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
TRAV21	28662	broad.mit.edu	37	14	22521135	22521135	+	RNA	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:22521135C>T	ENST00000390449.3	+	0	163																											TTTACAACCTCCAGTGGTTTA	0.488000													15	5					0	0	0.000422831	0	0
C4A	720	broad.mit.edu	37	6	31962439	31962439	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:31962439C>T	ENST00000428956.2	+	21	2841	c.2757C>T	c.(2755-2757)ttC>ttT	p.F919F	C4A_ENST00000498271.1_Silent_p.F919F	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		GAGGGTCCTTCGAATTCCCTG	0.627000													16	27					0	0	0.000586117	0	0
TENM1	10178	broad.mit.edu	37	X	123587288	123587288	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:123587288G>A	ENST00000422452.2	-	23	4066	c.4003C>T	c.(4003-4005)Cgc>Tgc	p.R1335C	TENM1_ENST00000371130.3_Missense_Mutation_p.R1328C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCAATTTTGCGAATCATAGTC	0.423000													31	8					0	0	0.000339439	0	0
ATP10D	57205	broad.mit.edu	37	4	47548647	47548647	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:47548647G>A	ENST00000273859.3	+	10	1672	c.1403G>A	c.(1402-1404)aGg>aAg	p.R468K	ATP10D_ENST00000504445.1_Missense_Mutation_p.R453K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	468					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACAGCCAGGAGGTTGGAGTCC	0.458000													9	42					0	0	3.86212e-05	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629423	1629423	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:1629423C>T	ENST00000399685.1	-	1	270	c.193G>A	c.(193-195)Ggg>Agg	p.G65R		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	65	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCACAGACCCCCTTGGAGCCC	0.672000													15	34					0	0	0.000422831	0	0
CFAP54	144535	broad.mit.edu	37	12	97136223	97136223	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:97136223G>A	ENST00000524981.3	+	19	2431	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K				Q6ZTY8	CL063_HUMAN		785										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTAGGTCACTGAAAATAAAGA	0.348000													13	20					0	0	0.000308642	0	0
SLC24A1	9187	broad.mit.edu	37	15	65946287	65946287	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr15:65946287C>T	ENST00000261892.6	+	10	3457	c.3170C>T	c.(3169-3171)tCt>tTt	p.S1057F	SLC24A1_ENST00000544319.2_Missense_Mutation_p.S943F|SLC24A1_ENST00000546330.1_Missense_Mutation_p.S1039F|SLC24A1_ENST00000339868.6_Missense_Mutation_p.S1039F|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000399033.4_Missense_Mutation_p.S1027F|SLC24A1_ENST00000537259.1_Intron	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	1057					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TTTGTGATCTCTTCAATTGCG	0.383000													39	124					0	0	0.000319135	0	0
CDRT1	374286	broad.mit.edu	37	17	15519000	15519000	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:15519000G>T	ENST00000455584.2	-	8	1602	c.1559C>A	c.(1558-1560)gCc>gAc	p.A520D	CDRT1_ENST00000395906.3_Missense_Mutation_p.A210D																							ATTTTCTGGGGCTTTGGACAA	0.502000													8	9					5.18039e-06	0.000109132	0.000157383	1	0
EXOSC6	118460	broad.mit.edu	37	16	70285795	70285795	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:70285795C>T	ENST00000435634.1	-	1	38	c.9G>A	c.(7-9)ggG>ggA	p.G3G		NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6	3					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	RNA binding										GGCGGTGATCCCCAGGCATGG	0.697000											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	1					0	0	3.59834e-05	0	0
CHML	1122	broad.mit.edu	37	1	241797475	241797475	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:241797475G>A	ENST00000366553.1	-	1	1757	c.1594C>T	c.(1594-1596)Ccg>Tcg	p.P532S	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	532					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCAGTATACGGAGTGAATAAT	0.383000													5	34					0	0	1.23904e-05	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128684	68128684	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:68128684C>T	ENST00000585558.1	+	4	949	c.561C>T	c.(559-561)ctC>ctT	p.L187L	KCNJ16_ENST00000392670.1_Silent_p.L152L|KCNJ16_ENST00000586462.1_Silent_p.L191L|KCNJ16_ENST00000283936.1_Silent_p.L152L|KCNJ16_ENST00000589377.1_Silent_p.L152L|KCNJ16_ENST00000392671.1_Silent_p.L152L			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	152					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGGTGATCCTCCAGTCCATCT	0.468000													7	38					0	0	0.000157383	0	0
COL4A4	1286	broad.mit.edu	37	2	227886863	227886863	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:227886863C>T	ENST00000396625.3	-	44	4324	c.4117G>A	c.(4117-4119)Gat>Aat	p.D1373N	COL4A4_ENST00000329662.7_Missense_Mutation_p.D1370N	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1373	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGACAGTCATCCACATCTGCA	0.572000													21	65					0	0	0.000229342	0	0
SLC18A2	6571	broad.mit.edu	37	10	119027222	119027222	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:119027222G>A	ENST00000298472.5	+	13	1304	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	387					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCATAGCTCCGAACTTTGGAG	0.383000													9	22					0	0	0.00010058	0	0
CLPTM1	1209	broad.mit.edu	37	19	45489774	45489774	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:45489774A>G	ENST00000541297.2	+	7	1157	c.692A>G	c.(691-693)aAc>aGc	p.N231S	CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000337392.5_Missense_Mutation_p.N245S|CLPTM1_ENST00000546079.1_Missense_Mutation_p.N143S			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	245					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ATCACCATCAACATCGTGGAC	0.617000													47	100					0	0	0.000147903	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798364	185798364	+	Missense_Mutation	SNP	G	G	A	rs145158210		TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:185798364G>A	ENST00000302277.6	+	3	884	c.290G>A	c.(289-291)cGa>cAa	p.R97Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	97						intracellular	zinc ion binding	p.R97Q(1)		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						GAATTTGCTCGAAATGTAGCA	0.368000													26	21					0	0	0.000184323	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751136	62751136	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:62751136C>T	ENST00000377871.3	-	3	767	c.501G>A	c.(499-501)ttG>ttA	p.L167L	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Silent_p.L167L|SLC22A6_ENST00000458333.2_Silent_p.L167L|SLC22A6_ENST00000421062.2_Silent_p.L167L	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	167					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCAGGTAGTTCAAGATGAGTA	0.637000													6	14					0	0	0.000157383	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034594	52034594	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:52034594C>T	ENST00000346477.3	-	2	315	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIGLEC6_ENST00000436458.1_Missense_Mutation_p.E47K|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.E83K|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.E83K|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.E83K|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.E83K	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	83	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCACTTCTTCGTCTGGGTCG	0.582000													12	23					0	0	6.40141e-05	0	0
AURKA	6790	broad.mit.edu	37	20	54956548	54956548	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:54956548C>T	ENST00000395909.4	-	8	1211	c.646G>A	c.(646-648)Gga>Aga	p.G216R	AURKA_ENST00000395915.3_Missense_Mutation_p.G216R|AURKA_ENST00000371356.2_Missense_Mutation_p.G216R|AURKA_ENST00000395913.3_Missense_Mutation_p.G216R|AURKA_ENST00000395911.1_Missense_Mutation_p.G216R|AURKA_ENST00000312783.6_Missense_Mutation_p.G216R|AURKA_ENST00000395907.1_Missense_Mutation_p.G216R|AURKA_ENST00000395914.1_Missense_Mutation_p.G216R|AURKA_ENST00000347343.2_Missense_Mutation_p.G216R	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	216	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TAAACTGTTCCAAGTGGTGCA	0.363000													25	26					0	0	0.00047179	0	0
KIF21B	23046	broad.mit.edu	37	1	200974494	200974494	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:200974494G>A	ENST00000332129.2	-	5	990	c.674C>T	c.(673-675)tCc>tTc	p.S225F	KIF21B_ENST00000360529.5_Missense_Mutation_p.S225F|KIF21B_ENST00000461742.2_Missense_Mutation_p.S225F|KIF21B_ENST00000422435.2_Missense_Mutation_p.S225F	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	225	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATGGCGTGGGAGCGTGAGCT	0.642000													13	14					0	0	0.000422831	0	0
