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
CDKL5	6792	broad.mit.edu	37	X	18622843	18622843	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:18622843G>C	ENST00000379989.3	+	13	2084	c.1799G>C	c.(1798-1800)aGc>aCc	p.S600T	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.S600T	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	600					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GGCTACACCAGCCCCTTTTCT	0.507000													60	203					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94938670	94938670	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr13:94938670A>G	ENST00000377047.4	+	5	1560	c.945A>G	c.(943-945)atA>atG	p.I315M		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	315						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGGACCCGATAGATGTCAAGA	0.413000													14	32					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616869	77616869	+	Silent	SNP	T	T	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr8:77616869T>A	ENST00000521891.2	+	2	994	c.546T>A	c.(544-546)tcT>tcA	p.S182S	ZFHX4_ENST00000455469.2_Silent_p.S182S|ZFHX4_ENST00000050961.6_Silent_p.S182S|ZFHX4_ENST00000518282.1_Silent_p.S182S|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTCTGCTTCTGCACCTATGT	0.488000										HNSCC(33;0.089)			10	20					0	0	1	0	0
SAMD13	148418	broad.mit.edu	37	1	84791349	84791349	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:84791349C>A	ENST00000370673.3	+	3	317	c.125C>A	c.(124-126)cCt>cAt	p.P42H	SAMD13_ENST00000370669.1_Missense_Mutation_p.P28H|SAMD13_ENST00000370671.3_Missense_Mutation_p.P48H|SAMD13_ENST00000370670.2_Missense_Mutation_p.P28H|SAMD13_ENST00000394834.3_Missense_Mutation_p.P28H|SAMD13_ENST00000370668.3_Missense_Mutation_p.P28H	NM_001010971.2	NP_001010971.1	Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	48										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CCACCTGATCCTGCAGACTGG	0.502000													20	66					1.55795e-14	2.23531e-14	1	1	0
USP36	57602	broad.mit.edu	37	17	76810548	76810548	+	Silent	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr17:76810548G>A	ENST00000312010.6	-	11	1434	c.1110C>T	c.(1108-1110)gtC>gtT	p.V370V	USP36_ENST00000449938.2_Silent_p.V70V|USP36_ENST00000542802.2_Silent_p.V370V|USP36_ENST00000588467.1_5'UTR	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	370					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AGTGCACCAGGACAGCATAGA	0.507000													7	33					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527619	23527619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr5:23527619G>T	ENST00000296682.3	+	11	2604	c.2422G>T	c.(2422-2424)Gag>Tag	p.E808*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	808					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGTCTGCAGGGAGTGTGGGCG	0.582000										HNSCC(3;0.000094)			59	153					3.37043e-27	5.33267e-27	1	1	0
FAIM2	23017	broad.mit.edu	37	12	50284472	50284472	+	Silent	SNP	G	G	T	rs149875639	byFrequency	TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr12:50284472G>T	ENST00000320634.3	-	7	613	c.519C>A	c.(517-519)acC>acA	p.T173T	FAIM2_ENST00000550890.1_Silent_p.T127T	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	173					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane		p.T173T(1)		endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TTACAAAGACGGTCAGGAGAA	0.592000													24	49					3.73808e-20	5.64377e-20	1	1	0
BTRC	8945	broad.mit.edu	37	10	103190180	103190180	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr10:103190180C>T	ENST00000370187.3	+	2	245	c.127C>T	c.(127-129)Cca>Tca	p.P43S	BTRC_ENST00000408038.2_Intron|BTRC_ENST00000393441.4_Missense_Mutation_p.P28S	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	43					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCTGTATAACCCAGGGACTGG	0.537000													20	47					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959951	53959951	+	RNA	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:53959951G>T	ENST00000454407.1	+	0	2643							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)		TTAGTCAGAAGTCAAACCTTA	0.398000													51	140					6.4308e-24	9.9699e-24	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20588475	20588475	+	RNA	SNP	C	C	T	rs142491679	by1000genomes	TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr15:20588475C>T	ENST00000428453.1	-	0	4275																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GTGCAGTGTCCCCAGGACACC	0.488000													6	29					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136339163	136339163	+	Silent	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr9:136339163G>A	ENST00000371899.4	-	7	1052	c.975C>T	c.(973-975)tcC>tcT	p.S325S	SLC2A6_ENST00000371897.4_Silent_p.S325S|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	325						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGATCAGCACGGACAGGAGCC	0.687000													9	32					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25444427	25444427	+	RNA	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr15:25444427G>T	ENST00000424208.1	+	0	1700				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CCTGGAGGAAGACTTGCATTG	0.582000													3	28					0.115264	0.117295	1	1	0
PLB1	151056	broad.mit.edu	37	2	28828782	28828782	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:28828782C>G	ENST00000422425.2	+	41	3035	c.2991C>G	c.(2989-2991)caC>caG	p.H997Q	PLB1_ENST00000327757.5_Missense_Mutation_p.H1008Q|PLB1_ENST00000541605.1_Intron	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1008	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGAAATTCCACTCCCAGCTGG	0.517000													36	172					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64718894	64718894	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:64718894G>A	ENST00000338957.4	+	3	831	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R244Q	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	244							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATATTCTACGAAAACTGGAG	0.383000													14	139					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030896	79030896	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr5:79030896A>T	ENST00000446378.2	+	2	6339	c.6308A>T	c.(6307-6309)gAa>gTa	p.E2103V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2103						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)		AAGCCATTGGAAGAATCAAAA	0.438000													20	43					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537619	24537619	+	Silent	SNP	A	A	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr5:24537619A>T	ENST00000264463.4	-	3	903	c.396T>A	c.(394-396)atT>atA	p.I132I		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	132	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTCTTCTGTTAATAGCTTGTG	0.388000										HNSCC(23;0.051)			39	107					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													6	75					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25444661	25444661	+	RNA	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr15:25444661G>C	ENST00000424208.1	+	0	1811				SNORD115-16_ENST00000363887.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TGCTCAATAGGATTACGCTGA	0.483000													48	398					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126153081	126153081	+	Silent	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:126153081C>T	ENST00000393425.1	+	15	1587	c.1488C>T	c.(1486-1488)acC>acT	p.T496T	CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000352312.1_Silent_p.T495T|CCDC37_ENST00000505024.1_Silent_p.T496T			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	495										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GCACCGGCACCCAGCAGGAGG	0.612000													12	40					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67727173	67727173	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr18:67727173C>T	ENST00000255674.6	-	36	5139	c.4853G>A	c.(4852-4854)tGc>tAc	p.C1618Y	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1618							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAAGAGGCTGCACATTGCTGA	0.458000													17	40					0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108902654	108902654	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:108902654C>A	ENST00000340800.2	-	16	2411	c.1907G>T	c.(1906-1908)tGg>tTg	p.W636L	ACSL4_ENST00000348502.6_Missense_Mutation_p.W595L|ACSL4_ENST00000469796.2_Missense_Mutation_p.W636L	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	636					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GATATCAACCCAAGTTCCTTC	0.388000													18	98					1.33834e-09	1.73683e-09	1	1	0
WWP1	11059	broad.mit.edu	37	8	87423799	87423799	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr8:87423799G>T	ENST00000517970.1	+	9	1064	c.757G>T	c.(757-759)Gat>Tat	p.D253Y	WWP1_ENST00000341922.2_Missense_Mutation_p.D123Y|WWP1_ENST00000349423.2_Missense_Mutation_p.D35Y|WWP1_ENST00000265428.4_Missense_Mutation_p.D253Y	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	253					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGCACCAACTGATAATGCGTC	0.363000													8	48					0.0477658	0.0490395	1	1	0
C3	718	broad.mit.edu	37	19	6707215	6707215	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:6707215G>A	ENST00000245907.6	-	17	2209	c.2117C>T	c.(2116-2118)tCg>tTg	p.S706L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	706	Anaphylatoxin-like.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCGCTGGCACGAGAACCTCAT	0.652000													9	34					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25446536	25446536	+	RNA	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr15:25446536G>T	ENST00000424208.1	+	0	1988				SNORD115-17_ENST00000364612.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TTCTCAAAAGGATTATGCTGA	0.498000													31	281					1.08312e-15	1.58355e-15	1	1	0
TTN	7273	broad.mit.edu	37	2	179544365	179544365	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:179544365C>T	ENST00000589042.1	-	141	33849	c.33625G>A	c.(33625-33627)Gtt>Att	p.V11209I	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V9965I|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V10892I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10892	Glu-rich.|Pro-rich.						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)			GGAACAGGAACAGGTTTCTTC	0.398000													4	21					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363955	79363955	+	RNA	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:79363955C>A	ENST00000444841.1	-	0	383																											CATTGCTATCCTTGGTGCCAC	0.527000													8	34					0.00307968	0.00330886	1	1	0
ARMCX3	51566	broad.mit.edu	37	X	100880026	100880026	+	Silent	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:100880026C>T	ENST00000341189.4	+	5	923	c.57C>T	c.(55-57)ggC>ggT	p.G19G	ARMCX3_ENST00000537169.1_Silent_p.G19G|ARMCX3_ENST00000471229.2_Silent_p.G19G	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	19						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TTGGGGCTGGCGCCTGCTATT	0.532000													24	62					0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177681	89177681	+	Silent	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:89177681C>A	ENST00000561129.2	+	1	727	c.597C>A	c.(595-597)tcC>tcA	p.S199S	TGIF2LX_ENST00000283891.5_Silent_p.S199S			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CTGTCACATCCCCGTCTTCTC	0.562000													11	43					0.010729	0.0113169	1	1	0
