACCTTCAGTACC	0.552000													15	41					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69380954	69380954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:69380954G>A	ENST00000337103.4	+	3	1894	c.302G>A	c.(301-303)tGg>tAg	p.W101*	C8orf34_ENST00000518698.1_Nonsense_Mutation_p.W212*|C8orf34_ENST00000348340.2_Nonsense_Mutation_p.W126*|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000539993.1_Nonsense_Mutation_p.W126*			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	126					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CATCCAAAGTGGAACTGGAGG	0.408000													8	31					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46912627	46912627	+	Splice_Site	SNP	C	C	T	rs143339443	by1000genomes	TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr21:46912627C>T	ENST00000359759.4	+	23	3480	c.3459_splice	c.e23+1	p.P1153_splice	COL18A1_ENST00000400337.2_Splice_Site_p.P738_splice|COL18A1_ENST00000355480.5_Splice_Site_p.P918_splice			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1153	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CAGGCTTTCCCGTGAGTAACC	0.692000													33	66					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99799476	99799476	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:99799476C>T	ENST00000426455.1	+	22	2695	c.2288C>T	c.(2287-2289)tCa>tTa	p.S763L	GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.S763L|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.S705L			Q9UJ98	STAG3_HUMAN	stromal antigen 3	763					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATTTCTAAATCAGATGCTTCC	0.448000													25	51					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	33036137	33036137	+	Missense_Mutation	SNP	G	G	A	rs147021005		TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:33036137G>A	ENST00000317907.4	+	17	2276	c.2045G>A	c.(2044-2046)cGa>cAa	p.R682Q		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	682							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ATGACTGATCGAAGTGGAGAT	0.408000													28	30					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328443	61328443	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr18:61328443G>A	ENST00000283752.5	-	2	151	c.8C>T	c.(7-9)tCa>tTa	p.S3L	SERPINB3_ENST00000332821.8_Missense_Mutation_p.S3L|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	3					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTCACTGAGTGAATTCATGGT	0.383000													34	99					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752712	141752712	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:141752712C>T	ENST00000475668.2	+	26	3141	c.3087C>T	c.(3085-3087)gcC>gcT	p.A1029A	MGAM_ENST00000549489.2_Silent_p.A1029A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1029					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)	ATGCCAATGCCTTCCCCTCCA	0.463000													27	55					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773553	25773553	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:25773553G>A	ENST00000377905.4	+	7	876	c.757G>A	c.(757-759)Gat>Aat	p.D253N	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	253					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATTTATGATGATCCTGTGAA	0.438000													38	61					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121259890	121259890	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:121259890G>A	ENST00000297848.3	+	21	2788	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K	COL14A1_ENST00000309791.4_Missense_Mutation_p.E840K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E745K|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	840	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTGTCCGAGGAATGGTATAA	0.473000													48	39					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43316307	43316307	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:43316307C>T	ENST00000361428.2	-	6	2904	c.2827G>A	c.(2827-2829)Gtg>Atg	p.V943M	ZNF318_ENST00000318149.3_Missense_Mutation_p.V943M	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	943					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCACCTCCACCAAGAGAGGA	0.458000													55	72					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71095086	71095086	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:71095086G>A	ENST00000283228.2	-	7	1477	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F	PTPRR_ENST00000440835.2_Missense_Mutation_p.S97F|PTPRR_ENST00000378778.1_Missense_Mutation_p.S136F|PTPRR_ENST00000342084.4_Missense_Mutation_p.S230F|PTPRR_ENST00000549308.1_Missense_Mutation_p.S97F	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	342					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CAATGTAAGAGATACGTTGGA	0.413000													18	36					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38136476	38136476	+	Missense_Mutation	SNP	G	G	A	rs34290809	by1000genomes	TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:38136476G>A	ENST00000308059.6	+	13	2047	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	DLEC1_ENST00000452631.2_Missense_Mutation_p.E676K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E676K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	676					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCCGACAAGGAGACTGCCTT	0.552000													30	42					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70974880	70974880	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:70974880G>A	ENST00000334414.6	-	10	2558	c.2514C>T	c.(2512-2514)tcC>tcT	p.S838S	PTPRB_ENST00000551525.1_Silent_p.S837S|PTPRB_ENST00000451516.2_Silent_p.S530S|PTPRB_ENST00000538708.1_Silent_p.S620S|PTPRB_ENST00000261266.5_Silent_p.S620S|PTPRB_ENST00000550857.1_Silent_p.S530S|PTPRB_ENST00000550358.1_Silent_p.S838S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	620	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S620S(2)|p.S838S(1)		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)			TTACCACCACGGAGTACAGGC	0.458000													32	85					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39904963	39904963	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:39904963G>A	ENST00000564288.1	+	72	19015	c.18238G>A	c.(18238-18240)Gat>Aat	p.D6080N	MACF1_ENST00000289893.4_Missense_Mutation_p.D4523N|MACF1_ENST00000567887.1_Missense_Mutation_p.D6117N|MACF1_ENST00000317713.7_Missense_Mutation_p.D4021N|MACF1_ENST00000545844.1_Missense_Mutation_p.D4021N|MACF1_ENST00000539005.1_Missense_Mutation_p.D3891N|MACF1_ENST00000361689.2_Missense_Mutation_p.D4021N|MACF1_ENST00000372915.3_Missense_Mutation_p.D5979N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6088					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGATAAATTGGATCAAATGGT	0.378000													9	14					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53700370	53700370	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:53700370C>T	ENST00000288139.3	+	7	1042	c.924C>T	c.(922-924)atC>atT	p.I308I	CACNA1D_ENST00000422281.2_Silent_p.I308I|CACNA1D_ENST00000350061.5_Silent_p.I308I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	308					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTGCAGATATCGTAGCTGAAG	0.567000													66	119					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65871563	65871563	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:65871563C>T	ENST00000395325.3	+	16	2224	c.2067C>T	c.(2065-2067)tcC>tcT	p.S689S	DNAJC6_ENST00000263441.7_Silent_p.S676S|DNAJC6_ENST00000371069.4_Silent_p.S746S	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	689	Pro-rich.				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						GTAGTTCTTCCTTTGCCAGCA	0.488000													33	53					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100334177	100334177	+	RNA	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:100334177G>A	ENST00000542585.1	+	0	326				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_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)			GTCCGCAGACGATGAAGACTG	0.607000													91	138					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39823056	39823056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:39823056C>T	ENST00000564288.1	+	45	12211	c.11434C>T	c.(11434-11436)Caa>Taa	p.Q3812*	MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q2252*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q3849*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q1750*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q1750*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q1750*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q1750*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q3817*|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3817					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCCCGTCACCAAGAATTGCT	0.468000													25	38					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010865	59010865	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:59010865G>A	ENST00000263093.2	-	7	1770	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I	SLC27A5_ENST00000601355.1_Missense_Mutation_p.T470I	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		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;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGACCGGAAGGTGTCCCCGAG	0.657000													29	28					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156773408	156773408	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:156773408G>A	ENST00000537611.2	-	4	692	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	216						integral to membrane|plasma membrane											TTTGCTTGGAGAGTTTCACCA	0.353000													7	32					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38136475	38136475	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:38136475G>A	ENST00000308059.6	+	13	2046	c.2025G>A	c.