PGM5	5239	broad.mit.edu	37	9	70999394	70999394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:70999394C>T	ENST00000396396.1	+	3	734	c.505C>T	c.(505-507)Cga>Tga	p.R169*	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Nonsense_Mutation_p.R169*	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	169					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TCCTGATCTCCGAATCGACCT	0.378000													20	14					0	0	0.000132079	0	0
ADAM21	8747	broad.mit.edu	37	14	70925826	70925826	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:70925826G>A	ENST00000603540.1	+	2	1868	c.1610G>A	c.(1609-1611)gGa>gAa	p.G537E	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.G537E	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	537	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATTCTCAGGGAAACCGTTTT	0.383000													5	19					0	0	3.59834e-05	0	0
MARCO	8685	broad.mit.edu	37	2	119752009	119752009	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:119752009G>A	ENST00000541757.1	+	18	1622	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	MARCO_ENST00000327097.4_Silent_p.E492E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	492	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.E492D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGCACGGAGAGTACCCTGT	0.557000													9	6					0	0	0.000442599	0	0
ZNF182	7569	broad.mit.edu	37	X	47837101	47837101	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:47837101T>C	ENST00000396965.1	-	7	735	c.385A>G	c.(385-387)Att>Gtt	p.I129V	ZNF182_ENST00000376943.3_Missense_Mutation_p.I110V|ZNF182_ENST00000305127.6_Missense_Mutation_p.I129V	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTGGTGATAATTGTTTTCTTG	0.393000													20	9					0	0	0.000132079	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654137	61654137	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:61654137C>T	ENST00000397985.2	+	7	1006	c.750C>T	c.(748-750)ttC>ttT	p.F250F	SERPINB8_ENST00000542677.1_Silent_p.F68F|SERPINB8_ENST00000353706.2_Silent_p.F250F|SERPINB8_ENST00000493661.1_Intron	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	250					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				ATGAGAAATTCAAAGCCTGGA	0.373000													68	79					0	0	0.000147903	0	0
BCAS1	8537	broad.mit.edu	37	20	52601880	52601880	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:52601880G>A	ENST00000395961.3	-	7	1252	c.1086C>T	c.(1084-1086)acC>acT	p.T362T	BCAS1_ENST00000371440.3_Silent_p.T407T|BCAS1_ENST00000371435.2_Silent_p.T362T|BCAS1_ENST00000434986.2_Silent_p.T120T	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	362						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ATTTCTCCTTGGTGCCTTCCT	0.547000													25	45					0	0	0.000227799	0	0
TANC1	85461	broad.mit.edu	37	2	160084340	160084340	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:160084340T>A	ENST00000263635.6	+	25	4151	c.3914T>A	c.(3913-3915)aTg>aAg	p.M1305K	TANC1_ENST00000454300.1_Missense_Mutation_p.M1199K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1305						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAAGGGAAAATGAAAGAGGCA	0.433000													4	12					0	0	3.59834e-05	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366747	7366747	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:7366747C>T	ENST00000311403.4	-	4	1893	c.1554G>A	c.(1552-1554)aaG>aaA	p.K518K	ZBTB4_ENST00000380599.4_Silent_p.K518K	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	518	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		ATTCTCGTTTCTTGGGTGGCC	0.667000													4	1					0	0	0.00024832	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634947	6634947	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:6634947G>A	ENST00000333172.6	+	3	948	c.755G>A	c.(754-756)gGc>gAc	p.G252D	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.G252D	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	252					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCCCAGGTGGGCGATGAGAGG	0.612000													7	12					0	0	0.000157383	0	0
KSR2	283455	broad.mit.edu	37	12	117993065	117993065	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:117993065G>A	ENST00000425217.1	-	9	1394	c.1340C>T	c.(1339-1341)cCg>cTg	p.P447L	KSR2_ENST00000302438.5_Missense_Mutation_p.P173L|KSR2_ENST00000339824.5_Missense_Mutation_p.P476L|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	476					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATGTCACACGGAACGGACTC	0.488000													5	6					0	0	3.59834e-05	0	0
FBLN1	2192	broad.mit.edu	37	22	45929726	45929726	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:45929726G>A	ENST00000348697.2	+	7	879	c.732G>A	c.(730-732)cgG>cgA	p.R244R	FBLN1_ENST00000402984.3_Silent_p.R282R|FBLN1_ENST00000340923.5_Silent_p.R244R|FBLN1_ENST00000327858.6_Silent_p.R244R|FBLN1_ENST00000262722.7_Silent_p.R244R|FBLN1_ENST00000442170.2_Silent_p.R244R			P23142	FBLN1_HUMAN	fibulin 1	244	EGF-like 2; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTGCCAGCGGGACAGCAGCT	0.572000													20	58					0	0	0.000175454	0	0
PDE4C	5143	broad.mit.edu	37	19	18322646	18322646	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:18322646C>T	ENST00000355502.3	-	18	2585	c.1714G>A	c.(1714-1716)Gga>Aga	p.G572R	PDE4C_ENST00000539010.1_Missense_Mutation_p.G341R|PDE4C_ENST00000594617.2_Missense_Mutation_p.G572R|PDE4C_ENST00000594465.2_Missense_Mutation_p.G572R|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000262805.11_Missense_Mutation_p.G540R|PDE4C_ENST00000447275.2_Missense_Mutation_p.G466R			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	572					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TCGCGGTCTCCCTGCTGGAAG	0.627000													9	24					0	0	3.86212e-05	0	0
NSUN7	79730	broad.mit.edu	37	4	40763240	40763240	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:40763240G>A	ENST00000381782.2	+	4	905	c.410G>A	c.(409-411)aGa>aAa	p.R137K	NSUN7_ENST00000316607.5_Missense_Mutation_p.R137K	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TTCCAAGATAGAAAATTTCAA	0.313000													53	73					0	0	0.000147903	0	0
FLNB	2317	broad.mit.edu	37	3	58107012	58107012	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:58107012G>A	ENST00000357272.4	+	20	3073	c.2908G>A	c.(2908-2910)Ggg>Agg	p.G970R	FLNB_ENST00000429972.2_Missense_Mutation_p.G970R|FLNB_ENST00000493452.1_Missense_Mutation_p.G801R|FLNB_ENST00000419752.2_Missense_Mutation_p.G801R|FLNB_ENST00000358537.3_Missense_Mutation_p.G970R|FLNB_ENST00000348383.5_Missense_Mutation_p.G970R|FLNB_ENST00000490882.1_Missense_Mutation_p.G970R|FLNB_ENST00000295956.4_Missense_Mutation_p.G970R			O75369	FLNB_HUMAN	filamin B, beta	970					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGATACCAGGGGGGCAGGAGG	0.577000													12	47					0	0	0.000219431	0	0
MS4A12	54860	broad.mit.edu	37	11	60265037	60265037	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:60265037G>A	ENST00000016913.4	+	2	303	c.246G>A	c.(244-246)atG>atA	p.M82I	MS4A12_ENST00000525951.1_3'UTR|MS4A12_ENST00000537076.1_Missense_Mutation_p.M82I	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	82						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CAGCAGTAATGAACTTTAAAG	0.393000													11	19					0	0	3.86212e-05	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461146	48461146	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:48461146G>A	ENST00000358536.4	-	11	2818	c.2549C>T	c.(2548-2550)cCc>cTc	p.P850L	PLXNB1_ENST00000296440.6_Missense_Mutation_p.P850L|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	850					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCGCCTCGGGCAGCTCGCC	0.687000													4	6					0	0	0.00024832	0	0
ZFP41	286128	broad.mit.edu	37	8	144332304	144332304	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:144332304G>A	ENST00000330701.4	+	2	660	c.291G>A	c.(289-291)aaG>aaA	p.K97K	ZFP41_ENST00000522452.1_Silent_p.K97K|ZFP41_ENST00000520584.1_Silent_p.K97K	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	97					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGATCTTTAAGCACAAGACAG	0.527000													29	22					0	0	0.000147802	0	0
PON1	5444	broad.mit.edu	37	7	94947640	94947640	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:94947640C>T	ENST00000222381.3	-	2	371	c.140G>A	c.(139-141)gGa>gAa	p.G47E	PON1_ENST00000542556.1_Intron	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	47					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CATACCGATTCCTTTAACTAA	0.388000													14	59					0	0	0.000422831	0	0
KIF25	3834	broad.mit.edu	37	6	168439243	168439243	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:168439243G>A	ENST00000443060.2	+	6	719	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	KIF25_ENST00000351261.3_Missense_Mutation_p.E110K|KIF25_ENST00000354419.2_Missense_Mutation_p.E110K			Q9UIL4	KIF25_HUMAN	kinesin family member 25	110	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCTCATTTTGGAAAATACCTC	0.438000													6	19					0	0	0.000157383	0	0
ALB	213	broad.mit.edu	37	4	74279343	74279343	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:74279343C>T	ENST00000295897.4	+	8	1139	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	ALB_ENST00000509063.1_Silent_p.F350F|ALB_ENST00000503124.1_Silent_p.F200F|ALB_ENST00000401494.3_Silent_p.F235F|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Silent_p.F158F	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	350	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGGATGTCTTCCTGGGCATGT	0.398000													9	33					0	0	0.000274275	0	0