DOCK3	1795	broad.mit.edu	37	3	51352506	51352506	+	Missense_Mutation	SNP	A	A	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:51352506A>C	ENST00000266037.9	+	32	3372	c.3349A>C	c.(3349-3351)Atc>Ctc	p.I1117L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1117						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CATGATTCCCATCTTTCATGA	0.458000													6	37					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087447	9087447	+	Silent	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:9087447G>A	ENST00000397910.4	-	1	4571	c.4368C>T	c.(4366-4368)ccC>ccT	p.P1456P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1456	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						ATGTTGCCATGGGGAGAGTGA	0.488000													37	63					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146818172	146818172	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr7:146818172C>T	ENST00000361727.3	+	6	1372	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	286	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCGCCAGGGGCGGAGCATTAA	0.522000										HNSCC(39;0.1)			10	48					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45537832	45537832	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:45537832A>G	ENST00000415258.1	+	13	1730	c.1589A>G	c.(1588-1590)tAc>tGc	p.Y530C	LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.Y530C|LARS2_ENST00000414984.1_Missense_Mutation_p.Y487C			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	530					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GCTTGGTACTACTTCAGATAC	0.438000													29	147					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811370	23811370	+	Silent	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr15:23811370G>A	ENST00000314520.3	+	1	917	c.441G>A	c.(439-441)gcG>gcA	p.A147A	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	147						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCACGGCTGCGCACATCGAGC	0.637000													8	44					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680741	128680741	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr11:128680741C>T	ENST00000344954.6	+	9	1506	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	FLI1_ENST00000429175.2_Missense_Mutation_p.S406F|FLI1_ENST00000525560.1_Missense_Mutation_p.S213F|FLI1_ENST00000534087.1_Missense_Mutation_p.S373F|FLI1_ENST00000281428.8_Missense_Mutation_p.S340F			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	406					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CCCCATCCATCCTCCATGCCT	0.577000			T	EWSR1	Ewing sarcoma								12	49					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378085	31378085	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr7:31378085G>T	ENST00000297142.3	-	2	1120	c.798C>A	c.(796-798)aaC>aaA	p.N266K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	266					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TCCCATTATAGTTAATTGGGG	0.453000													7	47					0.00198382	0.00215146	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73434882	73434882	+	Missense_Mutation	SNP	T	T	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:73434882T>A	ENST00000263666.4	-	9	1687	c.1573A>T	c.(1573-1575)Atg>Ttg	p.M525L	PDZRN3_ENST00000466780.1_Missense_Mutation_p.M182L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.M182L|PDZRN3_ENST00000479530.1_Missense_Mutation_p.M242L|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.M247L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	525							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGCATGTCCATGTGCAGGTCA	0.562000													16	44					0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155160867	155160867	+	Silent	SNP	A	A	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:155160867A>G	ENST00000368395.1	-	3	731	c.660T>C	c.(658-660)gaT>gaC	p.D220D	MUC1_ENST00000337604.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368398.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1000	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTAGGAGTATCAGAGTGGT	0.562000			T	IGH@	B-NHL								8	31					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149520530	149520530	+	RNA	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr7:149520530C>A	ENST00000378016.2	+	0	13348							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)			TCAGCTCTGCCAGGACCTGCC	0.642000													22	77					3.62473e-10	4.78465e-10	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10610589	10610589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:10610589C>A	ENST00000171111.5	-	2	668	c.121G>T	c.(121-123)Gag>Tag	p.E41*	KEAP1_ENST00000393623.2_Nonsense_Mutation_p.E41*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GGCGTCACCTCCGCCTTGCAC	0.647000													33	64					4.31634e-10	5.66519e-10	1	1	0
OSBP2	23762	broad.mit.edu	37	22	31284263	31284263	+	Missense_Mutation	SNP	T	T	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr22:31284263T>C	ENST00000332585.6	+	5	1458	c.1354T>C	c.(1354-1356)Tac>Cac	p.Y452H	OSBP2_ENST00000403222.3_Missense_Mutation_p.Y287H|OSBP2_ENST00000382310.3_Missense_Mutation_p.Y452H|OSBP2_ENST00000437268.2_Missense_Mutation_p.Y194H|OSBP2_ENST00000401475.1_Missense_Mutation_p.Y86H|OSBP2_ENST00000535268.1_5'UTR|OSBP2_ENST00000446658.2_Missense_Mutation_p.Y452H|OSBP2_ENST00000407373.1_Missense_Mutation_p.Y279H	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	452					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGATACCGAGTACTTTGATGC	0.517000													10	69					0	0	1	0	0
FAM86HP	729375	broad.mit.edu	37	3	129821769	129821769	+	RNA	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:129821769C>T	ENST00000500074.2	-	0	389																											ACGGTGAAAGCTTCAGGTTAC	0.572000													3	34					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275771	54275771	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:54275771C>A	ENST00000354646.2	-	17	3448	c.3010G>T	c.(3010-3012)Gtg>Ttg	p.V1004L	WNK3_ENST00000375169.3_Missense_Mutation_p.V1004L|WNK3_ENST00000375159.2_Missense_Mutation_p.V1004L	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1004					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CATGGATACACAGGTATGAAT	0.458000													12	56					5.16669e-11	7.02061e-11	1	1	0
DPP10	57628	broad.mit.edu	37	2	116503718	116503718	+	Silent	SNP	T	T	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:116503718T>A	ENST00000410059.1	+	10	1389	c.909T>A	c.(907-909)acT>acA	p.T303T	DPP10_ENST00000393147.2_Silent_p.T307T|DPP10_ENST00000310323.8_Silent_p.T296T|DPP10_ENST00000409163.1_Silent_p.T253T	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	303					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATGGACCAACTCACACTTTGG	0.343000													15	31					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52537879	52537879	+	Missense_Mutation	SNP	G	G	T	rs140679923		TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:52537879G>T	ENST00000321725.6	+	9	1059	c.983G>T	c.(982-984)cGg>cTg	p.R328L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	328					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCTGCGACCGGTCTGCCACT	0.662000													8	41					0.00307968	0.00330886	1	1	0
IFIH1	64135	broad.mit.edu	37	2	163128776	163128776	+	Missense_Mutation	SNP	T	T	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:163128776T>A	ENST00000263642.2	-	13	2971	c.2576A>T	c.(2575-2577)cAt>cTt	p.H859L		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	859	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTGAACACAATGTATAGCTTT	0.398000													3	16					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30723215	30723215	+	Silent	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr4:30723215C>T	ENST00000361762.2	+	1	1179	c.171C>T	c.(169-171)atC>atT	p.I57I	PCDH7_ENST00000543491.1_Silent_p.I57I	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	57	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ACCTGGGCATCGTGACCGGAT	0.677000													4	59					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9905467	9905467	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:9905467G>T	ENST00000380913.3	+	7	3971	c.3881G>T	c.(3880-3882)cGc>cTc	p.R1294L	SHROOM2_ENST00000418909.2_Missense_Mutation_p.R129L	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1294					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GAGAAAGACCGCTGCACCTCC	0.657000													6	19					3.59834e-05	4.11493e-05	1	1	0
ABCF1	23	broad.mit.edu	37	6	30550878	30550878	+	Silent	SNP	A	A	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr6:30550878A>T	ENST00000326195.8	+	10	940	c.828A>T	c.(826-828)gcA>gcT	p.A276A	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.A238A	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	276					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CATTAAAAGCAGCCAATGCAG	0.473000													9	80					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46281737	46281737	+	Missense_Mutation	SNP	T	T	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr20:46281737T>A	ENST00000372004.3	+	22	4388	c.4172T>A	c.(4171-4173)aTg>aAg	p.M1391K	NCOA3_ENST00000371997.3_Missense_Mutation_p.M1386K|NCOA3_ENST00000371998.3_Missense_Mutation_p.M1395K|NCOA3_ENST00000341724.6_Missense_Mutation_p.M1321K	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	1395					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						ATGGTGCACATGAATGGCAGC	0.493000													23	132					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48840357	48840357	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr8:48840357C>A	ENST00000314191.2	-	20	2289	c.2233G>T	c.(2233-2235)Gtt>Ttt	p.V745F	PRKDC_ENST00000338368.3_Missense_Mutation_p.V745F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	745					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAGGCTCTAACATCGAGTTCA	0.458000								Non-homologous end-joining					7	16					1.12685e-05	1.31466e-05	1	1	0
PRSS55	203074	broad.mit.edu	37	8	10383152	10383152	+	Silent	SNP	T	T	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr8:10383152T>G	ENST00000328655.3	+	1	97	c.57T>G	c.(55-57)ggT>ggG	p.G19G	PRSS55_ENST00000522210.1_Silent_p.G19G|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	19					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CTCAGCTCGGTCCACGGACTC	0.677000													13	42					0	0	1	0	0
MAD2L1	4085	broad.mit.edu	37	4	120981346	120981346	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr4:120981346C>A	ENST00000296509.5	-	5	884	c.545G>T	c.(544-546)cGc>cTc	p.R182L		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	182	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TGAACGAAGGCGGACTTCCTC	0.383000													7	57					0.0293803	0.0304343	1	1	0
MRPS26	64949	broad.mit.edu	37	20	3027121	3027121	+	Silent	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr20:3027121G>T	ENST00000380325.3	+	2	439	c.315G>T	c.(313-315)ctG>ctT	p.L105L		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	105					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						ACCGCGAGCTGATGGCCTGGA	0.746000													10	12					0.000978159	0.00107597	1	1	0
DDR2	4921	broad.mit.edu	37	1	162725556	162725556	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:162725556A>T	ENST00000367922.2	+	8	1106	c.668A>T	c.(667-669)tAc>tTc	p.Y223F	DDR2_ENST00000367921.3_Missense_Mutation_p.Y223F	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	223					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCTGTTGGATACAGGTAAATC	0.398000													7	67					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132649	91132649	+	Silent	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:91132649C>T	ENST00000373094.1	+	2	2255	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	PCDH11X_ENST00000373097.1_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000395337.2_Silent_p.F470F|PCDH11X_ENST00000504220.1_Silent_p.F470F|PCDH11X_ENST00000406881.1_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F|PCDH11X_ENST00000298274.8_Silent_p.F470F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	470	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCAGTCTTTCGTAACTGTTT	0.433000													14	79					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25446513	25446513	+	RNA	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr15:25446513G>A	ENST00000424208.1	+	0	1988				SNORD115-17_ENST00000364612.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GAGAGGTGATGACTTAAAAAT	0.507000													39	345					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64066887	64066887	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr11:64066887G>T	ENST00000539216.1	+	6	1231	c.871G>T	c.(871-873)Ggg>Tgg	p.G291W	KCNK4_ENST00000394525.2_Missense_Mutation_p.G291W|KCNK4_ENST00000538767.1_Missense_Mutation_p.R175L|KCNK4_ENST00000422670.2_Missense_Mutation_p.G291W|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	291						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CCAGCGAgccgggcccgccgc	0.741000													5	16					0.000602214	0.000668805	1	1	0