(2023-2025)aaG>aaA	p.K675K	DLEC1_ENST00000452631.2_Silent_p.K675K|DLEC1_ENST00000346219.3_Silent_p.K675K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	675					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACCCCGACAAGGAGACTGCCT	0.547000													30	41					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216295443	216295443	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:216295443G>A	ENST00000354785.4	-	5	1049	c.680C>T	c.(679-681)tCt>tTt	p.S227F	FN1_ENST00000357867.4_Missense_Mutation_p.S227F|FN1_ENST00000346544.3_Missense_Mutation_p.S227F|FN1_ENST00000356005.4_Missense_Mutation_p.S227F|FN1_ENST00000336916.4_Missense_Mutation_p.S227F|FN1_ENST00000345488.5_Missense_Mutation_p.S227F|FN1_ENST00000426059.1_Missense_Mutation_p.S227F|FN1_ENST00000357009.2_Missense_Mutation_p.S227F|FN1_ENST00000446046.1_Missense_Mutation_p.S227F|FN1_ENST00000443816.1_Missense_Mutation_p.S227F|FN1_ENST00000432072.2_Missense_Mutation_p.S227F|FN1_ENST00000421182.1_Missense_Mutation_p.S227F|FN1_ENST00000359671.1_Missense_Mutation_p.S227F|FN1_ENST00000323926.6_Missense_Mutation_p.S227F			P02751	FINC_HUMAN	fibronectin 1	227	Fibrin- and heparin-binding 1.|Fibronectin type-I 4.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATACTTCTAGAAGTGCAAGT	0.438000													29	26					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097407	167097407	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:167097407G>A	ENST00000361200.2	+	6	3205	c.3039G>A	c.(3037-3039)agG>agA	p.R1013R	DUSP27_ENST00000271385.5_Silent_p.R1013R|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.R1013R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1013	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						CCTCCACCAGGGAGGGCAGAG	0.557000													20	42					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95694306	95694306	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:95694306C>T	ENST00000436874.1	+	12	2302	c.2197C>T	c.(2197-2199)Cca>Tca	p.P733S	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.P685S	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	733						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ACAGCTGTCACCAGATTTTAC	0.537000													19	31					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24798657	24798657	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:24798657G>A	ENST00000310677.4	-	10	1413	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	ADCY4_ENST00000418030.2_Missense_Mutation_p.P434S|ADCY4_ENST00000554068.2_Missense_Mutation_p.P434S|ADCY4_ENST00000396747.3_Missense_Mutation_p.P127S	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	434					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|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGAAGGTAGGGGTCCCGATGC	0.637000													43	54					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158632735	158632735	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:158632735C>T	ENST00000368148.3	-	17	2401	c.2220_splice	c.e17-1	p.D741_splice	SPTA1_ENST00000368147.3_Splice_Site_p.D741_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	741					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCACCTGATCCTAAGGGAGA	0.433000													9	29					0	0	1	0	0
PTGES2	80142	broad.mit.edu	37	9	130885304	130885304	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr9:130885304G>A	ENST00000338961.6	-	5	1540	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	PTGES2_ENST00000277462.5_Missense_Mutation_p.R75C|PTGES2_ENST00000483625.1_5'UTR	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	266	GST C-terminal.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						TTGCCCTCGCGGACAATGTAG	0.627000													38	22					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152226589	152226589	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chrX:152226589C>T	ENST00000447306.1	+	2	1513	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	PNMA3_ENST00000370265.4_Nonsense_Mutation_p.R393*|PNMA3_ENST00000370264.4_Nonsense_Mutation_p.R393*	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	393	Arg-rich.				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	p.R393*(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCCAACACCGAAGGGGTGG	0.607000													27	13					0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87100124	87100124	+	RNA	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:87100124C>T	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							AAAACTCATTCAAAACATAAA	0.318000													8	18					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188206	37188206	+	RNA	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:37188206C>T	ENST00000425901.2	+	0	2048					NR_033753.2																						GGGTCAGGCTCAGCATTCAAA	0.493000													31	58					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262677	140262677	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:140262677G>A	ENST00000289272.2	+	1	824	c.824G>A	c.(823-825)gGa>gAa	p.G275E	PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G275E|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTACAAATGGAGATATAGTT	0.383000													29	11					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74159195	74159195	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:74159195C>T	ENST00000324896.4	+	21	2238	c.1849C>T	c.(1849-1851)Ccc>Tcc	p.P617S	GTF2I_ENST00000416070.1_Missense_Mutation_p.P576S|GTF2I_ENST00000353920.4_Missense_Mutation_p.P597S|GTF2I_ENST00000346152.4_Missense_Mutation_p.P596S|GTF2I_ENST00000438130.2_3'UTR	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	617					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGAGGGGATTCCCTTCCGAAG	0.458000													13	33					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87628917	87628917	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr10:87628917G>A	ENST00000327946.7	-	6	886	c.801C>T	c.(799-801)atC>atT	p.I267I		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	267						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCAGATCCAGGATCTCCGGGT	0.507000										Multiple Myeloma(13;0.14)			34	23					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47406790	47406790	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr18:47406790C>T	ENST00000285039.7	-	23	3380	c.3081G>A	c.(3079-3081)ttG>ttA	p.L1027L	MYO5B_ENST00000324581.6_Silent_p.L168L	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1027					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTCATCTTTCAAGAGAGCAT	0.443000													32	68					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34134610	34134610	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr21:34134610G>A	ENST00000331923.4	-	4	857	c.668C>T	c.(667-669)gCt>gTt	p.A223V	PAXBP1_ENST00000290178.4_Missense_Mutation_p.A223V|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		ATGTATAAAAGCTGCATCTGG	0.393000													13	13					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56304625	56304625	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:56304625T>C	ENST00000309964.4	-	21	2435	c.2185A>G	c.(2185-2187)Atg>Gtg	p.M729V	CLOCK_ENST00000381322.1_Missense_Mutation_p.M729V|CLOCK_ENST00000513440.1_Missense_Mutation_p.M729V	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	729					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CCCATAAGCATAGTACTAGGT	0.463000													21	29					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8131142	8131142	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:8131142C>T	ENST00000600128.1	-	64	8505	c.8091G>A	c.(8089-8091)gtG>gtA	p.V2697V	FBN3_ENST00000601739.1_Silent_p.V2697V|FBN3_ENST00000270509.2_Silent_p.V2697V			Q75N90	FBN3_HUMAN	fibrillin 3	2697						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGCCAGGTTCACCTGGGAAG	0.652000													5	9					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71443893	71443893	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:71443893C>T	ENST00000304743.2	+	6	1285	c.839C>T	c.(838-840)cCg>cTg	p.P280L	PCNX_ENST00000238570.5_Missense_Mutation_p.P280L|PCNX_ENST00000439984.3_Missense_Mutation_p.P280L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	280						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GACCACCGGCCGCGAGGTGTA	0.483000													25	58					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55524260	55524260	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:55524260G>A	ENST00000543384.1	+	7	1050	c.791G>A	c.(790-792)aGg>aAg	p.R264K	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000302118.5_Silent_p.E481E			Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	0	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCCCAGATGAGGAGCTGCTGA	0.622000													28	38					0	0	1	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061756	11061756	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:11061756G>A	ENST00000390677.2	-	1	405	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	48					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AAGATAATGAGGAGTTTATCG	0.393000													12	24					0	0	1	0	0