WFIKKN1	117166	broad.mit.edu	37	16	683313	683313	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:683313G>A	ENST00000319070.2	+	2	1225	c.903G>A	c.(901-903)ccG>ccA	p.P301P		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	301	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				AGTGCCTGCCGGATGTGCAGG	0.716000													5	1					0	0	3.59834e-05	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411699	39411699	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:39411699C>T	ENST00000394008.1	+	1	64	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	21						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGGAAGCCCACCACTGTG	0.617000													4	10					0	0	0.00024832	0	0
WISP1	8840	broad.mit.edu	37	8	134239694	134239694	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:134239694C>T	ENST00000250160.6	+	5	951	c.845C>T	c.(844-846)tCc>tTc	p.S282F	WISP1_ENST00000519433.1_Missense_Mutation_p.S37F|WISP1_ENST00000377863.2_Missense_Mutation_p.S110F|WISP1_ENST00000517423.1_Silent_p.I130I|WISP1_ENST00000220856.6_Missense_Mutation_p.S195F	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	282	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|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)			CCAGAGGCATCCATGAACTTC	0.517000													20	42					0	0	0.000229342	0	0
IGHV3-74	28408	broad.mit.edu	37	14	107219119	107219119	+	RNA	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:107219119C>T	ENST00000424969.2	-	0	246																											CCAGCTCAGCCCAAACTCCAT	0.512000													11	16					0	0	0.000219431	0	0
PHTF1	10745	broad.mit.edu	37	1	114254404	114254404	+	Silent	SNP	C	C	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:114254404C>A	ENST00000369604.1	-	10	1494	c.1011G>T	c.(1009-1011)ctG>ctT	p.L337L	PHTF1_ENST00000393357.2_Silent_p.L337L|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000357783.2_Silent_p.L337L|PHTF1_ENST00000369596.2_Silent_p.L284L|PHTF1_ENST00000369598.1_Silent_p.L292L|PHTF1_ENST00000369600.1_Silent_p.L284L|PHTF1_ENST00000447664.2_3'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	337						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGATTCAGCCAGACTATCTG	0.368000													5	45					0.000157383	0.00328931	0.000157383	1	0
OR13H1	347468	broad.mit.edu	37	X	130678510	130678510	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:130678510C>T	ENST00000338616.3	+	1	561	c.463C>T	c.(463-465)Ctc>Ttc	p.L155F		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					ATCACTTGTGCTCACTGCCAT	0.502000													28	9					0	0	0.000339439	0	0
DMBT1	1755	broad.mit.edu	37	10	124358388	124358388	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:124358388G>A	ENST00000368909.3	+	26	3161	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	DMBT1_ENST00000368956.2_Missense_Mutation_p.D520N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D520N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000338354.3_Missense_Mutation_p.D1019N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1019	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D1019N(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCGTGTGCGATGACAGCTG	0.602000													28	61					0	0	0.000409698	0	0
SIM1	6492	broad.mit.edu	37	6	100841753	100841753	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:100841753G>A	ENST00000369208.3	-	11	1962	c.1180C>T	c.(1180-1182)Cac>Tac	p.H394Y	SIM1_ENST00000262901.4_Missense_Mutation_p.H394Y			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	394	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTTTCTGTGTGAAATCCCGAA	0.478000													11	10					0	0	0.000151284	0	0
AGBL1	123624	broad.mit.edu	37	15	86801226	86801226	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr15:86801226G>A	ENST00000441037.2	+	8	890	c.795G>A	c.(793-795)gtG>gtA	p.V265V	AGBL1_ENST00000421325.2_Silent_p.V265V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	265	Asp-rich.				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGATGAAGTGGACAAAGACT	0.413000													12	60					0	0	9.7654e-05	0	0
PAK7	57144	broad.mit.edu	37	20	9523346	9523346	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:9523346T>G	ENST00000378429.3	-	10	2437	c.1891A>C	c.(1891-1893)Atc>Ctc	p.I631L	PAK7_ENST00000353224.5_Missense_Mutation_p.I631L|PAK7_ENST00000378423.1_Missense_Mutation_p.I631L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	631	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCACCATGATCCCGAGGGAC	0.517000													5	32					0	0	1.23904e-05	0	0
BAI3	577	broad.mit.edu	37	6	70049369	70049369	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:70049369C>T	ENST00000370598.1	+	26	4253	c.3432C>T	c.(3430-3432)gtC>gtT	p.V1144V	BAI3_ENST00000546190.1_Silent_p.V108V|BAI3_ENST00000238918.8_Silent_p.V350V	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1144					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTGTTATAGTCATGGTCCACT	0.403000													20	49					0	0	0.000175454	0	0
LRTM1	57408	broad.mit.edu	37	3	54958924	54958924	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:54958924G>A	ENST00000273286.5	-	2	488	c.326C>T	c.(325-327)tCa>tTa	p.S109L	CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.S33L|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	109						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GGAAAGGAGTGAATTCTGGGT	0.468000													9	19					0	0	0.000442599	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55108195	55108195	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:55108195C>T	ENST00000474759.1	+	38	3286	c.3238C>T	c.(3238-3240)Ctt>Ttt	p.L1080F	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L986F|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L1080F|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L1080F	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1080						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GACAGTCCTCCTTCTGCTCCC	0.507000													21	33					0	0	9.22233e-05	0	0
ZNF229	7772	broad.mit.edu	37	19	44933745	44933745	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:44933745G>A	ENST00000291187.4	-	6	1515	c.1193C>T	c.(1192-1194)cCa>cTa	p.P398L	ZNF229_ENST00000588931.1_Missense_Mutation_p.P404L|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GCATTTATATGGTTTCTCTCC	0.522000													18	29					0	0	9.7654e-05	0	0
OR1F1	4992	broad.mit.edu	37	16	3254843	3254843	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:3254843C>T	ENST00000304646.2	+	1	597	c.597C>T	c.(595-597)atC>atT	p.I199I	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGGTCATAATCCTTAGTGAGG	0.493000													19	22					0	0	0.000132079	0	0
AP2M1	1173	broad.mit.edu	37	3	183900603	183900603	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:183900603C>T	ENST00000382456.3	+	10	1428	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	AP2M1_ENST00000411763.2_Missense_Mutation_p.P399S|AP2M1_ENST00000292807.5_Missense_Mutation_p.P374S|AP2M1_ENST00000439647.1_Missense_Mutation_p.P372S|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000461733.1_3'UTR	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	374	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGAGCTTCTGCCTACCAACGA	0.552000													10	18					0	0	6.40141e-05	0	0
TTC21A	199223	broad.mit.edu	37	3	39162558	39162558	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:39162558C>T	ENST00000301819.6	+	9	1172	c.995C>T	c.(994-996)tCg>tTg	p.S332L	TTC21A_ENST00000431162.2_Missense_Mutation_p.S332L|TTC21A_ENST00000440121.1_Missense_Mutation_p.S283L	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	332							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCCACCCCCTCGTATGTCCAT	0.512000													10	14					0	0	3.86212e-05	0	0
SPATA13	221178	broad.mit.edu	37	13	24823957	24823957	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr13:24823957G>A	ENST00000424834.2	+	5	2469	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	SPATA13_ENST00000382095.4_Missense_Mutation_p.E41K|SPATA13_ENST00000382108.3_Missense_Mutation_p.E666K			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	41					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCAGACGGAGGAACTGGACAA	0.567000													13	16					0	0	0.000308642	0	0
E4F1	1877	broad.mit.edu	37	16	2283184	2283184	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:2283184G>A	ENST00000301727.4	+	7	1104	c.1056_splice	c.e7+1	p.E352_splice	E4F1_ENST00000565090.1_Splice_Site_p.E352_splice|E4F1_ENST00000564139.1_Splice_Site_p.E352_splice	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	352					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TGGCCCCAGAGGTGGGGGCGA	0.657000													6	21					0	0	8.12818e-05	0	0