SGCA	6442	broad.mit.edu	37	17	48252755	48252755	+	Missense_Mutation	SNP	G	G	T	rs150524482		TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr17:48252755G>T	ENST00000262018.3	+	9	1157	c.1121G>T	c.(1120-1122)cGc>cTc	p.R374L	SGCA_ENST00000543315.1_Missense_Mutation_p.R250L|SGCA_ENST00000513942.1_3'UTR|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000344627.6_Missense_Mutation_p.R250L	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	374					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTGCCTCCCCGCGTGGACAGC	0.642000													3	24					0.00909568	0.00963808	1	1	0
CDH15	1013	broad.mit.edu	37	16	89261326	89261326	+	Silent	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr16:89261326C>T	ENST00000289746.2	+	14	2273	c.2208C>T	c.(2206-2208)atC>atT	p.I736I		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	736					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CAGCCCTCATCTATGACTACG	0.617000													10	7					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70608847	70608847	+	Silent	SNP	A	A	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr6:70608847A>T	ENST00000322773.4	+	3	201	c.99A>T	c.(97-99)tcA>tcT	p.S33S		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	33					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TAGAAGAGTCATGCCCTATCC	0.299000													5	26					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123716130	123716130	+	Silent	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr9:123716130C>T	ENST00000223642.1	-	40	4808	c.4779G>A	c.(4777-4779)gaG>gaA	p.E1593E		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1593	NTR.				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CAGAGTCTTTCTCAGCAACAG	0.393000													11	69					0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158353251	158353251	+	Missense_Mutation	SNP	T	T	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr6:158353251T>C	ENST00000392185.3	+	13	1484	c.1313T>C	c.(1312-1314)aTa>aCa	p.I438T		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	438	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TATCAGAAGATAGGAAAGGCC	0.408000													11	20					0	0	1	0	0
SLC25A34	284723	broad.mit.edu	37	1	16065764	16065764	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:16065764C>T	ENST00000294454.5	+	5	859	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	SLC25A34_ENST00000489568.1_3'UTR	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	260					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGATCTGGCGGCAGGAGGG	0.662000													11	89					0	0	1	0	0
CD34	947	broad.mit.edu	37	1	208062055	208062055	+	Missense_Mutation	SNP	C	C	A	rs146829371		TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:208062055C>A	ENST00000356522.4	-	7	1265	c.944G>T	c.(943-945)cGc>cTc	p.R315L	CD34_ENST00000537704.1_Missense_Mutation_p.R180L|CD34_ENST00000367036.3_Missense_Mutation_p.R157L|CD34_ENST00000310833.7_Missense_Mutation_p.R315L|CD34_ENST00000485761.1_5'UTR	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	315					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GCTCCAGCTGCGGCGATTCAT	0.557000													185	325					1.61313e-85	2.64278e-85	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112575	248112575	+	Missense_Mutation	SNP	T	T	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:248112575T>A	ENST00000357191.3	+	1	416	c.416T>A	c.(415-417)gTg>gAg	p.V139E	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGCAAAAGAGTGTGTGTGCTG	0.453000													28	198					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363080	21363080	+	RNA	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr22:21363080C>T	ENST00000452284.1	+	0	747				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						TAAATCCAATCGGACACCAGT	0.532000													5	41					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149520328	149520328	+	Missense_Mutation	SNP	T	T	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:149520328T>G	ENST00000258484.6	+	6	939	c.905T>G	c.(904-906)cTt>cGt	p.L302R		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	302					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		CCAGCAACTCTTCATAATGGA	0.353000													10	20					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56544053	56544053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:56544053C>T	ENST00000390649.3	+	8	2353	c.2353C>T	c.(2353-2355)Cag>Tag	p.Q785*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	785						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)		ACACCTGCGGCAGCTGGACCT	0.572000													33	84					0	0	1	0	0
GPR25	2848	broad.mit.edu	37	1	200843050	200843050	+	Silent	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:200843050G>C	ENST00000304244.2	+	1	968	c.885G>C	c.(883-885)ctG>ctC	p.L295L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	295						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CCACCTGCCTGGCCTTCGTCA	0.746000													31	51					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38854576	38854576	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr6:38854576G>C	ENST00000359357.3	+	55	7872	c.7618G>C	c.(7618-7620)Gag>Cag	p.E2540Q	DNAH8_ENST00000449981.2_Missense_Mutation_p.E2757Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.E2504Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATAACTAATGAGATTGTGCG	0.348000													9	50					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651522	15651522	+	Silent	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:15651522G>T	ENST00000269703.2	+	8	1132	c.933G>T	c.(931-933)ctG>ctT	p.L311L	CYP4F22_ENST00000601005.2_Silent_p.L311L	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	311						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TGCTGCTCCTGGCCAGGGTGA	0.597000													8	54					1.76689e-08	2.19437e-08	1	1	0
KIFAP3	22920	broad.mit.edu	37	1	169953739	169953739	+	Silent	SNP	T	T	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:169953739T>A	ENST00000367765.1	-	12	2758	c.1257A>T	c.(1255-1257)gtA>gtT	p.V419V	KIFAP3_ENST00000361580.2_Silent_p.V459V|KIFAP3_ENST00000367767.1_Silent_p.V415V|KIFAP3_ENST00000540905.1_Silent_p.V161V|KIFAP3_ENST00000538366.1_Silent_p.V381V	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	459					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGATAAGCTGTACATTTCTTT	0.328000													25	47					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188254	121188254	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr5:121188254A>G	ENST00000321339.1	+	1	605	c.596A>G	c.(595-597)aAt>aGt	p.N199S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	199	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TACTACCTGAATGAGCAGGTG	0.502000													29	187					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087428	92087428	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr11:92087428C>T	ENST00000298047.6	+	1	2167	c.2150C>T	c.(2149-2151)tCa>tTa	p.S717L	FAT3_ENST00000409404.2_Missense_Mutation_p.S717L|FAT3_ENST00000525166.1_Missense_Mutation_p.S567L|FAT3_ENST00000541502.1_Missense_Mutation_p.S717L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	717					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACTTTTATTCAATTAATAGA	0.398000										TCGA Ovarian(4;0.039)			22	137					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530753	84530753	+	RNA	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr9:84530753C>T	ENST00000527857.1	+	0	775					NR_026851.1																						CTTTTCCCACCGCATCACATT	0.527000													29	187					0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82763390	82763390	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:82763390G>T	ENST00000373200.2	+	1	122	c.58G>T	c.(58-60)Gcg>Tcg	p.A20S	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	20					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.A20T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CCTAGTCCATGCGGACTCTGC	0.552000													7	26					0.0293803	0.0304343	1	1	0
IRS2	8660	broad.mit.edu	37	13	110437640	110437640	+	Missense_Mutation	SNP	A	A	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr13:110437640A>C	ENST00000375856.3	-	1	1275	c.761T>G	c.(760-762)tTc>tGc	p.F254C		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	254	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GATGAAGAAGAAGCTGTCCGA	0.657000													3	15					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48808757	48808757	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:48808757A>T	ENST00000309835.3	+	1	995	c.985A>T	c.(985-987)Agg>Tgg	p.R329W	STON1_ENST00000404752.1_Missense_Mutation_p.R329W|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R329W|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R329W|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.R329W|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R329W|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R329W|STON1_ENST00000406226.1_Missense_Mutation_p.R329W					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCCATATTGTAGGCTTTCTGA	0.363000													30	100					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25444638	25444638	+	RNA	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr15:25444638G>A	ENST00000424208.1	+	0	1811				SNORD115-16_ENST00000363887.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GAGAGGTGATGACTTAAAAAT	0.502000													57	399					0	0	1	0	0
IGLON5	402665	broad.mit.edu	37	19	51831941	51831941	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:51831941G>C	ENST00000270642.8	+	8	939	c.939G>C	c.(937-939)gaG>gaC	p.E313D		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	313						extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						GATCCCTGGAGAACTCAGCCC	0.667000													5	11					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51613098	51613098	+	Missense_Mutation	SNP	T	T	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr6:51613098T>A	ENST00000371117.3	-	58	9591	c.9316A>T	c.(9316-9318)Atc>Ttc	p.I3106F	PKHD1_ENST00000340994.4_Missense_Mutation_p.I3106F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3106					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGCCTCGGATGTGAAAGCCA	0.498000													33	175					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685893	248685893	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:248685893G>T	ENST00000343414.4	+	1	978	c.946G>T	c.(946-948)Gac>Tac	p.D316Y		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGCCACAAGGACTAGGAAAC	0.488000													7	30					3.09899e-07	3.69003e-07	1	1	0
GALNT15	117248	broad.mit.edu	37	3	16268980	16268980	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:16268980C>A	ENST00000339732.5	+	10	2396	c.1893C>A	c.(1891-1893)gaC>gaA	p.D631E	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GGCGTTTTGACCAGATCAATG	0.428000													6	62					1	1	1	1	0