CDC25B	994	broad.mit.edu	37	20	3782981	3782981	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr20:3782981C>T	ENST00000245960.5	+	11	1849	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	CDC25B_ENST00000344256.6_Silent_p.L320L|CDC25B_ENST00000439880.2_Silent_p.L370L|CDC25B_ENST00000379598.5_Silent_p.L293L|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Silent_p.L343L	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	384					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TCGAGAACCTCCTGGACAGTG	0.577000													24	52					0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42907841	42907841	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr20:42907841G>A	ENST00000342560.5	+	6	1093	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	GDAP1L1_ENST00000537864.1_Silent_p.K143K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	335	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCTGGTCAAGAGGAAACCCC	0.567000													60	84					0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117780598	117780598	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:117780598G>A	ENST00000528626.1	-	7	1000	c.927C>T	c.(925-927)caC>caT	p.H309H	TMPRSS13_ENST00000445164.2_Silent_p.H344H|TMPRSS13_ENST00000526090.1_Silent_p.H344H|TMPRSS13_ENST00000430170.2_Silent_p.H344H|TMPRSS13_ENST00000524993.1_Silent_p.H344H	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	339	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGGTGCCGAAGTGCAGACTCA	0.632000													27	50					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228247952	228247952	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:228247952C>A	ENST00000366753.2	+	5	1152	c.1105C>A	c.(1105-1107)Caa>Aaa	p.Q369K	WNT3A_ENST00000284523.1_3'UTR			P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	0					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACCTCATCCCCAACCCCCTGT	0.637000													46	76					8.04919e-23	8.30837e-23	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110822023	110822023	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr13:110822023G>A	ENST00000375820.4	-	43	3950	c.3829C>T	c.(3829-3831)Ccc>Tcc	p.P1277S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1277	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)			GGGACACCGGGTGCTCCTGGC	0.517000													49	53					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132016217	132016217	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:132016217A>G	ENST00000374786.1	+	2	688	c.209A>G	c.(208-210)aAc>aGc	p.N70S	NTM_ENST00000374791.3_Missense_Mutation_p.N70S|NTM_ENST00000539799.1_Missense_Mutation_p.N70S|NTM_ENST00000427481.2_Missense_Mutation_p.N61S|NTM_ENST00000425719.2_Missense_Mutation_p.N70S|NTM_ENST00000374784.1_Missense_Mutation_p.N70S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	70	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GCCTGGCTAAACCGCAGCACC	0.572000													27	42					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155746198	155746198	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:155746198G>A	ENST00000437809.1	-	16	2288	c.2166C>T	c.(2164-2166)acC>acT	p.T722T	GON4L_ENST00000271883.5_Silent_p.T722T|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.T722T|GON4L_ENST00000361040.5_Silent_p.T722T			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	722					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAATATCCTGGTGGTAGTGG	0.423000													24	19					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	405007	405007	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:405007C>T	ENST00000256509.2	+	14	2168	c.1526C>T	c.(1525-1527)tCa>tTa	p.S509L	CHL1_ENST00000397491.2_Missense_Mutation_p.S493L	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	493	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)		GGGTCTTACTCATGTTGGGTA	0.408000													18	29					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541623	96541623	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr10:96541623C>T	ENST00000371321.3	+	5	770	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	230					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.H230Y(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CCCGGGAACCCATAACAAATT	0.303000													6	6					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273443	125273443	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr9:125273443C>T	ENST00000335302.5	+	1	363	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TGGCATATGACCGATATGTTG	0.403000													27	14					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879638	3879638	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr18:3879638G>A	ENST00000315677.3	-	4	1026	c.431C>T	c.(430-432)tCg>tTg	p.S144L	DLGAP1_ENST00000584874.1_Missense_Mutation_p.S144L|DLGAP1_ENST00000515196.2_Missense_Mutation_p.S144L|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Missense_Mutation_p.S144L	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	144					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)				CTTCTGGACCGAGTGCACCAG	0.701000													57	48					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47869643	47869643	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:47869643G>A	ENST00000289672.2	-	43	6603	c.6553C>T	c.(6553-6555)Ctt>Ttt	p.L2185F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2185					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTTACCATAAGTGGCTGGGTG	0.527000													8	17					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019991	56019991	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:56019991G>A	ENST00000303059.3	+	1	316	c.316G>A	c.(316-318)Gtt>Att	p.V106I		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CTATTCTACAGTTGTCACTCC	0.373000													30	38					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871330	51871330	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr20:51871330C>T	ENST00000371497.5	+	2	2220	c.1333C>T	c.(1333-1335)Cca>Tca	p.P445S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.P442S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P442S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	445					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGCTCCCAAGCCATCCAGTAA	0.468000													48	82					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81627102	81627102	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr15:81627102G>A	ENST00000558726.1	-	21	2556	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.L806L|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	806						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGACCCCAGGGAGAGGTGAGC	0.557000													24	39					0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872492	136872492	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:136872492C>T	ENST00000409817.1	-	1	1321	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	CXCR4_ENST00000241393.3_Missense_Mutation_p.G336R|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	336					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GATGAATGTCCACCTCGCTTT	0.423000													8	18					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923188	35923188	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:35923188T>G	ENST00000490799.1	-	17	2326	c.1973A>C	c.(1972-1974)gAa>gCa	p.E658A	SLC26A8_ENST00000355574.2_Missense_Mutation_p.E658A|SLC26A8_ENST00000394602.2_Missense_Mutation_p.E553A	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	658	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CACTTGGTCTTCGGATGCAGT	0.443000													80	89					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	131999021	131999021	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:131999021A>G	ENST00000414305.1	+	12	1280	c.952A>G	c.(952-954)Acc>Gcc	p.T318A	ENPP3_ENST00000357639.3_Missense_Mutation_p.T318A|ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.T318A			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	318	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)		CAGGTTTTATACCATGTATTT	0.358000													15	7					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46977981	46977981	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:46977981C>A	ENST00000371956.4	+	4	979	c.964C>A	c.(964-966)Cag>Aag	p.Q322K	DMBX1_ENST00000360032.3_Missense_Mutation_p.Q317K	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	322					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GTCCTACTACCAGTCCCTGTC	0.687000													24	31					3.10358e-05	3.12525e-05	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133539624	133539624	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:133539624T>A	ENST00000409261.1	-	14	5133	c.4760A>T	c.(4759-4761)aAt>aTt	p.N1587I	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.N1587I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1587							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						TGTTCTCCGATTATTTTTGCT	0.418000													40	36					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806856	2806856	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:2806856C>T	ENST00000520002.1	-	69	10925	c.10370G>A	c.(10369-10371)gGa>gAa	p.G3457E	CSMD1_ENST00000602723.1_Missense_Mutation_p.G3280E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3280E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3457E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3279E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3456E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3457						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)		AAAGTCTTTTCCATGAATGTC	0.343000													9	10					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46266468	46266468	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr20:46266468C>T	ENST00000372004.3	+	13	2669	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F	NCOA3_ENST00000371997.3_Missense_Mutation_p.S828F|NCOA3_ENST00000371998.3_Missense_Mutation_p.S818F|NCOA3_ENST00000341724.6_Missense_Mutation_p.S828F	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	818					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AATTCCATATCCTCAAATGGT	0.343000													26	25					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27758960	27758960	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:27758960G>A	ENST00000295743.4	-	6	1865	c.1662C>T	c.