MCM7	4176	broad.mit.edu	37	7	99697359	99697359	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:99697359C>T	ENST00000303887.5	-	3	774	c.129G>A	c.(127-129)cgG>cgA	p.R43R	MCM7_ENST00000343023.6_Silent_p.R43R|MCM7_ENST00000354230.3_5'UTR	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	43					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCACCTGTTCCCGATGAGCCA	0.532000													10	24					0	0	6.40141e-05	0	0
EPHB3	2049	broad.mit.edu	37	3	184297636	184297636	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:184297636C>T	ENST00000330394.2	+	11	2538	c.2086C>T	c.(2086-2088)Cgg>Tgg	p.R696W	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	696	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CAATATAATCCGGCTCGAGGG	0.582000													14	22					0	0	0.000219431	0	0
SUN5	140732	broad.mit.edu	37	20	31577456	31577456	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:31577456C>T	ENST00000356173.3	-	9	675	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	SUN5_ENST00000375523.3_Missense_Mutation_p.E170K	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	195					spermatogenesis			p.E195*(1)		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						TCTGGCTTTTCGATGTAATCT	0.488000													9	21					0	0	0.00010058	0	0
TENM4	26011	broad.mit.edu	37	11	78413143	78413143	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:78413143G>A	ENST00000278550.7	-	28	4977	c.4515C>T	c.(4513-4515)ctC>ctT	p.L1505L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CCCCAGCAACGAGTGAGATCT	0.473000													11	11					0	0	3.86212e-05	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828117	43828117	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:43828117T>C	ENST00000377564.3	+	9	1766	c.1373T>C	c.(1372-1374)tTc>tCc	p.F458S		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	458	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TCTGTATCCTTCTCTGCCAAG	0.453000													28	20					0	0	0.000339439	0	0
OR10A6	390093	broad.mit.edu	37	11	7949332	7949332	+	Missense_Mutation	SNP	C	C	T	rs143603778		TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:7949332C>T	ENST00000309838.2	-	1	877	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293Q(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCACTATTTCGCAAACTGTA	0.418000													16	32					0	0	0.000566183	0	0
UTP20	27340	broad.mit.edu	37	12	101755832	101755832	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:101755832G>A	ENST00000261637.4	+	44	5958	c.5784G>A	c.(5782-5784)atG>atA	p.M1928I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1928					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TAGATATAATGATTGAGGTAA	0.378000													30	45					0	0	0.000279167	0	0
TJP1	7082	broad.mit.edu	37	15	30011141	30011141	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr15:30011141G>T	ENST00000346128.6	-	21	3679	c.3205C>A	c.(3205-3207)Cag>Aag	p.Q1069K	TJP1_ENST00000545208.2_Missense_Mutation_p.Q989K|TJP1_ENST00000400011.2_Missense_Mutation_p.Q993K|TJP1_ENST00000356107.6_Missense_Mutation_p.Q1069K	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1069					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CGAGAAAACTGGTCCGTATAG	0.473000													6	78					0.000157383	0.00328931	0.000157383	1	0
PLAGL1	5325	broad.mit.edu	37	6	144263496	144263496	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:144263496C>T	ENST00000360537.2	-	5	2370	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	PLAGL1_ENST00000416623.1_Missense_Mutation_p.E153K|PLAGL1_ENST00000367572.1_Missense_Mutation_p.E101K|PLAGL1_ENST00000354765.2_Missense_Mutation_p.E153K|PLAGL1_ENST00000392307.1_Missense_Mutation_p.E101K|PLAGL1_ENST00000444202.1_Missense_Mutation_p.E153K|PLAGL1_ENST00000367571.1_Missense_Mutation_p.E153K|PLAGL1_ENST00000437412.1_Missense_Mutation_p.E101K|PLAGL1_ENST00000429150.1_Missense_Mutation_p.E153K|PLAGL1_ENST00000392309.1_Missense_Mutation_p.E153K			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	153					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		TGCTTCTTTTCCTTGGTTCCG	0.592000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	70					0	0	9.22233e-05	0	0
ZNF496	84838	broad.mit.edu	37	1	247464421	247464421	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:247464421G>A	ENST00000294753.4	-	9	1628	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	ZNF496_ENST00000366498.2_Silent_p.S424S|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	388					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGCTCCGGTGGGAGGCGGGGA	0.632000													6	18					0	0	3.59834e-05	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646597	4646597	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:4646597G>A	ENST00000433935.1	+	6	1201		c.e6-1		ZMYND15_ENST00000269289.6_Splice_Site|ZMYND15_ENST00000573751.2_Splice_Site|ZMYND15_ENST00000592813.1_Splice_Site	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15								zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TCCTTCTCCAGAGGTGACCAG	0.542000													24	32					0	0	0.000147802	0	0
EFNA4	1945	broad.mit.edu	37	1	155041374	155041374	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:155041374C>T	ENST00000368409.3	+	4	608	c.515C>T	c.(514-516)aCa>aTa	p.T172I	EFNA3_ENST00000505139.1_Intron|EFNA3_ENST00000556931.1_Intron|EFNA4_ENST00000359751.4_Intron|EFNA4_ENST00000427683.2_Intron	NM_005227.2	NP_005218.1			ephrin-A4											breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAGAGTGGCACATCAGGGTGG	0.577000													4	9					0	0	0.00024832	0	0
CD22	933	broad.mit.edu	37	19	35835825	35835825	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:35835825G>A	ENST00000085219.5	+	10	2195	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q	CD22_ENST00000341773.6_Missense_Mutation_p.R533Q|CD22_ENST00000419549.2_Missense_Mutation_p.R538Q|CD22_ENST00000594250.1_Missense_Mutation_p.R533Q|CD22_ENST00000536635.2_Missense_Mutation_p.R622Q|CD22_ENST00000544992.2_Missense_Mutation_p.R710Q|CD22_ENST00000270311.6_Missense_Mutation_p.R590Q	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	710					cell adhesion		protein binding|sugar binding	p.R710Q(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AAGCTCCAGCGACGGTGAGCT	0.642000													16	28					0	0	0.000308642	0	0
MAST2	23139	broad.mit.edu	37	1	46501426	46501426	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:46501426G>A	ENST00000361297.2	+	29	5368	c.5085G>A	c.(5083-5085)aaG>aaA	p.K1695K	MAST2_ENST00000372009.2_Silent_p.K1505K|MAST2_ENST00000372008.1_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1695					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCCAGCCTAAGAACCTGTCTC	0.592000													9	12					0	0	0.000442599	0	0
DNAH3	55567	broad.mit.edu	37	16	21080788	21080788	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:21080788C>T	ENST00000261383.3	-	23	3328	c.3329G>A	c.(3328-3330)gGg>gAg	p.G1110E	DNAH3_ENST00000415178.1_Missense_Mutation_p.G1110E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1110	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAATTTCCTCCCCTCTTCTGG	0.428000													17	31					0	0	0.000566183	0	0
PSG5	5673	broad.mit.edu	37	19	43679501	43679501	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:43679501C>T	ENST00000404580.1	-	4	918	c.830G>A	c.(829-831)gGg>gAg	p.G277E	PSG5_ENST00000342951.6_Missense_Mutation_p.G277E|PSG5_ENST00000407356.1_Missense_Mutation_p.G277E|PSG5_ENST00000366175.3_Missense_Mutation_p.G277E|PSG5_ENST00000599812.1_Missense_Mutation_p.G370E|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	277	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTGAAACTTCCCATTAATTGT	0.438000													34	145					0	0	0.00058488	0	0
DAB1	1600	broad.mit.edu	37	1	57491659	57491659	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:57491659G>C	ENST00000371236.2	-	10	1044	c.781C>G	c.(781-783)Ccc>Gcc	p.P261A	DAB1_ENST00000439789.2_Missense_Mutation_p.P175A|DAB1_ENST00000414851.2_Missense_Mutation_p.P243A|DAB1_ENST00000371234.4_Missense_Mutation_p.P261A|DAB1_ENST00000371231.1_Missense_Mutation_p.P294A|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.P259A			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	294					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTACGGGGGGAGAGGTTATA	0.463000													15	47					0	0	0.000308642	0	0
ITPR1	3708	broad.mit.edu	37	3	4853114	4853114	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:4853114G>A	ENST00000354582.6	+	55	7743	c.7393G>A	c.(7393-7395)Gat>Aat	p.D2465N	ITPR1_ENST00000443694.2_Missense_Mutation_p.D2465N|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Missense_Mutation_p.D2417N|ITPR1_ENST00000423119.2_Missense_Mutation_p.D2432N|ITPR1_ENST00000357086.4_Missense_Mutation_p.D2432N|ITPR1_ENST00000544951.1_Missense_Mutation_p.D443N|ITPR1_ENST00000302640.8_Missense_Mutation_p.D2465N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2480					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTTGGAAGTAGATAGGCTGCC	0.403000													16	45					0	0	9.7654e-05	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634946	6634946	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:6634946G>A	ENST00000333172.6	+	3	947	c.754G>A	c.(754-756)Ggc>Agc	p.G252S	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.G252S	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	252					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGCCCAGGTGGGCGATGAGAG	0.612000													7	14					0	0	0.000157383	0	0