RNF165	494470	broad.mit.edu	37	18	43914240	43914240	+	Translation_Start_Site	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr18:43914240G>T	ENST00000269439.7	+	1	54	c.3G>T	c.(1-3)atG>atT	p.M1I	RNF165_ENST00000588679.1_Start_Codon_SNP_p.M1I|RNF165_ENST00000590330.1_Start_Codon_SNP_p.M1I|RNF165_ENST00000543885.1_5'UTR|RNF165_ENST00000587853.1_Start_Codon_SNP_p.M1I	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	1							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GAGCCAGGATGGTCCTGGTCC	0.716000													8	20					0.000673444	0.000744333	1	1	0
NDRG1	10397	broad.mit.edu	37	8	134269068	134269068	+	Silent	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr8:134269068G>A	ENST00000414097.2	-	8	1356	c.489C>T	c.(487-489)atC>atT	p.I163I	NDRG1_ENST00000522476.1_Silent_p.I97I|NDRG1_ENST00000323851.7_Silent_p.I163I|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000537882.1_Silent_p.I82I|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000354944.5_Silent_p.I93I	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	163					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GGTTCACGTTGATAAGGACAA	0.562000			T	ERG	prostate								16	28					0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011562	46011562	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr21:46011562G>C	ENST00000400368.1	-	1	824	c.804C>G	c.(802-804)caC>caG	p.H268Q	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	268	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.H268Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CACAGCAGGCGTGCTGGCAGG	0.642000													8	299					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167674739	167674739	+	Silent	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr5:167674739C>T	ENST00000519204.1	+	26	6550	c.6432C>T	c.(6430-6432)gaC>gaT	p.D2144D	TENM2_ENST00000403607.2_Silent_p.D2089D|TENM2_ENST00000518659.1_Silent_p.D2265D|TENM2_ENST00000520394.1_Silent_p.D2026D|TENM2_ENST00000545108.1_Silent_p.D2264D					teneurin transmembrane protein 2																		ACAAAATTGACGACGATGGCT	0.542000													15	82					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22924194	22924194	+	Silent	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:22924194G>C	ENST00000166244.3	+	11	2028	c.1956G>C	c.(1954-1956)ggG>ggC	p.G652G		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	652	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTGCTACGGGAGGCTGCGGG	0.692000													11	58					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156469227	156469227	+	Missense_Mutation	SNP	T	T	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr7:156469227T>A	ENST00000405335.1	+	10	1376	c.967T>A	c.(967-969)Tca>Aca	p.S323T	RNF32_ENST00000317955.5_Missense_Mutation_p.S323T|RNF32_ENST00000432459.2_Missense_Mutation_p.S323T|RNF32_ENST00000311822.8_3'UTR|AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000392743.2_Missense_Mutation_p.S323T|RNF32_ENST00000343665.4_Missense_Mutation_p.S299T			Q9H0A6	RNF32_HUMAN	ring finger protein 32	323						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCTGTCCTGCTCACATGTGTT	0.637000													7	18					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27949588	27949588	+	Silent	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:27949588G>A	ENST00000374005.3	-	4	582	c.294C>T	c.(292-294)ttC>ttT	p.F98F	FGR_ENST00000545953.1_Silent_p.F98F|FGR_ENST00000374004.1_Silent_p.F98F|FGR_ENST00000399173.1_Silent_p.F98F	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	98	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGCCCTTGGTGAAGGTGAGGT	0.552000													4	30					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56481836	56481836	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr6:56481836G>T	ENST00000370765.6	-	24	6536	c.6429C>A	c.(6427-6429)taC>taA	p.Y2143*	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1529					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)			TAGATTCTAGGTAAAGCCCTG	0.418000													7	25					1.06961e-07	1.30042e-07	1	1	0
MYH1	4619	broad.mit.edu	37	17	10409224	10409224	+	Silent	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr17:10409224G>T	ENST00000226207.5	-	19	2173	c.2079C>A	c.(2077-2079)gtC>gtA	p.V693V	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	693	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						GCTGATGCAGGACAAGCTCAT	0.488000													9	39					5.4927e-09	6.97151e-09	1	1	0
TACC2	10579	broad.mit.edu	37	10	123846372	123846372	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr10:123846372G>C	ENST00000369005.1	+	4	4697	c.4357G>C	c.(4357-4359)Gat>Cat	p.D1453H	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.D1453H|TACC2_ENST00000515273.1_Missense_Mutation_p.D1453H|TACC2_ENST00000515603.1_Missense_Mutation_p.D1453H|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.D1453H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1453						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)				GAAGCTTCTAGATGGGCCTCC	0.592000													5	28					0	0	1	0	0
BRMS1	25855	broad.mit.edu	37	11	66109630	66109630	+	Nonsense_Mutation	SNP	C	C	A	rs77057703	by1000genomes	TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr11:66109630C>A	ENST00000359957.3	-	2	236	c.76G>T	c.(76-78)Gag>Tag	p.E26*	BRMS1_ENST00000425825.2_Nonsense_Mutation_p.E26*	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	26					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						TCTTCCTCCTCCCCATTCATC	0.562000													27	49					1.38854e-25	2.18199e-25	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65268705	65268705	+	RNA	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr11:65268705G>T	ENST00000534336.1	+	0	3473					NR_002819.2																						ATTTTTTTTTGTGGGGGTGGG	0.393000													5	25					1.06961e-07	1.30042e-07	1	1	0
N4BP2L2	10443	broad.mit.edu	37	13	33017677	33017677	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr13:33017677G>T	ENST00000357505.6	-	7	1056	c.952C>A	c.(952-954)Cat>Aat	p.H318N	N4BP2L2_ENST00000504114.1_Missense_Mutation_p.H318N|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.H333N	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATGGGTTCATGTGAGAGATTT	0.358000													6	13					3.59834e-05	4.11493e-05	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768677	31768677	+	Silent	SNP	C	C	T	rs151270303		TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:31768677C>T	ENST00000240587.4	-	2	2349	c.2022G>A	c.(2020-2022)ccG>ccA	p.P674P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	674					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACCCATCCCGCGGGGGGCTGG	0.657000													19	46					0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21957492	21957492	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr14:21957492A>T	ENST00000405508.1	+	6	1016	c.740A>T	c.(739-741)aAt>aTt	p.N247I	TOX4_ENST00000448790.2_Missense_Mutation_p.N224I|TOX4_ENST00000262709.3_Missense_Mutation_p.N247I			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	247						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CAGAATCCTAATGCCACTTTT	0.408000													73	118					0	0	1	0	0
FAM72A	729533	broad.mit.edu	37	1	206145516	206145516	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:206145516A>G	ENST00000367128.3	+	3	1141	c.293A>G	c.(292-294)aAc>aGc	p.N98S	FAM72A_ENST00000470041.1_3'UTR|FAM72A_ENST00000367129.2_Missense_Mutation_p.N98S|FAM72A_ENST00000341209.5_Missense_Mutation_p.N58S			Q5TYM5	FA72A_HUMAN	family with sequence similarity 72, member A	98										endometrium(2)	2						TCCTGCAACAACGGACACTTC	0.378000													6	310					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887579	25887579	+	Silent	SNP	T	T	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr10:25887579T>A	ENST00000376351.3	+	11	3383	c.3024T>A	c.(3022-3024)ccT>ccA	p.P1008P	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1008						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGGTGTGTCCTTGGGAGGTTT	0.478000													19	59					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084908	9084908	+	Missense_Mutation	SNP	T	T	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:9084908T>G	ENST00000397910.4	-	1	7110	c.6907A>C	c.(6907-6909)Aag>Cag	p.K2303Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2303	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						CCTGTGGGCTTTGTAGACATA	0.473000													11	17					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105277584	105277584	+	Silent	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:105277584G>T	ENST00000327674.4	-	4	1490	c.1155C>A	c.(1153-1155)atC>atA	p.I385I	SERPINA7_ENST00000372563.1_Silent_p.I385I			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	385					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TATCAATTTGGATAATAGGGT	0.438000													50	253					7.90463e-13	1.10665e-12	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79253199	79253199	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr9:79253199A>G	ENST00000428286.1	-	13	8860	c.7660T>C	c.(7660-7662)Tat>Cat	p.Y2554H	PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Missense_Mutation_p.Y161H|PRUNE2_ENST00000376718.3_Missense_Mutation_p.Y2912H|PRUNE2_ENST00000223609.6_Missense_Mutation_p.Y177H			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2912					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCGTCCCCATAGTATCCTGGG	0.433000													9	21					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116045811	116045811	+	Missense_Mutation	SNP	C	C	T	rs35104580	byFrequency	TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr10:116045811C>T	ENST00000603594.1	+	11	1432	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	VWA2_ENST00000392982.3_Missense_Mutation_p.R371W	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	371	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCGGTTTGTGCGGGCCGTGCT	0.657000													4	179					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48771543	48771543	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:48771543C>T	ENST00000371847.3	-	12	1366	c.1202G>A	c.(1201-1203)aGa>aAa	p.R401K	SPATA6_ENST00000396199.3_Missense_Mutation_p.R329K|SPATA6_ENST00000371843.3_Missense_Mutation_p.R385K	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	401					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTCTAGGTCTCTCTCATCCTG	0.368000													15	84					0	0	1	0	0
AARD	441376	broad.mit.edu	37	8	117950553	117950553	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr8:117950553C>A	ENST00000378279.3	+	1	116	c.71C>A	c.(70-72)gCg>gAg	p.A24E		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	24																	CCAGGTAGAGCGGAGCTTTGG	0.687000													3	45					0.150653	0.151969	1	1	0
TMPPE	643853	broad.mit.edu	37	3	33135073	33135073	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:33135073G>T	ENST00000342462.4	-	2	805	c.615C>A	c.(613-615)aaC>aaA	p.N205K	TMPPE_ENST00000416695.2_Missense_Mutation_p.N68K|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	205						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						TCTTGAGGTTGTTCATTGAGG	0.567000													6	67					8.12818e-05	9.15908e-05	1	1	0
SS18L1	26039	broad.mit.edu	37	20	60738605	60738605	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr20:60738605G>A	ENST00000331758.3	+	6	674	c.648G>A	c.(646-648)atG>atA	p.M216I	SS18L1_ENST00000421564.1_Missense_Mutation_p.M216I|SS18L1_ENST00000370848.4_Missense_Mutation_p.M219I	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	216	Gln-rich.|Methionine-rich intra-molecular domain (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CCATCGCCATGATGGGGCAGG	0.706000			T	SSX1	synovial sarcoma								33	33					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107155225	107155225	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr12:107155225C>A	ENST00000392842.1	+	18	2600	c.2186C>A	c.(2185-2187)gCc>gAc	p.A729D	RFX4_ENST00000357881.4_Missense_Mutation_p.A738D|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.A635D	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	729					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AACGGAGAGGCCTCTACAGGA	0.393000													18	22					1.50039e-11	2.05083e-11	1	1	0