(1660-1662)ccC>ccT	p.P554P	EOMES_ENST00000537516.1_Silent_p.P278P|EOMES_ENST00000449599.1_Silent_p.P573P			O95936	EOMES_HUMAN	eomesodermin	554					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ATGTCTGAAGGGGCAAGGATT	0.512000													34	47					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148800986	148800986	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:148800986G>A	ENST00000378061.2	-	4	2109	c.1977C>T	c.(1975-1977)gtC>gtT	p.V659V		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	659					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCCCGCTGTGGACTCGAATGT	0.537000													117	101					0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69656328	69656328	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:69656328C>T	ENST00000435070.2	+	9	1755	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C	CPSF6_ENST00000551516.1_Silent_p.I51I|CPSF6_ENST00000456847.3_Missense_Mutation_p.R476C|CPSF6_ENST00000266679.8_Missense_Mutation_p.R586C	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	549	Arg-rich.|Sufficient for nuclear targeting.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	p.R549C(2)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			gcgCGAATATCGTCATCGTTA	0.468000													16	9					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15507985	15507985	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:15507985G>A	ENST00000397410.4	-	12	1576	c.1512C>T	c.(1510-1512)acC>acT	p.T504T	AKAP8L_ENST00000595465.1_Silent_p.T443T	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	504						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGTGATCCATGGTCTTCAGAT	0.552000													47	93					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3189513	3189513	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:3189513A>G	ENST00000355072.5	+	39	5270	c.5125A>G	c.(5125-5127)Aca>Gca	p.T1709A		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1709					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AATCTCCTGTACAGTAATTAA	0.383000													30	37					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156788492	156788492	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:156788492C>T	ENST00000347377.6	+	26	3356	c.2925C>T	c.(2923-2925)ttC>ttT	p.F975F	CYFIP2_ENST00000522463.1_Silent_p.F779F|CYFIP2_ENST00000377576.3_Silent_p.F975F|CYFIP2_ENST00000435847.2_Silent_p.F674F|CYFIP2_ENST00000318218.6_Silent_p.F1000F|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000521420.1_Silent_p.F949F|CYFIP2_ENST00000541131.1_Silent_p.F900F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1000					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAGTTCTTCCACCACCAGC	0.547000													18	14					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19319186	19319186	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:19319186G>A	ENST00000461366.1	+	14	1809	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	532							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCAGGCCACGGCCAAGGCCTT	0.642000													7	22					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158592916	158592916	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:158592916C>T	ENST00000368148.3	-	43	6157	c.5977G>A	c.(5977-5979)Gac>Aac	p.D1993N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1990N|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1993					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCAGTTTGTCCTTCAGGTCA	0.517000													112	225					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234355425	234355425	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:234355425T>C	ENST00000264057.2	+	12	1414	c.1402T>C	c.(1402-1404)Ttc>Ctc	p.F468L	DGKD_ENST00000409813.3_Missense_Mutation_p.F424L	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	468					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CACCGAAGACTTCAGCGAGGA	0.587000													55	49					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112654962	112654962	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:112654962G>C	ENST00000550722.1	-	46	7069	c.6674C>G	c.(6673-6675)cCg>cGg	p.P2225R	HECTD4_ENST00000377560.5_Missense_Mutation_p.P2199R|HECTD4_ENST00000430131.2_Missense_Mutation_p.P1949R	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TCGAACAGGCGGAAACACTCG	0.532000													7	26					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44837467	44837467	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr21:44837467G>A	ENST00000270162.6	-	13	2064	c.1932C>T	c.(1930-1932)agC>agT	p.S644S		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	644					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						AGCCCTCCCGGCTGCCGGCTG	0.751000													6	11					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101053472	101053472	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:101053472G>A	ENST00000369162.2	-	33	5493	c.5149C>T	c.(5149-5151)Ctt>Ttt	p.L1717F		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1717	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGTTCATAAAGAAATTTTTTA	0.338000													18	7					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	407674	407674	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:407674C>T	ENST00000256509.2	+	15	2269	c.1627C>T	c.(1627-1629)Ccc>Tcc	p.P543S	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.P527S	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	527	Ig-like C2-type 6.				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)		TCCTCGTATCCCCAAATTGCA	0.343000													7	28					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138433971	138433971	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:138433971G>A	ENST00000310018.2	-	12	1403	c.1121C>T	c.(1120-1122)gCt>gTt	p.A374V	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A374V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A374V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	374					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTGGAAGCCAGCTGTGAATTT	0.478000													28	102					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228495135	228495135	+	Silent	SNP	G	G	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:228495135G>C	ENST00000570156.2	+	57	15314	c.15240G>C	c.(15238-15240)acG>acC	p.T5080T	OBSCN_ENST00000284548.11_Silent_p.T4123T|OBSCN_ENST00000422127.1_Silent_p.T4123T|OBSCN_ENST00000366709.4_Silent_p.T1242T|OBSCN_ENST00000366707.4_Silent_p.T1757T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4123					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGGGGCCACGCGGGAGCTGC	0.657000													8	12					0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169763260	169763260	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:169763260C>T	ENST00000375363.3	+	4	619	c.527C>T	c.(526-528)cCt>cTt	p.P176L	G6PC2_ENST00000429379.2_Intron|G6PC2_ENST00000461586.1_Intron|G6PC2_ENST00000421979.1_Intron|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	176					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						ACACATTTTCCTCATCAAGTT	0.363000													15	44					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38318096	38318096	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr22:38318096C>T	ENST00000215957.6	+	6	813	c.687C>T	c.(685-687)acC>acT	p.T229T		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	229						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GGTCGGGGACCAGGCCTGGGC	0.647000													23	51					0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57159853	57159853	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:57159853G>A	ENST00000535318.2	+	12	1370	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	CPNE2_ENST00000565951.1_3'UTR|CPNE2_ENST00000565874.1_Missense_Mutation_p.E337K|CPNE2_ENST00000537605.1_Missense_Mutation_p.E235K|CPNE2_ENST00000290776.8_Missense_Mutation_p.E337K			Q96FN4	CPNE2_HUMAN	copine II	337	VWFA.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GGGCACCAACGAATATCTGTC	0.522000													18	45					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114389001	114389001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:114389001C>T	ENST00000343508.3	-	2	194	c.24G>A	c.(22-24)tgG>tgA	p.W8*	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000297405.5_Intron	NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	47						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						GTACAGGTTTCCAGCAAAGGA	0.552000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	107					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348293	7348293	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:7348293C>T	ENST00000486284.1	+	4	1261	c.987C>T	c.(985-987)atC>atT	p.I329I	GRM7_ENST00000403881.1_Silent_p.I329I|GRM7_ENST00000389336.4_Silent_p.I329I|GRM7_ENST00000357716.4_Silent_p.I329I|GRM7_ENST00000402647.2_Silent_p.I329I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	329					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATGAAGATATCGCAGAAGGGG	0.517000													23	47					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179290935	179290935	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:179290935G>A	ENST00000356834.3	-	22	3303	c.3266C>T	c.(3265-3267)cCc>cTc	p.P1089L	TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.P230L|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P1072L|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.P248L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1089						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)			ATGCAGTTCGGGTGCTGGTGG	0.647000													37	84					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967744	81967744	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:81967744C>T	ENST00000282701.2	+	2	1489	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	390					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TGGATTATCTCCCCCAAGTCC	0.463000													50	82					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37232880	37232880	+	Silent	SNP	A	A	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:37232880A>G	ENST00000233099.5	-	30	4895	c.4800T>C	c.