KAT6B	23522	broad.mit.edu	37	10	76784907	76784907	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:76784907C>T	ENST00000287239.4	+	17	4053	c.3564C>T	c.(3562-3564)gtC>gtT	p.V1188V	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Silent_p.V896V|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372724.1_Silent_p.V896V|KAT6B_ENST00000372711.1_Silent_p.V1005V|KAT6B_ENST00000372714.1_Silent_p.V896V	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1188					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GGAAGCCAGTCCTGAGAAAAG	0.473000													8	14					0	0	0.000274275	0	0
LRRC7	57554	broad.mit.edu	37	1	70541791	70541791	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:70541791C>T	ENST00000310961.5	+	24	4440	c.4022C>T	c.(4021-4023)tCc>tTc	p.S1341F	LRRC7_ENST00000035383.5_Missense_Mutation_p.S1383F|LRRC7_ENST00000415775.2_Missense_Mutation_p.S667F			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1383						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTGATGGGGTCCCAAAGCCTT	0.478000													7	25					0	0	0.000442599	0	0
TAF4B	6875	broad.mit.edu	37	18	23872342	23872342	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:23872342C>T	ENST00000269142.5	+	8	2721	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	TAF4B_ENST00000578121.1_Missense_Mutation_p.P580S|TAF4B_ENST00000400466.2_Missense_Mutation_p.P575S	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	575					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCAGTTTCCTCCAGGTAGATG	0.423000													19	45					0	0	0.000295444	0	0
HOXA2	3199	broad.mit.edu	37	7	27140752	27140752	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:27140752C>T	ENST00000222718.5	-	2	1034	c.724G>A	c.(724-726)Gcc>Acc	p.A242T		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	242						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TCCAGAAGGGCCCCAGAGACG	0.527000													15	17					0	0	0.000219431	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55294979	55294979	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:55294979G>A	ENST00000336077.6	+	7	899	c.859G>A	c.(859-861)Gcg>Acg	p.A287T	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A313T|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.A287T|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	287					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AAACAGAACAGCGAATAGCGA	0.522000													19	32					0	0	0.000295444	0	0
GLI3	2737	broad.mit.edu	37	7	42004783	42004783	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:42004783G>A	ENST00000395925.3	-	15	3972	c.3888C>T	c.(3886-3888)ggC>ggT	p.G1296G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1296					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTACCGGCAGGCCGAAATTCA	0.637000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				9	17					0	0	0.000274275	0	0
EGFR	1956	broad.mit.edu	37	7	55211060	55211060	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:55211060G>T	ENST00000275493.2	+	3	480	c.303G>T	c.(301-303)ttG>ttT	p.L101F	EGFR_ENST00000420316.2_Missense_Mutation_p.L101F|EGFR_ENST00000344576.2_Missense_Mutation_p.L101F|EGFR_ENST00000442591.1_Missense_Mutation_p.L101F|EGFR_ENST00000455089.1_Missense_Mutation_p.L101F|EGFR_ENST00000342916.3_Missense_Mutation_p.L101F|EGFR_ENST00000454757.2_Missense_Mutation_p.L48F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	101					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAATTCCTTTGGAAAACCTGC	0.418000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			33	57					4.14481e-20	8.82522e-19	0.000228196	1	0
OR4N5	390437	broad.mit.edu	37	14	20612593	20612593	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:20612593G>A	ENST00000333629.1	+	1	699	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K233R(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTGAAGGAAAGAGCAAGGCTA	0.498000													15	10					0	0	0.000219431	0	0
MYH15	22989	broad.mit.edu	37	3	108129532	108129532	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:108129532C>T	ENST00000273353.3	-	32	4509	c.4453G>A	c.(4453-4455)Gaa>Aaa	p.E1485K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1485						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCCTGAACTTCCTTCTGAGAG	0.577000													8	21					0	0	0.000274275	0	0
AWAT2	158835	broad.mit.edu	37	X	69261693	69261693	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:69261693C>T	ENST00000276101.3	-	7	972	c.967G>A	c.(967-969)Ggt>Agt	p.G323S		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	323						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						TCTGAGATACCAAACTTGGTC	0.483000													15	2					0	0	7.07596e-05	0	0
AKAP11	11215	broad.mit.edu	37	13	42876436	42876436	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr13:42876436T>C	ENST00000025301.2	+	8	3729	c.3554T>C	c.(3553-3555)gTg>gCg	p.V1185A		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1185					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTCCCAGAAGTGGATGTGAAG	0.413000													24	13					0	0	0.00047179	0	0
CABLES1	91768	broad.mit.edu	37	18	20815896	20815896	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:20815896C>T	ENST00000256925.7	+	6	1223	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	CABLES1_ENST00000400473.2_Missense_Mutation_p.A81V|CABLES1_ENST00000420687.2_Missense_Mutation_p.A143V|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000585061.1_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	408	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCACAAATGCCTTTGGAGCC	0.512000													29	62					0	0	0.000339439	0	0
NLRP5	126206	broad.mit.edu	37	19	56539225	56539225	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:56539225G>A	ENST00000390649.3	+	7	1626	c.1626G>A	c.(1624-1626)agG>agA	p.R542R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	542	NACHT.					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)		TGTGGAATAGGAAGTCAGTGT	0.562000													9	11					0	0	0.000442599	0	0
MICALCL	84953	broad.mit.edu	37	11	12315206	12315206	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:12315206G>A	ENST00000256186.2	+	3	519	c.228G>A	c.(226-228)agG>agA	p.R76R		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	76	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GAGCACCCAGGGAAATTCCCC	0.582000													21	50					0	0	0.000586117	0	0
CD2AP	23607	broad.mit.edu	37	6	47576971	47576971	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:47576971C>T	ENST00000359314.5	+	16	2201	c.1745C>T	c.(1744-1746)tCc>tTc	p.S582F	CD2AP_ENST00000486693.1_3'UTR	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	582					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	p.S582C(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAAAAAAATTCCCTGGATGAA	0.393000													19	33					0	0	0.000175454	0	0
AIM1L	55057	broad.mit.edu	37	1	26669245	26669245	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:26669245C>T	ENST00000527815.1	-	4	631	c.582_splice	c.e4+1	p.W194_splice	AIM1L_ENST00000308182.5_Splice_Site_p.W23_splice	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	23	Beta/gamma crystallin 'Greek key' 4.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACTCACTCACCCAGACAACCC	0.587000													9	46					0	0	0.000442599	0	0
RASAL3	64926	broad.mit.edu	37	19	15569352	15569352	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:15569352G>A	ENST00000343625.6	-	7	857	c.777C>T	c.(775-777)ccC>ccT	p.P259P		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	259	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAAAGCAGTGGGGCTCCCCCA	0.617000													5	3					0	0	3.59834e-05	0	0
PPFIA2	8499	broad.mit.edu	37	12	81688696	81688696	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:81688696G>A	ENST00000550584.2	-	23	3138	c.2843C>T	c.(2842-2844)cCa>cTa	p.P948L	PPFIA2_ENST00000443686.3_Missense_Mutation_p.P849L|PPFIA2_ENST00000541017.1_Missense_Mutation_p.P165L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P948L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P933L|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P515L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.P948L|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P874L|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P795L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P933L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P948L|PPFIA2_ENST00000545296.2_Intron|RP11-121G22.3_ENST00000549161.1_lincRNA	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	874										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCGATGCAGTGGATTGCTGAT	0.493000													6	11					0	0	3.59834e-05	0	0