EOMES	8320	broad.mit.edu	37	3	27760113	27760113	+	Silent	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:27760113G>A	ENST00000295743.4	-	5	1547	c.1344C>T	c.(1342-1344)aaC>aaT	p.N448N	EOMES_ENST00000449599.1_Silent_p.N448N|EOMES_ENST00000537516.1_Silent_p.N153N			O95936	EOMES_HUMAN	eomesodermin	448					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						TTGCAAAGGGGTTATGATCAA	0.403000													16	66					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654230	46654230	+	Missense_Mutation	SNP	G	G	A	rs141791457		TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr22:46654230G>A	ENST00000253255.5	-	1	4989	c.4990C>T	c.(4990-4992)Cgt>Tgt	p.R1664C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1664					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGATGCATACGCATTCCATCC	0.418000													18	29					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392753	89392753	+	RNA	SNP	A	A	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr11:89392753A>C	ENST00000532352.1	+	0	576							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTCTCTACTCAGACCCTGCTG	0.453000													4	58					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87635229	87635229	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr9:87635229G>T	ENST00000376214.1	+	20	3219	c.2281G>T	c.(2281-2283)Gag>Tag	p.E761*	NTRK2_ENST00000376213.1_Nonsense_Mutation_p.E745*|NTRK2_ENST00000323115.4_Nonsense_Mutation_p.E745*|NTRK2_ENST00000277120.3_Nonsense_Mutation_p.E761*	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	745	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CGTGTTGTGGGAGATTTTCAC	0.557000										TSP Lung(25;0.17)			44	141					2.56175e-15	3.69852e-15	1	1	0
CHL1	10752	broad.mit.edu	37	3	423930	423930	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:423930G>A	ENST00000256509.2	+	17	2587	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	CHL1_ENST00000397491.2_Missense_Mutation_p.E633K|CHL1-AS1_ENST00000417612.1_RNA	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	633	Fibronectin type-III 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)		GCTGACCTGGGAAGCTGGAGC	0.403000													11	43					0	0	1	0	0
TMX3	54495	broad.mit.edu	37	18	66367658	66367658	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr18:66367658C>G	ENST00000299608.2	-	6	692	c.376G>C	c.(376-378)Gct>Cct	p.A126P	TMX3_ENST00000443099.2_Intron|TMX3_ENST00000562706.1_Missense_Mutation_p.A126P	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	126	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ACTCTGTGAGCAAACTCAATA	0.264000													14	106					0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97711773	97711773	+	RNA	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:97711773G>C	ENST00000472788.1	-	0	1028					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						ATGACTGACAGGAACACAAAG	0.512000													22	134					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17660430	17660430	+	Missense_Mutation	SNP	T	T	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:17660430T>A	ENST00000595684.1	+	15	2075	c.1937T>A	c.(1936-1938)gTg>gAg	p.V646E	FAM129C_ENST00000335393.4_Intron|FAM129C_ENST00000601861.1_Intron|FAM129C_ENST00000332386.5_Intron|FAM129C_ENST00000599164.1_Intron|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000449408.2_Intron|FAM129C_ENST00000352727.3_Intron			Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	0										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GTCATGAGTGTGGGTTCATGG	0.562000													8	20					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7414881	7414881	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr5:7414881C>G	ENST00000338316.4	+	2	495	c.406C>G	c.(406-408)Cag>Gag	p.Q136E		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	136					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCCCTGGGACCAGGTAAGGTG	0.428000													10	35					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56565344	56565344	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr17:56565344C>A	ENST00000323777.3	-	1	401	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	98						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGCCGCCCCCCGGCCCGCCC	0.677000													8	29					5.68852e-11	7.63982e-11	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20588474	20588474	+	RNA	SNP	C	C	T	rs111409649	by1000genomes	TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr15:20588474C>T	ENST00000428453.1	-	0	4276																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGTGCAGTGTCCCCAGGACAC	0.483000													6	29					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482366	140482366	+	Silent	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr5:140482366G>T	ENST00000231130.2	+	1	2133	c.2133G>T	c.(2131-2133)gtG>gtT	p.V711V		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		711					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGTGGCGGTGCGGCTGTGCA	0.692000													63	191					1.8615e-32	2.98615e-32	1	1	0
DNAJC10	54431	broad.mit.edu	37	2	183608324	183608324	+	Splice_Site	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:183608324G>T	ENST00000264065.6	+	14	1606		c.e14-1			NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10						apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCTCCTTTAGGTTGGCAGGT	0.373000													20	43					4.30721e-22	6.58917e-22	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168106658	168106658	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:168106658A>T	ENST00000409195.1	+	9	8845	c.8756A>T	c.(8755-8757)gAg>gTg	p.E2919V	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2919V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2697V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2744					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAAAGCAAGAGATTACACAG	0.383000													12	105					0	0	1	0	0
TRAV18	28665	broad.mit.edu	37	14	22471889	22471889	+	RNA	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr14:22471889C>A	ENST00000390446.3	+	0	417																											CGGACTCTGCCGTGTACTACT	0.597000													9	14					0.00621372	0.00664522	1	1	0
AMY2B	280	broad.mit.edu	37	1	104122020	104122020	+	Silent	SNP	A	A	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:104122020A>T	ENST00000361355.4	+	12	2050	c.1434A>T	c.(1432-1434)acA>acT	p.T478T	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	478					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GCAATTGCACAGGCATTAAAA	0.343000													92	229					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670396	158670396	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:158670396G>C	ENST00000359610.2	-	1	90	c.47C>G	c.(46-48)gCt>gGt	p.A16G		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATAAGGGAAAGCGGAGAAGAT	0.453000													26	80					0	0	1	0	0
TRAV9-2	28677	broad.mit.edu	37	14	22409381	22409381	+	RNA	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr14:22409381C>A	ENST00000390441.2	+	0	69																											GAACTATTCTCCAGGCTTAGT	0.353000													6	27					2.7689e-08	3.40221e-08	1	1	0
DMD	1756	broad.mit.edu	37	X	31227650	31227650	+	Silent	SNP	A	A	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:31227650A>G	ENST00000357033.4	-	65	9734	c.9528T>C	c.(9526-9528)gaT>gaC	p.D3176D	DMD_ENST00000541735.1_Silent_p.D716D|DMD_ENST00000474231.1_Silent_p.D716D|DMD_ENST00000378723.3_Silent_p.D108D|DMD_ENST00000378677.2_Silent_p.D3172D|DMD_ENST00000378702.4_Silent_p.D108D|DMD_ENST00000378680.2_Silent_p.D108D|DMD_ENST00000361471.4_Silent_p.D108D|DMD_ENST00000359836.1_Silent_p.D716D|DMD_ENST00000343523.2_Silent_p.D716D|DMD_ENST00000378707.3_Silent_p.D716D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3176	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAGACACATATCCACGCAGA	0.453000													21	90					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757607	242757607	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:242757607G>T	ENST00000391969.2	+	5	1399	c.688G>T	c.(688-690)Ggt>Tgt	p.G230C	NEU4_ENST00000407683.1_Missense_Mutation_p.G230C|NEU4_ENST00000405370.1_Missense_Mutation_p.G230C|NEU4_ENST00000404257.1_Missense_Mutation_p.G242C|NEU4_ENST00000325935.6_Missense_Mutation_p.G243C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	230						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGCGGTGGACGGTGGGCAGGC	0.701000													3	6					0.115264	0.117295	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25446344	25446344	+	RNA	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr15:25446344C>A	ENST00000424208.1	+	0	1919				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ATCCGTCAGCCTGGTGTCCAG	0.567000													7	92					8.12818e-05	9.15908e-05	1	1	0
MYC	4609	broad.mit.edu	37	8	128750945	128750945	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr8:128750945C>T	ENST00000377970.2	+	2	992	c.482C>T	c.(481-483)tCa>tTa	p.S161L	MYC_ENST00000524013.1_Missense_Mutation_p.S160L|MYC_ENST00000259523.6_Missense_Mutation_p.S146L	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	146					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAGCTCGTCTCAGAGAAGCTG	0.622000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	39					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54349938	54349938	+	Missense_Mutation	SNP	G	G	T	rs139767150	byFrequency	TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr18:54349938G>T	ENST00000254442.3	+	5	585	c.374G>T	c.(373-375)cGa>cTa	p.R125L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R125L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	125										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGGAATCAGCGAGAAGGAAGG	0.378000													45	88					9.87224e-16	1.45254e-15	1	1	0
GLRA2	2742	broad.mit.edu	37	X	14748490	14748490	+	Silent	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:14748490G>T	ENST00000218075.4	+	9	1772	c.1242G>T	c.(1240-1242)cgG>cgT	p.R414R	GLRA2_ENST00000355020.4_Silent_p.R414R|GLRA2_ENST00000443437.2_Silent_p.R325R	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	414					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TTGTGGACCGGGCAAAAAGGA	0.473000													27	107					2.79863e-10	3.71543e-10	1	1	0
PMFBP1	83449	broad.mit.edu	37	16	72184643	72184643	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr16:72184643G>A	ENST00000537465.1	-	5	658	c.500C>T	c.(499-501)gCc>gTc	p.A167V	PMFBP1_ENST00000237353.10_Missense_Mutation_p.A167V|PMFBP1_ENST00000355636.6_Missense_Mutation_p.A22V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	167										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTTGTCCCCGGCCAAGGCGAG	0.498000													4	100					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42213496	42213496	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr20:42213496G>T	ENST00000373100.1	+	14	1404	c.944G>T	c.(943-945)gGa>gTa	p.G315V	SGK2_ENST00000426287.1_Missense_Mutation_p.G341V|SGK2_ENST00000423407.3_Missense_Mutation_p.G315V|SGK2_ENST00000373077.1_Missense_Mutation_p.G314V|SGK2_ENST00000373092.3_Missense_Mutation_p.G315V|SGK2_ENST00000341458.4_Missense_Mutation_p.G375V			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	375	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGACAGACAGGACCTGCTGAC	0.547000													19	169					2.70639e-06	3.17349e-06	1	1	0