(4798-4800)tgT>tgC	p.C1600C	HEATR5B_ENST00000354531.2_Silent_p.C1600C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1600							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTCTAGGGGAACAAAGAAACT	0.393000													13	37					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934707	113934707	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:113934707C>T	ENST00000335953.4	+	2	1065	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	ZBTB16_ENST00000392996.2_Silent_p.L229L	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	229					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGAGCCAACTCTGGCTGGGGG	0.637000													15	31					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348705	150348705	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chrX:150348705C>T	ENST00000218316.3	+	2	719	c.650C>T	c.(649-651)gCg>gTg	p.A217V		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	217					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGTGCTGGCGGCCCGTGAC	0.527000													62	16					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47343129	47343129	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:47343129G>A	ENST00000398879.1	-	22	3242	c.2876C>T	c.(2875-2877)tCc>tTc	p.S959F	TNS3_ENST00000355730.3_Missense_Mutation_p.S719F|TNS3_ENST00000311160.9_Missense_Mutation_p.S959F			Q68CZ2	TENS3_HUMAN	tensin 3	959						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCCCAGCAGGGAAACCATGGG	0.612000													7	13					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98986517	98986517	+	Missense_Mutation	SNP	C	C	T	rs149069990		TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:98986517C>T	ENST00000393504.1	+	2	496	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	CNGA3_ENST00000436404.2_Missense_Mutation_p.R27C|CNGA3_ENST00000272602.2_Missense_Mutation_p.R27C	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	27					signal transduction|visual perception	integral to membrane	cGMP binding	p.R27C(1)		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						AGATCTCAATCGCGCTGAAAA	0.502000													9	27					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100490867	100490867	+	Silent	SNP	G	G	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:100490867G>T	ENST00000302913.4	-	2	1125	c.987C>A	c.(985-987)tcC>tcA	p.S329S	ACHE_ENST00000412389.1_Silent_p.S329S|ACHE_ENST00000241069.5_Silent_p.S329S|ACHE_ENST00000419336.2_Silent_p.S329S|ACHE_ENST00000428317.1_Silent_p.S329S|ACHE_ENST00000411582.1_Silent_p.S329S	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	329					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CAGGCACGAAGGAGAACCGGA	0.592000													18	38					6.94344e-10	7.0659e-10	1	1	0
PHKB	5257	broad.mit.edu	37	16	47730390	47730390	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:47730390C>T	ENST00000455779.1	+	30	3158	c.2973C>T	c.(2971-2973)atC>atT	p.I991I	PHKB_ENST00000323584.5_Silent_p.I998I|PHKB_ENST00000566044.1_Silent_p.I991I|PHKB_ENST00000299167.8_Silent_p.I998I			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	998					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ACAGACAGATCGTTGTAGAGG	0.423000													35	26					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346524	70346524	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:70346524C>T	ENST00000305107.6	-	6	1461	c.1415G>A	c.(1414-1416)gGa>gAa	p.G472E	UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.G336E	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	472					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						GTGCTTGGCTCCTTTATGGCG	0.483000													66	125					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555140	44555140	+	Silent	SNP	G	G	A	rs146322216		TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr18:44555140G>A	ENST00000330682.2	-	1	1309	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	358	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CCGAGTAGGGGACCCCTTCCA	0.637000													40	801					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220422584	220422584	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:220422584G>A	ENST00000404537.1	-	11	3807	c.3751C>T	c.(3751-3753)Ccc>Tcc	p.P1251S	OBSL1_ENST00000265317.5_Missense_Mutation_p.P242S|OBSL1_ENST00000603926.1_Missense_Mutation_p.P1251S|OBSL1_ENST00000373876.1_Missense_Mutation_p.P1251S|OBSL1_ENST00000265318.4_Missense_Mutation_p.P1159S	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1251	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGGGCTCCGGGGGCTGCTCCA	0.662000													43	32					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102855	22102855	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:22102855G>A	ENST00000542433.1	-	1	241	c.144C>T	c.(142-144)ctC>ctT	p.L48L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TGAGCAGAATGAGCAGGTTCC	0.512000													32	50					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115222915	115222915	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:115222915C>T	ENST00000369538.3	-	5	866	c.819G>A	c.(817-819)atG>atA	p.M273I	AMPD1_ENST00000520113.2_Missense_Mutation_p.M277I|AMPD1_ENST00000353928.6_Missense_Mutation_p.M244I	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	244					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GTAAAAAATTCATATCGTCTA	0.398000													19	48					0	0	1	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363122	22363122	+	RNA	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:22363122G>A	ENST00000390438.2	+	0	381																											TTTTGAGGCTGAATTTAAGAA	0.507000													43	69					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10673682	10673682	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:10673682C>T	ENST00000423302.2	-	2	264	c.115G>A	c.(115-117)Gag>Aag	p.E39K	MRVI1_ENST00000421747.1_Missense_Mutation_p.E30K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E39K|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000436272.1_Missense_Mutation_p.E30K|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.E30K|MRVI1_ENST00000552103.1_5'UTR	NM_001206880.1|NM_130385.3	NP_001193809.1|NP_569056.4	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	30					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CCCGGAACCTCCGCTGCGTCA	0.652000													7	22					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428975	57428975	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr20:57428975C>T	ENST00000371100.4	+	1	1207	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S	GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306120.3_Silent_p.L155L|GNAS_ENST00000371102.4_Missense_Mutation_p.P219S|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P219S|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTACAGCCCTCCCCCTGAGGA	0.647000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			5	13					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27455482	27455482	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:27455482C>T	ENST00000264705.4	+	18	2974	c.2812C>T	c.(2812-2814)Ctt>Ttt	p.L938F	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Missense_Mutation_p.L875F	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	938	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGTCCTAGTCCTTGGCTCTGG	0.512000													22	76					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43750374	43750374	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:43750374A>T	ENST00000389420.3	-	38	5555	c.5556T>A	c.(5554-5556)aaT>aaA	p.N1852K		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1852	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCCTGACAAATTAATGCTAA	0.393000													6	8					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77830494	77830494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:77830494C>T	ENST00000354212.4	-	11	2317	c.2064G>A	c.(2062-2064)tgG>tgA	p.W688*	MAGI2_ENST00000522391.1_Nonsense_Mutation_p.W688*|MAGI2_ENST00000419488.1_Nonsense_Mutation_p.W688*	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	688						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)				TTGGAGTTTTCCATGGAGAAA	0.303000													6	12					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6913720	6913720	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:6913720C>T	ENST00000312053.4	+	11	1216	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	EMR1_ENST00000381407.5_Silent_p.F252F|EMR1_ENST00000250572.8_Silent_p.F393F|EMR1_ENST00000450315.3_Silent_p.F216F|EMR1_ENST00000381404.4_Silent_p.F341F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	393	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GGACTAAATTCACCAAGGAAG	0.458000													40	61					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124297969	124297969	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:124297969C>T	ENST00000409039.3	+	19	3074	c.3049C>T	c.(3049-3051)Cct>Tct	p.P1017S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1017	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGAAACCTCCTTGTGTAGC	0.398000													29	65					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436023	72436023	+	Silent	SNP	C	C	T	rs145119311		TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:72436023C>T	ENST00000392627.1	+	2	1369	c.243C>T	c.(241-243)aaC>aaT	p.N81N	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Silent_p.N81N|GPRC5C_ENST00000392629.2_Silent_p.N48N	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	36						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AAGGCCTCAACCCCCTGTACT	0.647000													37	47					0	0	1	0	0