CPA3	1359	broad.mit.edu	37	3	148614368	148614368	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:148614368C>T	ENST00000296046.3	+	11	1180	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	376					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACACATTTGCCTTTGAGCTCC	0.413000													32	31					0	0	0.000491102	0	0
KCNK13	56659	broad.mit.edu	37	14	90651018	90651018	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:90651018C>T	ENST00000282146.4	+	2	1339	c.898C>T	c.(898-900)Ccg>Tcg	p.P300S		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	300						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CGGGTGCTGCCCGCAATGCCA	0.552000													9	11					0	0	3.86212e-05	0	0
KALRN	8997	broad.mit.edu	37	3	124437996	124437996	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:124437996C>T	ENST00000360013.3	+	60	8767	c.8640C>T	c.(8638-8640)ttC>ttT	p.F2880F	KALRN_ENST00000428018.2_Silent_p.F1151F|KALRN_ENST00000291478.4_Silent_p.F1183F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2879	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTCCCCCTTCTTGGATGAGA	0.527000													13	16					0	0	0.00010058	0	0
HIVEP2	3097	broad.mit.edu	37	6	143090952	143090952	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:143090952G>A	ENST00000367603.2	-	5	5666	c.4924C>T	c.(4924-4926)Cgg>Tgg	p.R1642W	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1642W|HIVEP2_ENST00000367604.1_Missense_Mutation_p.R1642W	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTTGTTGTCCGCAGACTGGGG	0.502000													8	5					0	0	0.000157383	0	0
FMNL2	114793	broad.mit.edu	37	2	153475652	153475652	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:153475652C>T	ENST00000288670.9	+	14	1974	c.1607C>T	c.(1606-1608)tCa>tTa	p.S536L		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	536	Pro-rich.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTGCCTCCCTCATCAGACACA	0.532000													5	14					0	0	1.23904e-05	0	0
SLC14A2	8170	broad.mit.edu	37	18	43247925	43247925	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:43247925G>A	ENST00000255226.6	+	14	2661	c.1845G>A	c.(1843-1845)gcG>gcA	p.A615A	SLC14A2_ENST00000586448.1_Silent_p.A615A|SLC14A2_ENST00000589658.1_Silent_p.A92A	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	615						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGGTGGGCGATCTCAGGCT	0.562000													18	32					0	0	0.000132079	0	0
MIP	4284	broad.mit.edu	37	12	56847477	56847477	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:56847477G>A	ENST00000257979.4	-	2	451	c.423C>T	c.(421-423)ttC>ttT	p.F141F	MIP_ENST00000555551.1_5'UTR	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	141					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						TGCAGAGCACGAACTGGAGCG	0.607000													6	10					0	0	3.59834e-05	0	0
CNST	163882	broad.mit.edu	37	1	246810825	246810825	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:246810825G>A	ENST00000366513.4	+	9	1591	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	CNST_ENST00000366512.3_Missense_Mutation_p.R441H|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	441					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GGCTGTGACCGTATACCTCCT	0.502000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	68					0	0	0.000147903	0	0
TEX33	339669	broad.mit.edu	37	22	37398071	37398071	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:37398071C>T	ENST00000405091.2	-	4	547	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	TEX33_ENST00000402860.3_Missense_Mutation_p.R14Q|TEX33_ENST00000381821.1_Missense_Mutation_p.R99Q			O43247	EAN57_HUMAN	testis expressed 33	99																	CGAGGAGGATCGAGAGCCCGC	0.647000													7	8					0	0	8.12818e-05	0	0
PDE1C	5137	broad.mit.edu	37	7	31904624	31904624	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:31904624G>A	ENST00000396184.3	-	8	886	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	PDE1C_ENST00000321453.7_Missense_Mutation_p.H228Y|PDE1C_ENST00000396193.1_Missense_Mutation_p.H288Y|PDE1C_ENST00000396191.1_Missense_Mutation_p.H228Y|PDE1C_ENST00000396182.2_Missense_Mutation_p.H228Y	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	228	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ATTAAGTTATGGTAAGGATTT	0.458000													8	18					0	0	0.000274275	0	0
L1TD1	54596	broad.mit.edu	37	1	62675689	62675689	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:62675689G>A	ENST00000498273.1	+	4	1538	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	415	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						agggctggaggaggaagaaga	0.562000													16	10					0	0	0.000422831	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717242	13717242	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:13717242T>A	ENST00000279593.3	-	13	3139	c.2930A>T	c.(2929-2931)gAc>gTc	p.D977V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	977					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACGTTGCTGTCCTTCAGCTG	0.542000													16	19					0	0	0.000422831	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664422	5664422	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:5664422C>T	ENST00000354852.5	+	14	2185	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	TRIM34_ENST00000429814.2_Missense_Mutation_p.S317L|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.S317L|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_Missense_Mutation_p.S317L|TRIM34_ENST00000495668.1_3'UTR	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		671						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CTTGTCCTTTCAGAAGATCAG	0.333000													8	13					0	0	0.000274275	0	0
GLI3	2737	broad.mit.edu	37	7	42006170	42006170	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:42006170G>A	ENST00000395925.3	-	15	2585	c.2501C>T	c.(2500-2502)tCt>tTt	p.S834F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	834					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTCCACCCCAGAGAGGTCGCT	0.617000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				14	26					0	0	0.000219431	0	0
ABCB1	5243	broad.mit.edu	37	7	87135224	87135224	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:87135224C>T	ENST00000265724.3	-	28	4042	c.3625G>A	c.(3625-3627)Gaa>Aaa	p.E1209K	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.E1145K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1209	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTTCACTTTCTGTATCCAGA	0.418000													18	27					0	0	0.000132079	0	0
HOXA2	3199	broad.mit.edu	37	7	27140753	27140753	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:27140753C>T	ENST00000222718.5	-	2	1033	c.723G>A	c.(721-723)ggG>ggA	p.G241G		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	241						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						CCAGAAGGGCCCCAGAGACGC	0.522000													15	17					0	0	0.000219431	0	0
STAB1	23166	broad.mit.edu	37	3	52556956	52556956	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:52556956G>A	ENST00000321725.6	+	62	6986	c.6910_splice	c.e62+1	p.D2304_splice		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2304					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)		CCGTGTGCAAGGTGTGTCCAC	0.612000													15	18					0	0	0.000308642	0	0
AMPD3	272	broad.mit.edu	37	11	10483082	10483082	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:10483082C>T	ENST00000396554.3	+	2	384	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	6					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GCGGCAGTTTCCCAAGCTGAA	0.542000													35	60					0	0	0.000270559	0	0
TTLL10	254173	broad.mit.edu	37	1	1118394	1118394	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:1118394C>T	ENST00000379290.1	+	11	1228	c.1055C>T	c.(1054-1056)cCg>cTg	p.P352L	TTLL10_ENST00000379288.3_Missense_Mutation_p.P279L|TTLL10_ENST00000379289.1_Missense_Mutation_p.P352L			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	352	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACAAGACGCCGTTCCGGGGG	0.706000													4	5					0	0	8.12818e-05	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703734	187703734	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:187703734A>T	ENST00000295131.2	-	4	485	c.446T>A	c.(445-447)aTt>aAt	p.I149N		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	149					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTCTTGACAAATAGAGCAGAT	0.333000													28	49					0	0	0.000109025	0	0
EPHB2	2048	broad.mit.edu	37	1	23222924	23222924	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:23222924C>T	ENST00000400191.3	+	9	1736	c.1718C>T	c.(1717-1719)gCt>gTt	p.A573V	EPHB2_ENST00000374632.3_Missense_Mutation_p.A574V|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.A568V|EPHB2_ENST00000374630.3_Missense_Mutation_p.A573V	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	573					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTTGAGCGTGCTGACTCGGAG	0.602000													7	15					0	0	0.000442599	0	0
KLHL4	56062	broad.mit.edu	37	X	86880675	86880675	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:86880675G>A	ENST00000373119.4	+	6	1348	c.1203G>A	c.(1201-1203)atG>atA	p.M401I	KLHL4_ENST00000373114.4_Missense_Mutation_p.M401I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	401						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.M401I(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGCTCCTGATGGAAGCTATGA	0.433000													15	4					0	0	0.000422831	0	0