PTPRCAP	5790	broad.mit.edu	37	11	67203268	67203268	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr11:67203268C>A	ENST00000326294.3	-	2	1004	c.557G>T	c.(556-558)aGc>aTc	p.S186I		NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	186					defense response	integral to membrane|plasma membrane				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCAGGCTGCGCTGCCAGCAAA	0.692000													6	27					3.59834e-05	4.11493e-05	1	1	0
CDK5RAP2	55755	broad.mit.edu	37	9	123253737	123253737	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr9:123253737C>G	ENST00000349780.4	-	13	1509	c.1330G>C	c.(1330-1332)Gaa>Caa	p.E444Q	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E444Q|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E444Q|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E444Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	444					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CGTAATTTTTCAACTTCATTT	0.308000													7	23					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49210287	49210287	+	Silent	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:49210287C>A	ENST00000406846.2	-	7	662	c.543G>T	c.(541-543)ggG>ggT	p.G181G	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Silent_p.G155G|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Silent_p.G181G	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	181					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTTCTTGAATCCCATTCTTAT	0.383000									Gonadal Dysgenesis, 46 XX				9	25					5.68852e-11	7.63982e-11	1	1	0
TCF3	6929	broad.mit.edu	37	19	1612273	1612273	+	Silent	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:1612273C>A	ENST00000344749.5	-	18	1812	c.1746G>T	c.(1744-1746)gcG>gcT	p.A582A	TCF3_ENST00000262965.5_Intron|TCF3_ENST00000588136.1_Silent_p.A582A|TCF3_ENST00000395423.3_Intron|TCF3_ENST00000453954.2_Silent_p.A497A	NM_001136139.2	NP_001129611.1	P15923	TFE2_HUMAN	transcription factor 3	585	Helix-loop-helix motif.				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)		GCTTGGTCTGCGCTTTGTCCG	0.672000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								9	34					3.86212e-05	4.39483e-05	1	1	0
SAMD14	201191	broad.mit.edu	37	17	48195543	48195543	+	Silent	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr17:48195543C>A	ENST00000330175.4	-	3	509	c.192G>T	c.(190-192)tcG>tcT	p.S64S	SAMD14_ENST00000503131.1_Silent_p.S64S|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	64								p.S64S(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						CGGGCCCATCCGAGCCTTCAC	0.637000													18	89					9.57634e-11	1.27869e-10	1	1	0
DCLK3	85443	broad.mit.edu	37	3	36779990	36779990	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:36779990C>G	ENST00000416516.2	-	2	651	c.161G>C	c.(160-162)tGt>tCt	p.C54S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	54						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGTCTCCCCACAGCGGTGGTC	0.612000													16	86					0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151237694	151237694	+	Missense_Mutation	SNP	T	T	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:151237694T>G	ENST00000368884.3	+	5	502	c.422T>G	c.(421-423)aTc>aGc	p.I141S	PSMD4_ENST00000368881.4_Missense_Mutation_p.I141S	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	141	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTGACATTATCAATTTTGGG	0.448000													4	34					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26428330	26428330	+	RNA	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr6:26428330G>T	ENST00000466808.2	+	0	1299																											CAGTAAAAGAggccaggtatg	0.468000													6	14					0.00116845	0.0012792	1	1	0
RNF32	140545	broad.mit.edu	37	7	156469341	156469341	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr7:156469341G>C	ENST00000405335.1	+	10	1490	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	RNF32_ENST00000317955.5_Missense_Mutation_p.E361Q|RNF32_ENST00000432459.2_Missense_Mutation_p.E361Q|RNF32_ENST00000311822.8_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.E361Q|RNF32_ENST00000343665.4_Missense_Mutation_p.E337Q			Q9H0A6	RNF32_HUMAN	ring finger protein 32	361						aggresome|endosome	protein binding|zinc ion binding	p.E361Q(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGATTCTTGAATGTTGAAT	0.453000													6	21					0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45673790	45673790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr17:45673790C>T	ENST00000322157.4	+	13	1735	c.1498C>T	c.(1498-1500)Caa>Taa	p.Q500*	NPEPPS_ENST00000544660.1_Nonsense_Mutation_p.Q420*|NPEPPS_ENST00000530173.1_Nonsense_Mutation_p.Q496*	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	500					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CTGGACCAAACAAATGGGATT	0.343000													3	10					0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160535532	160535532	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:160535532G>A	ENST00000368054.3	-	2	85	c.50C>T	c.(49-51)cCg>cTg	p.P17L	CD84_ENST00000368047.3_5'UTR|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368048.3_Missense_Mutation_p.P17L|CD84_ENST00000534968.1_Intron|CD84_ENST00000368051.3_Missense_Mutation_p.P17L|CD84_ENST00000311224.4_Missense_Mutation_p.P17L	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	17					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGCTGCTTCCGGCCCTGAGAA	0.453000													7	22					0	0	1	0	0
UGT2A2	574537	broad.mit.edu	37	4	70505031	70505031	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr4:70505031G>T	ENST00000457664.2	-	1	327	c.328C>A	c.(328-330)Cct>Act	p.P110T	UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P311T|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron	NM_001105677.2	NP_001099147.2																					ATTGTGAGAGGAGTTGGTCTA	0.358000													11	74					1.58986e-06	1.88338e-06	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25446475	25446475	+	RNA	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr15:25446475G>C	ENST00000424208.1	+	0	1988				SNORD115-17_ENST00000364612.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GGGTTGGGTCGATGATGAGAA	0.502000													36	333					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43420399	43420399	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:43420399G>T	ENST00000601833.1	-	2	1375	c.92C>A	c.(91-93)tCc>tAc	p.S31Y	PSG6_ENST00000292125.2_Missense_Mutation_p.S102Y|PSG6_ENST00000402603.4_Missense_Mutation_p.S102Y|PSG6_ENST00000187910.2_Missense_Mutation_p.S102Y					pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GGATGCATTGGAATATACTGT	0.458000													113	341					2.55756e-57	4.16054e-57	1	1	0
PCDH7	5099	broad.mit.edu	37	4	30723223	30723223	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr4:30723223G>T	ENST00000361762.2	+	1	1187	c.179G>T	c.(178-180)gGa>gTa	p.G60V	PCDH7_ENST00000543491.1_Missense_Mutation_p.G60V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	60	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATCGTGACCGGATCGGGTGAG	0.677000													4	58					0.00909568	0.00963808	1	1	0
BMX	660	broad.mit.edu	37	X	15560198	15560198	+	Silent	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:15560198C>T	ENST00000357607.2	+	15	1676	c.1488C>T	c.(1486-1488)tgC>tgT	p.C496C	BMX_ENST00000348343.6_Silent_p.C496C|BMX_ENST00000342014.6_Silent_p.C496C			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	496	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GCAATGGCTGCTTGCTGAATT	0.443000													37	160					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727661	137727661	+	Silent	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr5:137727661G>C	ENST00000314358.5	+	8	2540	c.2340G>C	c.(2338-2340)ccG>ccC	p.P780P	KDM3B_ENST00000394866.1_Silent_p.P436P|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	780					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGTCCTCCCCGGCAGATTTTT	0.532000													122	364					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			3	5					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158607971	158607971	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:158607971C>T	ENST00000368148.3	-	36	5221	c.5041G>A	c.(5041-5043)Gtt>Att	p.V1681I	SPTA1_ENST00000368147.3_Missense_Mutation_p.V1681I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1681					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)					ATCTGATCAACGTTGAAAGTC	0.423000													8	50					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	110035358	110035358	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:110035358A>T	ENST00000218054.4	-	2	248	c.52T>A	c.(52-54)Ttc>Atc	p.F18I	CHRDL1_ENST00000444321.2_Missense_Mutation_p.F18I|CHRDL1_ENST00000434224.1_Missense_Mutation_p.F18I|CHRDL1_ENST00000372045.1_Missense_Mutation_p.F12I|CHRDL1_ENST00000372042.1_Missense_Mutation_p.F18I|CHRDL1_ENST00000394797.4_Missense_Mutation_p.F18I|CHRDL1_ENST00000482160.1_Missense_Mutation_p.F18I	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	12					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AAAAGAAAGAACAACAACGAA	0.363000													6	39					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951954	119951954	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr4:119951954C>T	ENST00000307142.4	+	4	2220	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.S675L|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S675L	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	675						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGAGGATCTCAGTGCCAGCA	0.532000													27	42					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8707991	8707991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr20:8707991G>T	ENST00000378641.3	+	17	2189	c.1714G>T	c.(1714-1716)Gaa>Taa	p.E572*	PLCB1_ENST00000378637.2_Nonsense_Mutation_p.E572*|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Nonsense_Mutation_p.E572*	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	572	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTCCTTCGTGGAAACCAAAGG	0.353000													26	44					5.77227e-19	8.60255e-19	1	1	0
CEACAM18	729767	broad.mit.edu	37	19	51986378	51986378	+	Silent	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:51986378C>T	ENST00000396477.4	+	4	802	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	CEACAM18_ENST00000451626.1_Silent_p.L322L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	322						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTATTCCTTCCTGGATCTCAA	0.507000													62	156					0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45169549	45169549	+	Silent	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:45169549G>T	ENST00000260653.3	+	1	648	c.306G>T	c.(304-306)acG>acT	p.T102T		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	102					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGAGGAGACGGGCGACATCG	0.697000													7	20					0.00198382	0.00215146	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803677	185803677	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:185803677C>A	ENST00000302277.6	+	4	4148	c.3554C>A	c.(3553-3555)cCa>cAa	p.P1185Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1185						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTGGCTTTCCCATCTTTACCC	0.488000													82	144					1.45978e-39	2.35811e-39	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20448632	20448632	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr16:20448632G>T	ENST00000331849.4	+	12	1626	c.1479G>T	c.(1477-1479)gaG>gaT	p.E493D		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	493					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCCTGGCAGAGCATCCTGCTG	0.562000													17	64					4.14922e-12	5.70517e-12	1	1	0