SLC47A2	146802	broad.mit.edu	37	17	19619821	19619821	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:19619821G>A	ENST00000350657.5	-	1	222	c.48C>T	c.(46-48)tgC>tgT	p.C16C	SLC47A2_ENST00000325411.5_Silent_p.C16C|SLC47A2_ENST00000463318.1_Intron	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	16						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					TGAGGGCAGGGCAGCAGCCCC	0.662000													9	19					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380872	124380872	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr10:124380872G>A	ENST00000338354.3	+	41	5303	c.5197G>A	c.(5197-5199)Gaa>Aaa	p.E1733K	DMBT1_ENST00000368955.3_Missense_Mutation_p.E1723K|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.E1733K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E1105K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E1105K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E1723K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1733	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.E1733K(1)|p.E1862K(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCATCACGAAGACGCTGG	0.557000													42	36					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82433875	82433875	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:82433875G>A	ENST00000370728.1	+	16	3148	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	LPHN2_ENST00000370721.1_Missense_Mutation_p.E760K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E822K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E822K|LPHN2_ENST00000335786.5_Missense_Mutation_p.E835K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E822K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E835K|LPHN2_ENST00000370727.1_Missense_Mutation_p.E835K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E835K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E822K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E822K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.E835K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E822K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E835K			O95490	LPHN2_HUMAN	latrophilin 2	835	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGCCCACAGGGAAATTGCAGT	0.428000													16	45					0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64989987	64989987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:64989987C>T	ENST00000358738.3	+	2	2156	c.1765C>T	c.(1765-1767)Cag>Tag	p.Q589*	ZBTB1_ENST00000554015.1_Nonsense_Mutation_p.Q589*|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Nonsense_Mutation_p.Q589*	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AGGATTTTATCAGCGGTGTCA	0.368000													28	38					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167270	140167270	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:140167270G>A	ENST00000504120.2	+	1	1395	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	PCDHA1_ENST00000378133.3_Silent_p.K465K|PCDHA1_ENST00000394633.3_Silent_p.K465K	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)			TATTCGTGAAGGAGAACAACC	0.667000													44	41					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215792296	215792296	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:215792296C>T	ENST00000259154.4	+	16	1925	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	544						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)		TGTGAGGGATCCAGTAGGATG	0.453000													23	45					0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215279277	215279277	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:215279277G>A	ENST00000312504.5	+	2	1162	c.360G>A	c.(358-360)ggG>ggA	p.G120G	AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Silent_p.G120G|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	120	VWFC 2.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						AATATCACGGGAAAAATTACA	0.358000													12	12					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50678773	50678773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr22:50678773C>T	ENST00000439308.2	-	2	1257	c.765G>A	c.(763-765)tgG>tgA	p.W255*	TUBGCP6_ENST00000248846.5_Nonsense_Mutation_p.W255*	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	255					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTCGTCTTCCCACTGATCCA	0.562000													16	26					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409012	56409012	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:56409012C>T	ENST00000544374.1	-	1	935	c.907G>A	c.(907-909)Gat>Aat	p.D303N	OR5AP2_ENST00000302981.1_Missense_Mutation_p.D302N			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TTTTTTACATCCTTATTTTTT	0.343000													10	16					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39596727	39596727	+	Silent	SNP	G	G	A	rs142182718	byFrequency	TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:39596727G>A	ENST00000246646.3	-	1	446	c.447C>T	c.(445-447)ccC>ccT	p.P149P		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	149	Linker 1.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				ACTGGTAGTCGGGGCACACGG	0.602000													36	79					0	0	1	0	0
DEK	7913	broad.mit.edu	37	6	18237645	18237645	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:18237645T>C	ENST00000397239.3	-	8	1312	c.865A>G	c.(865-867)Acc>Gcc	p.T289A	DEK_ENST00000244776.7_Missense_Mutation_p.T255A	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	289					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TTCTTGGTGGTGCTGCTATCT	0.303000			T	NUP214	AML								11	20					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169277	138169277	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:138169277G>A	ENST00000409968.1	+	14	2972	c.2794G>A	c.(2794-2796)Gga>Aga	p.G932R	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.G901R|THSD7B_ENST00000272643.3_Missense_Mutation_p.G932R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCAACCTTATGGAAACTGGTC	0.478000													26	99					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870822	51870822	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr20:51870822G>A	ENST00000371497.5	+	2	1712	c.825G>A	c.(823-825)ctG>ctA	p.L275L	TSHZ2_ENST00000603338.2_Silent_p.L272L|TSHZ2_ENST00000329613.6_Silent_p.L272L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	275					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAAGGTTCTGAAATGTATGT	0.438000													21	22					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38881715	38881715	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:38881715G>A	ENST00000274276.3	+	4	669	c.267G>A	c.(265-267)gtG>gtA	p.V89V	OSMR_ENST00000502536.1_Silent_p.V89V	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	89					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GCACCACTGTGAAGTGGAACC	0.433000													19	49					0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444183	15444183	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:15444183G>A	ENST00000295297.4	+	3	910	c.651G>A	c.(649-651)ctG>ctA	p.L217L	C1QTNF7_ENST00000429690.1_Silent_p.L210L|C1QTNF7_ENST00000444304.2_Silent_p.L210L	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	210	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CAATCGGACTGGTACACAATG	0.473000													38	95					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331787	107331787	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr9:107331787G>A	ENST00000335040.1	+	1	339	c.339G>A	c.(337-339)atG>atA	p.M113I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CGGAGTGCATGATCTTAGGCA	0.502000													32	16					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173942751	173942751	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:173942751G>A	ENST00000506823.1	+	12	2270	c.1613G>A	c.(1612-1614)gGg>gAg	p.G538E	GALNTL6_ENST00000508122.1_Missense_Mutation_p.G521E	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	538	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GGCATGAAGGGGAACCAGCTC	0.463000													42	79					0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899602	128899602	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:128899602G>A	ENST00000435159.2	+	2	411	c.411G>A	c.(409-411)cgG>cgA	p.R137R		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	137						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						ACATCCTGCGGGACAAAGTCT	0.502000													8	7					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9771274	9771274	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:9771274G>A	ENST00000383832.3	+	21	1750	c.1560G>A	c.(1558-1560)gaG>gaA	p.E520E		NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	520										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TGCTGGCCGAGATCCCGGAGC	0.642000													34	52					0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32878609	32878609	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr20:32878609G>A	ENST00000538132.1	-	6	996	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	AHCY_ENST00000217426.2_Silent_p.L232L	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	232					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AAACCCCGCAGGGCCTGGGCA	0.602000													45	70					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96512932	96512932	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:96512932C>T	ENST00000283109.3	-	4	454	c.386G>A	c.