ROS1	6098	broad.mit.edu	37	6	117704553	117704553	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:117704553G>A	ENST00000368508.3	-	16	2621	c.2423C>T	c.(2422-2424)tCa>tTa	p.S808L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S803L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	808					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCTTTCCACTGAATAGAGTGT	0.433000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								12	30					0	0	0.000151284	0	0
CNTN4	152330	broad.mit.edu	37	3	2908551	2908551	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:2908551G>A	ENST00000397461.1	+	7	954	c.570G>A	c.(568-570)ggG>ggA	p.G190G	CNTN4_ENST00000418658.1_Silent_p.G190G|CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000427331.1_Silent_p.G190G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	190	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.G190G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGATGTTGGGAATTATACCT	0.408000													9	31					0	0	0.000442599	0	0
APOB	338	broad.mit.edu	37	2	21236077	21236077	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:21236077T>C	ENST00000233242.1	-	25	4298	c.4171A>G	c.(4171-4173)Atg>Gtg	p.M1391V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1391					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAGCCTTCATGTGGTAACGA	0.532000													56	45					0	0	0.000147903	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445685	10445685	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:10445685G>A	ENST00000326756.3	-	3	2706	c.2268C>T	c.(2266-2268)acC>acT	p.T756T		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	756					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTCTGCTTTTGGTTTTCCTAT	0.453000													17	37					0	0	7.07596e-05	0	0
MTERFD2	130916	broad.mit.edu	37	2	242036799	242036799	+	Silent	SNP	G	G	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:242036799G>C	ENST00000391980.2	-	3	622	c.564C>G	c.(562-564)acC>acG	p.T188T	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_5'UTR|MTERFD2_ENST00000407095.3_Silent_p.T188T	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	188								p.T188T(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GCTGGCGCATGGTGAAAATTT	0.448000													4	51					0	0	0.00024832	0	0
WFDC10B	280664	broad.mit.edu	37	20	44313574	44313574	+	Silent	SNP	G	G	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:44313574G>T	ENST00000330523.5	-	4	347	c.117C>A	c.(115-117)ccC>ccA	p.P39P	WFDC10B_ENST00000335769.2_Silent_p.P55P	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	39	WAP.					extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				GATCTATGCTGGGTCGCTTCT	0.448000													21	20					2.32416e-17	4.92226e-16	0.000295444	1	0
GRIN2B	2904	broad.mit.edu	37	12	13716619	13716619	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:13716619C>T	ENST00000279593.3	-	13	3762	c.3553G>A	c.(3553-3555)Gac>Aac	p.D1185N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1185					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCGTGTTTGTCGCCCGTCCCG	0.622000													9	14					0	0	6.40141e-05	0	0
AFF3	3899	broad.mit.edu	37	2	100210279	100210279	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:100210279C>T	ENST00000317233.4	-	14	2079	c.1844G>A	c.(1843-1845)gGg>gAg	p.G615E	AFF3_ENST00000356421.2_Missense_Mutation_p.G640E|AFF3_ENST00000409579.1_Missense_Mutation_p.G640E|AFF3_ENST00000409236.1_Missense_Mutation_p.G615E	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	615					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACGCTCGTCCCCAGCGCGTC	0.731000													15	5					0	0	0.000566183	0	0
HAVCR1	26762	broad.mit.edu	37	5	156456847	156456847	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:156456847G>A	ENST00000339252.3	-	8	1524	c.992C>T	c.(991-993)tCa>tTa	p.S331L	HAVCR1_ENST00000544197.1_Missense_Mutation_p.S331L|HAVCR1_ENST00000522693.1_Missense_Mutation_p.H320Y|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S331L|HAVCR1_ENST00000425854.1_Missense_Mutation_p.H320Y	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	326					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTGCTAAATGAAACACTGTA	0.353000													84	126					0	0	0.000147903	0	0
BAGE2	85319	broad.mit.edu	37	21	11038785	11038785	+	RNA	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr21:11038785C>T	ENST00000470054.1	-	0	1418									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTGGTTTACCCATGCCAGTTT	0.408000													16	231					0	0	9.7654e-05	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604530	160604530	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:160604530G>A	ENST00000302035.6	-	3	922	c.573C>T	c.(571-573)tcC>tcT	p.S191S	SLAMF1_ENST00000355199.3_Silent_p.S191S|SLAMF1_ENST00000235739.5_Silent_p.S191S|SLAMF1_ENST00000538290.1_Silent_p.S191S	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	191	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACAGGAGGTGGGAGCTGTTGG	0.587000													14	20					0	0	0.000422831	0	0
NPHS1	4868	broad.mit.edu	37	19	36339065	36339065	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:36339065G>A	ENST00000378910.5	-	11	1317	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	NPHS1_ENST00000353632.6_Missense_Mutation_p.P440S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	440	Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTCTGGGCGGGATCTGGCGGG	0.617000													17	23					0	0	0.000422831	0	0
AK7	122481	broad.mit.edu	37	14	96922720	96922720	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:96922720G>A	ENST00000267584.4	+	11	1179	c.1135G>A	c.(1135-1137)Gga>Aga	p.G379R		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	379	Adenylate kinase.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCCTGCTGTGGGAAAATCCAG	0.438000													13	8					0	0	0.000308642	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41131281	41131281	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:41131281G>A	ENST00000421990.2	-	4	668	c.323C>T	c.(322-324)tCc>tTc	p.S108F	PTGES3L_ENST00000453594.1_Intron|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.S108F|PTGES3L_ENST00000409446.3_Missense_Mutation_p.S70F|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.S47F|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.S47F	NM_001136042.2	NP_001129514.2																					CTTATCCTGGGAGTCCTGCCA	0.512000													12	40					0	0	6.40141e-05	0	0
GAREM	64762	broad.mit.edu	37	18	29867642	29867642	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:29867642G>A	ENST00000399218.4	-	4	973	c.918C>T	c.(916-918)ttC>ttT	p.F306F	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Silent_p.F306F	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CTGGGAGGCTGAACTTGGGGA	0.527000													11	26					0	0	0.00010058	0	0
OR10J3	441911	broad.mit.edu	37	1	159283771	159283771	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:159283771G>A	ENST00000332217.5	-	1	678	c.679C>T	c.(679-681)Ctt>Ttt	p.L227F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GCAATCTTAAGAATGGTGGAG	0.488000													9	34					0	0	0.000442599	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44386575	44386575	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:44386575C>T	ENST00000262915.3	+	12	1397	c.1220C>T	c.(1219-1221)aCc>aTc	p.T407I	ST3GAL3_ENST00000347631.2_Missense_Mutation_p.T353I|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.T322I|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.T338I|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.T308I|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.T307I|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.T376I|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.T392I|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.T407I|ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.T392I|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.T307I|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.T376I|ST3GAL3_ENST00000361812.4_Intron	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	338					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TACTATGAGACCGTTCGCATG	0.577000													4	3					0	0	0.00024832	0	0
PCLO	27445	broad.mit.edu	37	7	82584366	82584366	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:82584366G>A	ENST00000423517.2	-	5	6240	c.5903C>T	c.(5902-5904)tCg>tTg	p.S1968L	PCLO_ENST00000333891.8_Missense_Mutation_p.S1968L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1899					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCATCTACCGATCCATTGTA	0.363000													56	57					0	0	0.000147903	0	0