TAAR8	83551	broad.mit.edu	37	6	132874290	132874290	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr6:132874290C>A	ENST00000275200.1	+	1	459	c.459C>A	c.(457-459)agC>agA	p.S153R		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	153			S -> N (in dbSNP:rs8192626).			plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTTGCATCAGCGTGTCCTGGA	0.502000													46	195					4.14194e-30	6.59853e-30	1	1	0
SNX18	112574	broad.mit.edu	37	5	53814691	53814691	+	Silent	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr5:53814691G>T	ENST00000343017.6	+	1	1103	c.909G>T	c.(907-909)acG>acT	p.T303T	SNX18_ENST00000326277.3_Silent_p.T303T|SNX18_ENST00000381410.4_Silent_p.T303T	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	303	PX.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TGGTGCCCACGCACACGCAGG	0.627000													18	57					1.67942e-08	2.097e-08	1	1	0
SLC45A4	57210	broad.mit.edu	37	8	142221548	142221548	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr8:142221548C>A	ENST00000024061.3	-	8	2697	c.2390G>T	c.(2389-2391)aGa>aTa	p.R797I	SLC45A4_ENST00000519067.1_3'UTR|SLC45A4_ENST00000433583.2_3'UTR|SLC45A4_ENST00000517878.1_3'UTR	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	0					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|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;0.0493)			AAATCACTGTCTTCTGCCCAG	0.682000													14	66					2.32078e-09	2.99498e-09	1	1	0
PGM2L1	283209	broad.mit.edu	37	11	74054019	74054019	+	Silent	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr11:74054019C>T	ENST00000298198.4	-	11	1664	c.1353G>A	c.(1351-1353)gtG>gtA	p.V451V		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	451					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CAGCTGCACTCACCCCATCTT	0.373000													42	84					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120192459	120192459	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr4:120192459G>T	ENST00000450251.1	+	12	1988	c.1444G>T	c.(1444-1446)Gat>Tat	p.D482Y	USP53_ENST00000274030.6_Missense_Mutation_p.D482Y			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	482					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AGATTTGGTTGATGAAGACCT	0.353000													9	23					0.000274275	0.000307561	1	1	0
FCRL2	79368	broad.mit.edu	37	1	157737171	157737171	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:157737171C>G	ENST00000361516.3	-	6	1060	c.1012G>C	c.(1012-1014)Gat>Cat	p.D338H	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.D338H|FCRL2_ENST00000469986.1_Missense_Mutation_p.D85H	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	338	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGGGTGACATCCTCATGATAA	0.577000													61	116					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	by1000genomes	TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr22:18778612C>T	ENST00000412448.1	-	0	793																											GCGGCCACGGCAGCCCTGGTG	0.637000													4	27					0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10302145	10302145	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:10302145C>G	ENST00000287652.4	+	3	1790	c.739C>G	c.(739-741)Cag>Gag	p.Q247E	TATDN2_ENST00000448281.2_Missense_Mutation_p.Q247E|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	247						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CACTGCTGCTCAGAAGGAGAA	0.557000													8	32					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569987	248569987	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:248569987C>A	ENST00000366474.1	+	1	692	c.692C>A	c.(691-693)gCa>gAa	p.A231E		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTGTGAGGCACCAGCAGTC	0.512000													11	102					6.42651e-13	9.05198e-13	1	1	0
OR6F1	343169	broad.mit.edu	37	1	247875713	247875713	+	Silent	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:247875713C>A	ENST00000302084.2	-	1	392	c.345G>T	c.(343-345)ctG>ctT	p.L115L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CCATGGCTGCCAGGAGGAAGT	0.512000													20	57					1.37522e-17	2.03639e-17	1	1	0
HEXIM1	10614	broad.mit.edu	37	17	43226680	43226680	+	Silent	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr17:43226680C>A	ENST00000332499.2	+	1	1997	c.123C>A	c.(121-123)ccC>ccA	p.P41P		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	41					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGCGGGTGCCCGAGGAGGACA	0.642000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	141					0.150653	0.151969	1	1	0
ATM	472	broad.mit.edu	37	11	108124619	108124619	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr11:108124619G>T	ENST00000278616.4	+	13	2362	c.1977G>T	c.(1975-1977)aaG>aaT	p.K659N	ATM_ENST00000452508.2_Missense_Mutation_p.K659N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	659					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTTTTGACAAGATGGACTTTT	0.373000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			12	58					1.08611e-07	1.31356e-07	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181764118	181764118	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:181764118C>A	ENST00000526775.1	+	44	6125	c.5960C>A	c.(5959-5961)tCc>tAc	p.S1987Y	CACNA1E_ENST00000358338.5_Missense_Mutation_p.S1938Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2000Y|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2049Y|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2006Y|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1613Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2030Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2049					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCTACAAGTCCCGTCGCCGG	0.517000													15	57					1.52009e-12	2.10264e-12	1	1	0
CUBN	8029	broad.mit.edu	37	10	16989252	16989252	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr10:16989252C>A	ENST00000377833.4	-	36	5389	c.5324G>T	c.(5323-5325)cGg>cTg	p.R1775L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1775	CUB 12.		R -> W (in dbSNP:rs1276708).		cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCTGGAGCCGGTTGCCAGG	0.448000													9	49					5.4927e-09	6.97151e-09	1	1	0
PDGFA	5154	broad.mit.edu	37	7	551998	551998	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr7:551998C>G	ENST00000402802.3	-	3	662	c.255G>C	c.(253-255)aaG>aaC	p.K85N	PDGFA_ENST00000354513.5_Missense_Mutation_p.K85N	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	85					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CGATGCTTCTCTTCCTCCGAA	0.672000													5	38					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36093631	36093631	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr4:36093631G>C	ENST00000303965.4	-	28	4786	c.4297C>G	c.(4297-4299)Ctg>Gtg	p.L1433V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1433					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						ATGCTTCCCAGTGTACTCCGG	0.328000													38	102					0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29253928	29253928	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr17:29253928C>A	ENST00000330889.3	+	3	644	c.309C>A	c.(307-309)aaC>aaA	p.N103K	ADAP2_ENST00000580525.1_Missense_Mutation_p.N109K	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	103	Arf-GAP.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCCAGGCCAACGACTGCCTGT	0.542000													8	38					2.17888e-05	2.52925e-05	1	1	0
RPL22L1	200916	broad.mit.edu	37	3	170587948	170587948	+	Splice_Site	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:170587948C>T	ENST00000295830.8	-	1	324	c.9_splice	c.e1+1	p.P3_splice	RPL22L1_ENST00000463836.1_Splice_Site_p.P3_splice	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	3					translation	ribosome	structural constituent of ribosome			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GCTCACTCACCGGCGCCATCT	0.547000													6	40					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786497	121786497	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr5:121786497C>A	ENST00000261367.7	+	12	3524	c.2096C>A	c.(2095-2097)tCt>tAt	p.S699Y	SNCAIP_ENST00000261368.8_Missense_Mutation_p.S652Y|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S592Y|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.S254Y|SNCAIP_ENST00000379538.3_Missense_Mutation_p.S286Y|SNCAIP_ENST00000542191.1_Missense_Mutation_p.S210Y|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S699Y|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	652					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCTAGAAATTCTAAAAAGATC	0.463000													22	54					1.9806e-07	2.38291e-07	1	1	0
KMT2B	9757	broad.mit.edu	37	19	36212423	36212423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:36212423C>T	ENST00000341701.1	+	4	1741	c.1741C>T	c.(1741-1743)Cag>Tag	p.Q581*	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.P725L|WBP7_ENST00000222270.7_Missense_Mutation_p.P725L																							CACGGGGCTCCAGCTCTGAGC	0.667000													22	58					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725813	87725813	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr6:87725813C>T	ENST00000305344.4	+	2	1464	c.761C>T	c.(760-762)aCa>aTa	p.T254I	HTR1E_ENST00000369584.1_Missense_Mutation_p.T254I	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	254					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GACCCTACCACAGAGTTTGAA	0.478000													49	179					0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23018536	23018536	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:23018536C>A	ENST00000327968.5	+	1	450	c.362C>A	c.(361-363)tCa>tAa	p.S121*	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	121						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AGCTACAACTCAGAATCCAGT	0.398000													22	90					1.96895e-08	2.43223e-08	1	1	0
COL19A1	1310	broad.mit.edu	37	6	70646764	70646764	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr6:70646764C>G	ENST00000322773.4	+	8	937	c.835C>G	c.(835-837)Cag>Gag	p.Q279E		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	279				Q -> L (in Ref. 1; BAA07368).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCCAGCAAAGCAGGAACTTAA	0.443000													17	58					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846926	123846926	+	Silent	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr10:123846926G>A	ENST00000369005.1	+	4	5251	c.4911G>A	c.(4909-4911)caG>caA	p.Q1637Q	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.Q1637Q|TACC2_ENST00000515273.1_Silent_p.Q1637Q|TACC2_ENST00000515603.1_Silent_p.Q1637Q|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.Q1637Q	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1637						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)				CTTCTCCTCAGAGGGAGGTTT	0.592000													11	47					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39310474	39310474	+	Missense_Mutation	SNP	T	T	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr4:39310474T>C	ENST00000381897.1	-	13	1800	c.1667A>G	c.(1666-1668)aAg>aGg	p.K556R	RFC1_ENST00000349703.2_Missense_Mutation_p.K556R	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	556					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CACCTGCTCCTTGAAATCCAG	0.433000													55	184					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44683588	44683588	+	Silent	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr3:44683588G>A	ENST00000396058.1	+	5	1133	c.966G>A	c.(964-966)aaG>aaA	p.K322K	ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.K322K|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	322					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATACAGTGAAGAAAGTTTCCC	0.443000													3	44					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89084114	89084114	+	RNA	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:89084114G>A	ENST00000393525.3	+	0	576																											TTGCTTTTCAGTGTCTTCTCA	0.313000													7	69					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58102240	58102240	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:58102240G>T	ENST00000597850.1	+	4	1276	c.1061G>T	c.(1060-1062)gGt>gTt	p.G354V	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.G299V|ZIK1_ENST00000536878.2_Missense_Mutation_p.G341V	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TATAAGTGTGGTGAATGTGGG	0.448000													15	85					2.48551e-13	3.5224e-13	1	1	0