(385-387)aGa>aAa	p.R129K	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.R129K	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	129							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		AAACGAGGTTCTTCCTAGTCT	0.338000													11	22					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1871973	1871973	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:1871973C>T	ENST00000518288.1	+	22	2656	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	ARHGEF10_ENST00000520359.1_Silent_p.F769F|ARHGEF10_ENST00000262112.6_Silent_p.F832F|ARHGEF10_ENST00000398564.1_Silent_p.F832F|ARHGEF10_ENST00000349830.3_Silent_p.F807F			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	832					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CAGCTGTGTTCAATACGTTCA	0.502000													28	57					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32811801	32811801	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr13:32811801C>T	ENST00000380250.3	+	44	6592	c.6096C>T	c.(6094-6096)tcC>tcT	p.S2032S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2032					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGGACCCATCCCACATAAACC	0.498000													7	22					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130760960	130760960	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:130760960G>A	ENST00000276708.4	-	14	2195	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	438						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AGGGGTATCTGAAGTTTGGCT	0.532000													42	41					0	0	1	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212532071	212532071	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:212532071G>A	ENST00000261461.2	+	12	1844	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.E367K	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	424					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		AACCCTAATGGAAATGAATGG	0.348000													13	22					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138656046	138656046	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:138656046C>T	ENST00000251691.4	+	33	6229	c.6063C>T	c.(6061-6063)acC>acT	p.T2021T		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	2021					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCGACAAGACCATTTCAAAGT	0.527000													5	1					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	39910123	39910123	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr15:39910123C>T	ENST00000350221.3	-	11	1721	c.1512G>A	c.(1510-1512)atG>atA	p.M504I		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	504										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GAAGGCATTTCATATTCTCTG	0.398000													29	14					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259423	32259423	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:32259423G>A	ENST00000360482.2	-	12	2588	c.2459C>T	c.(2458-2460)gCc>gTc	p.A820V	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.A313V|SPOCD1_ENST00000533231.1_Missense_Mutation_p.A820V	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	820					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTGGCTTAGGGCTTTCTGGAA	0.582000													71	134					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176308764	176308764	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:176308764G>A	ENST00000292432.5	-	17	2413	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	774	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGGCCCCGGAAGAGAACGC	0.537000													44	84					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38638424	38638424	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:38638424G>A	ENST00000254051.6	-	8	1787	c.1629C>T	c.(1627-1629)atC>atT	p.I543I		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	543	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCAGGGCCATGATGGAATGCT	0.587000													27	33					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167129193	167129193	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:167129193C>T	ENST00000303354.6	-	17	3410	c.3070G>A	c.(3070-3072)Gag>Aag	p.E1024K	SCN9A_ENST00000375387.4_Missense_Mutation_p.E1024K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1012K|SCN9A_ENST00000409435.1_Missense_Mutation_p.E1023K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1023						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGTCTTATCTCCCTGGAAATC	0.328000													9	13					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132409815	132409815	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr5:132409815G>A	ENST00000304858.2	+	6	949	c.660G>A	c.(658-660)ctG>ctA	p.L220L		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	220					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGAAAACTGAAAGTAAGTA	0.318000													13	7					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155239594	155239594	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chrX:155239594C>T	ENST00000424344.3	+	10	1390	c.1023C>T	c.(1021-1023)ggC>ggT	p.G341G	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Silent_p.G362G|IL9R_ENST00000540897.1_3'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	362					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					TCACTTGTGGCCCAGCGCGTC	0.672000													34	40					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102587058	102587058	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:102587058C>T	ENST00000236826.3	-	6	975	c.877G>A	c.(877-879)Gga>Aga	p.G293R		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	293	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		AGTATTTCTCCACGGAGTGTG	0.388000													25	43					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187172799	187172799	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:187172799G>T	ENST00000264690.6	+	9	1214	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	KLKB1_ENST00000513864.1_Nonsense_Mutation_p.E343*	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	343	Apple 4.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTGTAAGGAAGAGAAGTAAAG	0.363000													10	32					2.17888e-05	2.19792e-05	1	1	0
ADAM20	8748	broad.mit.edu	37	14	70989510	70989510	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:70989510G>A	ENST00000256389.3	-	2	2359	c.2115C>T	c.(2113-2115)aaC>aaT	p.N705N	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	655					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CCCATTCATGGTTGCAGTGAC	0.483000													71	134					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945504	53945504	+	RNA	SNP	C	C	T	rs12983857	by1000genomes	TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:53945504C>T	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGAGGTGGCTCGTAAGTTGGT	0.483000													4	41					0	0	1	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206582	142206582	+	RNA	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:142206582C>T	ENST00000426318.2	-	0	323																											GGGGGAAATTCTCTGTCTTGG	0.527000													33	125					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30748499	30748499	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr16:30748499C>T	ENST00000262518.4	+	34	7523	c.7138C>T	c.(7138-7140)Cgg>Tgg	p.R2380W	SRCAP_ENST00000344771.4_Missense_Mutation_p.R2222W|SRCAP_ENST00000395059.2_Missense_Mutation_p.R2318W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2380					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.R2380W(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGCACCCACCGGCGCAGTAA	0.652000													32	44					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39439544	39439544	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:39439544G>A	ENST00000257408.4	+	3	1631	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	512					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						TTCTTTAAAAGAGTCCACGCC	0.398000													10	33					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622398	41622398	+	Silent	SNP	G	G	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr19:41622398G>T	ENST00000331105.2	+	3	282	c.210G>T	c.(208-210)ctG>ctT	p.L70L		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	70					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGTGCACCTGGGACCCAGGC	0.617000													40	78					2.40579e-17	2.47441e-17	1	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54871252	54871252	+	Missense_Mutation	SNP	G	G	A	rs41277453		TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:54871252G>A	ENST00000474759.1	+	15	1513	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E395K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E489K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E489K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	489	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TAAGCAGAACGAAACCGTGAG	0.517000													33	94					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95029946	95029946	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr14:95029946G>A	ENST00000557004.1	+	2	548	c.127G>A	c.(127-129)Ggt>Agt	p.G43S	SERPINA4_ENST00000555095.1_Missense_Mutation_p.G43S|SERPINA4_ENST00000298841.5_Missense_Mutation_p.G43S|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	43					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCTGGAGACAGGTGAGGGCTC	0.567000													45	53					0	0	1	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709534	31709534	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr21:31709534G>A	ENST00000382835.2	-	1	478	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	151						intermediate filament		p.F151F(2)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CCAGAGTTTCGAAATTTTTAG	0.493000													64	98					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505203	195505203	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:195505203G>A	ENST00000463781.3	-	3	13373	c.12914C>T	c.