SALL1	6299	broad.mit.edu	37	16	51172740	51172740	+	Silent	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr16:51172740G>A	ENST00000440970.1	-	2	3533	c.3102C>T	c.(3100-3102)ccC>ccT	p.P1034P	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.P1131P|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1131					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGTGCTGCTTGGGAGTTCTCC	0.562000													20	29					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94054832	94054832	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:94054832C>A	ENST00000370244.1	-	7	919	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S	BCAR3_ENST00000370247.3_Missense_Mutation_p.A120S|BCAR3_ENST00000370243.1_Missense_Mutation_p.A211S|BCAR3_ENST00000260502.6_Missense_Mutation_p.A211S	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	211	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CGGCTGTAGGCCTCGCTGAGT	0.602000													9	25					3.09899e-07	3.69003e-07	1	1	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22472937	22472937	+	RNA	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr15:22472937C>A	ENST00000557788.2	-	0	333																											CAGTAATACACGGCCCTGTCC	0.597000													31	391					2.2171e-23	3.41434e-23	1	1	0
ITGA3	3675	broad.mit.edu	37	17	48156482	48156482	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr17:48156482G>T	ENST00000320031.8	+	20	2773	c.2443G>T	c.(2443-2445)Gtc>Ttc	p.V815F	ITGA3_ENST00000007722.7_Missense_Mutation_p.V815F	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	815					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GGGGACCCTGGTCCTAGGTCT	0.602000													20	36					4.35082e-09	5.58355e-09	1	1	0
TACC2	10579	broad.mit.edu	37	10	123846729	123846729	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr10:123846729G>C	ENST00000369005.1	+	4	5054	c.4714G>C	c.(4714-4716)Gag>Cag	p.E1572Q	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.E1572Q|TACC2_ENST00000515273.1_Missense_Mutation_p.E1572Q|TACC2_ENST00000515603.1_Missense_Mutation_p.E1572Q|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.E1572Q	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1572						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)				GCTCCCTGTGGAGAGAGCTGC	0.582000													7	48					0	0	1	0	0
VRK2	7444	broad.mit.edu	37	2	58313497	58313497	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:58313497C>G	ENST00000435505.2	+	8	1025	c.280C>G	c.(280-282)Caa>Gaa	p.Q94E	VRK2_ENST00000440705.2_Missense_Mutation_p.Q71E|VRK2_ENST00000417641.2_Missense_Mutation_p.Q94E|VRK2_ENST00000340157.4_Missense_Mutation_p.Q94E|VRK2_ENST00000412104.2_Missense_Mutation_p.Q94E			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	94	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AGAACGCAAACAACTTGATTA	0.274000													16	118					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597635	36597635	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr11:36597635C>G	ENST00000299440.5	+	2	2893	c.2781C>G	c.(2779-2781)ttC>ttG	p.F927L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	927					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTACGAAGTTCAAGTATAGGT	0.458000									Familial Hemophagocytic Lymphohistiocytosis				16	40					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104579485	104579485	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr4:104579485C>A	ENST00000304883.2	-	2	764	c.624G>T	c.(622-624)tgG>tgT	p.W208C		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	208						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATGCTAGAATCCAAATACTTC	0.413000													15	57					9.16793e-09	1.15726e-08	1	1	0
KLK5	25818	broad.mit.edu	37	19	51453126	51453126	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:51453126G>T	ENST00000336334.3	-	3	672	c.320C>A	c.(319-321)gCc>gAc	p.A107D	KLK5_ENST00000593428.1_Missense_Mutation_p.A107D|KLK5_ENST00000391809.2_Missense_Mutation_p.A107D	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	107	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CCTGCAGTGGGCGGCCGTGAG	0.657000													12	36					1.41608e-15	2.05732e-15	1	1	0
SELE	6401	broad.mit.edu	37	1	169701017	169701017	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:169701017C>G	ENST00000333360.7	-	4	627	c.488G>C	c.(487-489)tGc>tCc	p.C163S	SELE_ENST00000367782.4_Missense_Mutation_p.C163S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.C163S|SELE_ENST00000367775.1_Missense_Mutation_p.C163S|SELE_ENST00000367776.1_Missense_Mutation_p.C163S|SELE_ENST00000367780.4_Missense_Mutation_p.C163S|SELE_ENST00000461085.1_5'UTR|SELE_ENST00000367779.4_Missense_Mutation_p.C163S|SELE_ENST00000367777.1_Missense_Mutation_p.C163S|SELE_ENST00000367774.1_Missense_Mutation_p.C163S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	163	EGF-like.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GTCACACTTGCAAGTGTAATT	0.468000													24	50					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247661	247661	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr12:247661G>T	ENST00000538872.1	+	4	1250	c.1132G>T	c.(1132-1134)Ggg>Tgg	p.G378W	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.G378W|IQSEC3_ENST00000382841.2_Missense_Mutation_p.G75W			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	378					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGGCCTCGTGGGGCTGCCGCT	0.711000													6	4					0.0215528	0.022528	1	1	0
NHSL2	340527	broad.mit.edu	37	X	71358509	71358509	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:71358509G>A	ENST00000373677.1	+	2	1275	c.13G>A	c.(13-15)Gga>Aga	p.G5R	NHSL2_ENST00000535692.1_Missense_Mutation_p.G5R|NHSL2_ENST00000540800.1_Missense_Mutation_p.G371R|NHSL2_ENST00000510661.1_Missense_Mutation_p.G140R			F5H593	F5H593_HUMAN	NHS-like 2	371										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GGAGAGCATGGGAATGGTGTA	0.547000													3	12					0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654762	161654762	+	RNA	SNP	G	G	C			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:161654762G>C	ENST00000426558.1	-	0	280					NR_002595.1																						TTCGGTATGGGACATTCTTAT	0.458000													3	50					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46823700	46823700	+	Splice_Site	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:46823700C>A	ENST00000339613.2	+	9	1113	c.857_splice	c.e9-1	p.S286_splice	HIF3A_ENST00000377670.4_Splice_Site_p.S342_splice|HIF3A_ENST00000472815.1_Splice_Site_p.S273_splice|HIF3A_ENST00000244303.6_Splice_Site_p.S273_splice|HIF3A_ENST00000300862.3_Splice_Site_p.S340_splice|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Splice_Site_p.S273_splice|HIF3A_ENST00000420102.2_Splice_Site_p.S291_splice			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	342	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGTACCCCAGCCAGGTGGAAG	0.602000													23	79					1.22574e-08	1.53883e-08	1	1	0
REG3A	5068	broad.mit.edu	37	2	79385543	79385543	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr2:79385543C>A	ENST00000393878.1	-	3	496	c.242G>T	c.(241-243)aGt>aTt	p.S81I	REG3A_ENST00000409839.3_Missense_Mutation_p.S81I|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.S81I	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	81	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CTCAGCCCCACTGAGCACAGA	0.582000													28	42					2.4375e-19	3.65625e-19	1	1	0
ALG5	29880	broad.mit.edu	37	13	37569564	37569564	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr13:37569564C>A	ENST00000239891.3	-	2	302	c.236G>T	c.(235-237)cGg>cTg	p.R79L	ALG5_ENST00000443765.1_Missense_Mutation_p.R79L|ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Missense_Mutation_p.R79L	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	79					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GGGCTTACACCGTTTTTCTTC	0.358000													21	41					1.10513e-12	1.53787e-12	1	1	0
PADI6	353238	broad.mit.edu	37	1	17720687	17720687	+	RNA	DEL	G	G	-	rs67226027		TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr1:17720687delG	ENST00000434762.2	+	0	1233							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCCTCTGAGGGGGGAGGGG	0.587													5	5	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr10:129902204_129902205delTG	ENST00000368654.3	-	13	8274_8275	c.7899_7900delCA	c.(7897-7902)caaafs	p.HK2633fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2633	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGTTCTTTGTGTGTGTGTG	0.500													8	165	---	---	---	---					
TAF1D	79101	broad.mit.edu	37	11	93471306	93471306	+	Frame_Shift_Del	DEL	T	T	-			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr11:93471306delT	ENST00000448108.2	-	3	1078	c.428delA	c.(427-429)acfs	p.N143fs		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CCAAGGTGCGTTTTTTTCATT	0.353													24	81	---	---	---	---					
RP11-360K13.1	0	broad.mit.edu	37	11	96514998	96514999	+	RNA	INS	-	-	A	rs112766481		TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr11:96514998_96514999insA	ENST00000527528.1	+	0	158																											GCTTAGTTATTaaaaaaaaaaa	0.366													6	7	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120		TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr16:29113498delT	ENST00000564580.1	+	0	1360																											AGGAGGTGGAttttttttttc	0.542													4	7	---	---	---	---					
OMG	4974	broad.mit.edu	37	17	29623319	29623321	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr17:29623319_29623321delAGA	ENST00000247271.4	-	2	290_292	c.29_31delTCT	c.(28-33)cgc>c	p.LC10del	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	10					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		ATGAACAGGCAGAGAGACATTTT	0.414													28	74	---	---	---	---					
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr18:55992284_55992286delTCC	ENST00000456986.1	+	9	807_809	c.207_209delTCC	c.(205-210)ctt>ct	p.LP69del	NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	190	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498													7	285	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr19:50155567_50155569delAAG	ENST00000360565.3	+	7	2045_2047	c.1921_1923delAAG	c.(1921-1923)del	p.K645del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	645	Arg-rich.|Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744													2	4	---	---	---	---					
SUN5	140732	broad.mit.edu	37	20	31592107	31592107	+	Frame_Shift_Del	DEL	G	G	-	rs146501259		TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chr20:31592107delG	ENST00000356173.3	-	1	132	c.40delC	c.(40-42)tafs	p.L15fs	SUN5_ENST00000375523.3_Frame_Shift_Del_p.L15fs|SUN5_ENST00000375519.2_Frame_Shift_Del_p.L15fs	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	15					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCTTCGAGTAGGGCGCCTGGG	0.592													2	4	---	---	---	---					
SLC6A14	11254	broad.mit.edu	37	X	115576089	115576094	+	In_Frame_Del	DEL	AGTGGC	AGTGGC	-			TCGA-69-8253-01A-11D-2284-08	TCGA-69-8253-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5a8d8a-4915-47f1-8875-0490620e2ffb	f59177e0-d7a4-48a2-8ca5-f25693488fc7	g.chrX:115576089_115576094delAGTGGC	ENST00000371900.4	+	6	748_753	c.660_665delAGTGGC	c.(658-666)aag>aa	p.KVA220del		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	220					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GTTTCAGTAAAGTGGCGCTCCAACGG	0.379													9	65	---	---	---	---