(12913-12915)gCt>gTt	p.A4305V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Missense_Mutation_p.A69V|MUC4_ENST00000475231.1_Missense_Mutation_p.A4305V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1062					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATGGGGGCAGCTGTGGAGCG	0.597000													31	42					0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109229661	109229661	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:109229661G>A	ENST00000220849.5	-	8	813	c.751C>T	c.(751-753)Cca>Tca	p.P251S	EIF3E_ENST00000519030.1_Missense_Mutation_p.P158S|EIF3E_ENST00000519517.1_5'UTR	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	251					negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AGAATGTGTGGACACATTGTC	0.343000													4	11					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98928328	98928328	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:98928328A>T	ENST00000477737.1	+	27	3772	c.3568A>T	c.(3568-3570)Aaa>Taa	p.K1190*	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1190										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGGCCACTGAAAGAAGCGGA	0.592000													7	10					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237758892	237758892	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr1:237758892G>A	ENST00000366574.2	+	34	4848	c.4531G>A	c.(4531-4533)Gtg>Atg	p.V1511M	RYR2_ENST00000542537.1_Missense_Mutation_p.V1495M|RYR2_ENST00000360064.6_Missense_Mutation_p.V1509M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1511	4 X approximate repeats.|B30.2/SPRY 3.				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)			TGGCTGTGTGGTGGATGCTGC	0.517000													18	34					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32956214	32956214	+	Silent	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:32956214C>T	ENST00000321639.5	+	5	1387	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	353						integral to membrane		p.P353P(1)		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)		CCATCCTGCCCCTGGCCATGG	0.577000													14	34					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10322317	10322317	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:10322317G>A	ENST00000403437.2	-	4	335	c.241C>T	c.(241-243)Cct>Tct	p.P81S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	81	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGGTTCATAGGGAAGACTTGG	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				34	50					0	0	1	0	0
CYP26C1	340665	broad.mit.edu	37	10	94828174	94828174	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr10:94828174C>T	ENST00000285949.5	+	6	1289	c.1289C>T	c.(1288-1290)cCa>cTa	p.P430L		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	430					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GGCTTCGATCCAGAGCGCTTC	0.682000													21	15					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76903013	76903013	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:76903013G>A	ENST00000285871.4	+	10	1303	c.1176G>A	c.(1174-1176)atG>atA	p.M392I	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000415740.2_Intron	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	392										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATTTCCAGATGGAAGCTATCC	0.408000													18	33					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139635980	139635980	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:139635980C>G	ENST00000303045.6	-	52	4212	c.3766G>C	c.(3766-3768)Gag>Cag	p.E1256Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.E1236Q|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1256	Collagen-like 12.|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)			TTTACCGGCTCTCCAGGGGGA	0.443000										HNSCC(7;0.00092)			68	212					0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102195542	102195542	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr11:102195542C>T	ENST00000263464.3	+	2	3052	c.302C>T	c.(301-303)tCc>tTc	p.S101F	BIRC3_ENST00000532808.1_Missense_Mutation_p.S101F	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	101					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AGTCTAAATTCCGTTAACAAC	0.413000			T	MALT1	MALT								34	82					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76789152	76789152	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr10:76789152G>A	ENST00000287239.4	+	18	5059	c.4570G>A	c.(4570-4572)Gat>Aat	p.D1524N	KAT6B_ENST00000372725.1_Missense_Mutation_p.D1232N|KAT6B_ENST00000372711.1_Missense_Mutation_p.D1341N|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1232N|KAT6B_ENST00000372724.1_Missense_Mutation_p.D1232N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1524					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CAAGGAAGTCGATACAGAGTT	0.552000													33	19					0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2275003	2275003	+	Silent	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:2275003G>A	ENST00000242257.8	-	3	523	c.495C>T	c.(493-495)ctC>ctT	p.L165L	FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Silent_p.L71L	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	165					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		TGTCATGATCGAGGTCCCGGA	0.577000													21	45					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177069291	177069291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr4:177069291C>T	ENST00000393643.2	+	13	1954	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	WDR17_ENST00000280190.4_Nonsense_Mutation_p.R592*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.R568*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.R575*	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	592										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGTACCGTTCGAATCTGGGA	0.323000													21	31					0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233274325	233274325	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr2:233274325G>A	ENST00000295453.3	+	11	1394	c.1342G>A	c.(1342-1344)Gga>Aga	p.G448R		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	448					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCCCCTGGACGGAGAGACCCA	0.637000													34	23					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701310	195701311	+	RNA	INS	-	-	AA			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr3:195701310_195701311insAA	ENST00000427841.1	-	0	1513_1514					NR_003264.2																						CATGCCTGACCAGACAACCAGG	0.574													7	61	---	---	---	---					
TULP1	7287	broad.mit.edu	37	6	35478775	35478777	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr6:35478775_35478777delTCC	ENST00000229771.6	-	5	439_441	c.360_362delGGA	c.(358-363)gaa>ga	p.EE122del	TULP1_ENST00000322263.4_In_Frame_Del_p.EE69del	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	122	Poly-Glu.		Missing (in RP14).		dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						gtcctcctcttcctcctcctcct	0.567													7	152	---	---	---	---					
RELN	5649	broad.mit.edu	37	7	103205777	103205777	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr7:103205777delC	ENST00000428762.1	-	34	5317	c.5158delG	c.(5158-5160)aafs	p.E1720fs	RELN_ENST00000424685.2_Frame_Shift_Del_p.E1720fs|RELN_ENST00000343529.5_Frame_Shift_Del_p.E1720fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1720					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)		TGGAATCTTTCCGAGGTGTAA	0.468													19	46	---	---	---	---					
ZC3H3	23144	broad.mit.edu	37	8	144522386	144522387	+	In_Frame_Ins	INS	-	-	GAG	rs35759992	byFrequency	TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr8:144522386_144522387insGAG	ENST00000262577.5	-	11	2670_2671	c.2639_2640insCTC	c.(2638-2640)ttc>tCTCtc	p.880_880F>SL		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	880	Poly-Ser.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CGggaggggatgaggaggagga	0.649													7	24	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132445250	132445251	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr12:132445250_132445251insG	ENST00000333577.4	+	2	195_196	c.86_87insG	c.(85-87)cgcfs	p.R29fs	EP400_ENST00000389562.2_Frame_Shift_Ins_p.R29fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.R29fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.R29fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.R29fs			Q96L91	EP400_HUMAN	E1A binding protein p400	29					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGGAGCAGCCGGCCCACCCCA	0.653													2	4	---	---	---	---					
SLC35B1	10237	broad.mit.edu	37	17	47782504	47782506	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr17:47782504_47782506delGCC	ENST00000240333.6	-	5	629_631	c.508_510delGGC	c.(508-510)del	p.G170del	SLC35B1_ENST00000415270.2_In_Frame_Del_p.G207del			P78383	S35B1_HUMAN	solute carrier family 35, member B1	170						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						GCTCTCCATAGCCGACTGTGTGT	0.493													24	76	---	---	---	---					
NRIP1	8204	broad.mit.edu	37	21	16337660	16337660	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EB-A3XF-01A-31D-A23B-08	TCGA-EB-A3XF-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44f65d92-3e20-4028-8695-9bb3bdbe5a89	9635878b-a30e-4308-844c-57a521d8b766	g.chr21:16337660delG	ENST00000400202.1	-	3	3566	c.2854delC	c.(2854-2856)acfs	p.H952fs	NRIP1_ENST00000400199.1_Frame_Shift_Del_p.H952fs|NRIP1_ENST00000318948.4_Frame_Shift_Del_p.H952fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	952					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTACTTCTGTGCGGGGACAAA	0.418													27	65	---	---	---	---					