FBLN1	2192	broad.mit.edu	37	22	45929727	45929727	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:45929727G>A	ENST00000348697.2	+	7	880	c.733G>A	c.(733-735)Gac>Aac	p.D245N	FBLN1_ENST00000402984.3_Missense_Mutation_p.D283N|FBLN1_ENST00000340923.5_Missense_Mutation_p.D245N|FBLN1_ENST00000327858.6_Missense_Mutation_p.D245N|FBLN1_ENST00000262722.7_Missense_Mutation_p.D245N|FBLN1_ENST00000442170.2_Missense_Mutation_p.D245N			P23142	FBLN1_HUMAN	fibulin 1	245	EGF-like 2; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTGCCAGCGGGACAGCAGCTG	0.567000													20	58					0	0	0.000175454	0	0
ACTL9	284382	broad.mit.edu	37	19	8808406	8808406	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:8808406G>A	ENST00000324436.3	-	1	766	c.646C>T	c.(646-648)Cac>Tac	p.H216Y		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	216						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TCCGTGGCGTGGAGCAGGTTG	0.682000													6	18					0	0	8.12818e-05	0	0
TTN	7273	broad.mit.edu	37	2	179585787	179585787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:179585787C>T	ENST00000589042.1	-	79	23183	c.22959G>A	c.(22957-22959)tgG>tgA	p.W7653*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.W7336*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W6409*|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7336	Ig-like 58.						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)			TGTTGTATTTCCAACTTTCAT	0.413000													14	67					0	0	0.000308642	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	19					0	0	0.000270559	0	0
ITPR1	3708	broad.mit.edu	37	3	4853113	4853113	+	Silent	SNP	A	A	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:4853113A>G	ENST00000354582.6	+	55	7742	c.7392A>G	c.(7390-7392)gtA>gtG	p.V2464V	ITPR1_ENST00000443694.2_Silent_p.V2464V|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Silent_p.V2416V|ITPR1_ENST00000423119.2_Silent_p.V2431V|ITPR1_ENST00000357086.4_Silent_p.V2431V|ITPR1_ENST00000544951.1_Silent_p.V442V|ITPR1_ENST00000302640.8_Silent_p.V2464V			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2479					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCTTGGAAGTAGATAGGCTGC	0.408000													16	45					0	0	9.7654e-05	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26237032	26237032	+	RNA	SNP	T	T	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:26237032T>C	ENST00000519902.1	-	0	2916																											TGTTTTTTCTTCTCTTTACTT	0.398000													23	29					0	0	0.000375601	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854245	12854245	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:12854245G>A	ENST00000332296.7	+	3	572	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	157										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCTCAAGGAAATACCCCA	0.493000													42	53					0	0	0.000147903	0	0
USH2A	7399	broad.mit.edu	37	1	215987101	215987101	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:215987101C>T	ENST00000366943.2	-	49	10102	c.9716G>A	c.(9715-9717)gGg>gAg	p.G3239E	USH2A_ENST00000307340.3_Missense_Mutation_p.G3239E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3239					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCGTAATACCCAGAGCAGCA	0.423000										HNSCC(13;0.011)			5	22					0	0	1.23904e-05	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													6	86					0	0	3.59834e-05	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208773276	208773276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:208773276G>A	ENST00000427836.2	-	6	2401	c.1912C>T	c.(1912-1914)Caa>Taa	p.Q638*	PLEKHM3_ENST00000457206.1_Silent_p.F652F|PLEKHM3_ENST00000389247.4_Nonsense_Mutation_p.Q638*	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	638					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGATCTGTTGAAGGAGGTAT	0.443000													24	25					0	0	0.000147802	0	0
PIANP	196500	broad.mit.edu	37	12	6804720	6804720	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:6804720C>T	ENST00000534837.1	-	5	932	c.703G>A	c.(703-705)Gga>Aga	p.G235R	PIANP_ENST00000540656.1_Missense_Mutation_p.G235R|PIANP_ENST00000320591.5_Missense_Mutation_p.G235R	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		ACAGTGACTCCAGCCGGGGAC	0.701000													6	21					0	0	3.59834e-05	0	0
EPB41L1	2036	broad.mit.edu	37	20	34775631	34775631	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:34775631C>T	ENST00000338074.2	+	8	980	c.819C>T	c.(817-819)ttC>ttT	p.F273F	EPB41L1_ENST00000373946.3_Silent_p.F242F|EPB41L1_ENST00000373941.1_Silent_p.F273F|EPB41L1_ENST00000373950.2_Silent_p.F176F|EPB41L1_ENST00000202028.5_Silent_p.F211F|EPB41L1_ENST00000441639.1_Silent_p.F211F	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	273	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAATCCACTTCTTAGAGAATG	0.552000													5	12					0	0	0.000157383	0	0
MUC16	94025	broad.mit.edu	37	19	9058623	9058623	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:9058623G>A	ENST00000397910.4	-	3	29026	c.28823C>T	c.(28822-28824)cCc>cTc	p.P9608L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9610	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						GGCACCAGAGGGCATCTTGTA	0.527000													6	8					0	0	8.12818e-05	0	0
FNTA	2339	broad.mit.edu	37	8	42938323	42938323	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:42938323G>A	ENST00000529687.1	+	7	1280	c.392_splice	c.e7+1	p.G131_splice	FNTA_ENST00000302279.3_Splice_Site_p.G282_splice|FNTA_ENST00000342116.4_Splice_Site_p.G215_splice			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	282					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TATTTGAAAGGGTAAGAGGTT	0.284000													28	190					0	0	0.000339439	0	0
TTN	7273	broad.mit.edu	37	2	179634931	179634931	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:179634931C>T	ENST00000589042.1	-	36	8721	c.8497G>A	c.(8497-8499)Gaa>Aaa	p.E2833K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E2787K|TTN_ENST00000359218.5_Missense_Mutation_p.E2787K|TTN_ENST00000591111.1_Missense_Mutation_p.E2833K|TTN_ENST00000342992.6_Missense_Mutation_p.E2833K|TTN_ENST00000460472.2_Missense_Mutation_p.E2787K|TTN_ENST00000360870.5_Missense_Mutation_p.E2833K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2571							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)			GGCTTAATTTCCACACTCTTA	0.458000													43	38					0	0	0.000147903	0	0
TLR6	10333	broad.mit.edu	37	4	38829222	38829222	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:38829222G>A	ENST00000436693.2	-	2	1992	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	TLR6_ENST00000381950.1_Missense_Mutation_p.R625W	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	625					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCCTGCGCCGAGTCTGGGTC	0.512000													8	40					0	0	0.000274275	0	0
PHF21A	51317	broad.mit.edu	37	11	45975105	45975105	+	Silent	SNP	G	G	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:45975105G>T	ENST00000257821.4	-	10	1691	c.1068C>A	c.(1066-1068)ccC>ccA	p.P356P	PHF21A_ENST00000418153.2_Silent_p.P355P|PHF21A_ENST00000323180.6_Silent_p.P356P|PHF21A_ENST00000527753.1_5'UTR	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	355					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GTTTTGGTTTGGGTGCAGCAG	0.458000													5	42					3.59834e-05	0.000756031	3.59834e-05	1	0
SERPINB3	6317	broad.mit.edu	37	18	61322951	61322951	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:61322951G>A	ENST00000283752.5	-	8	1256	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.F319F	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	371					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCCTTATGAAGAATAGGAAAG	0.443000													18	38					0	0	0.000175454	0	0
LPP	4026	broad.mit.edu	37	3	188242563	188242563	+	Silent	SNP	T	T	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:188242563T>C	ENST00000312675.4	+	5	663	c.417T>C	c.(415-417)ccT>ccC	p.P139P	LPP_ENST00000448637.1_Silent_p.P139P|LPP_ENST00000543006.1_Silent_p.P139P	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	139	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCTATAAGCCTCGGCCTCCAC	0.527000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								18	54					0	0	0.000175454	0	0
NCKAP1	10787	broad.mit.edu	37	2	183841668	183841668	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:183841668C>T	ENST00000360982.2	-	16	2211	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	NCKAP1_ENST00000361354.3_Missense_Mutation_p.E479K	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	479					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCAAATACTTCCCCATCTTCA	0.264000													6	11					0	0	0.000157383	0	0
MAST1	22983	broad.mit.edu	37	19	12958212	12958212	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:12958212G>A	ENST00000251472.4	+	5	475	c.436G>A	c.(436-438)Gag>Aag	p.E146K	MAST1_ENST00000591495.1_Missense_Mutation_p.E142K	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	146					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CATCACAGACGAGGATGGTGG	0.652000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	20					0	0	0.000442599	0	0
ZNF493	284443	broad.mit.edu	37	19	21588653	21588653	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:21588653C>T	ENST00000392288.2	+	3	357	c.248C>T	c.(247-249)cCc>cTc	p.P83L	CTD-2561J22.3_ENST00000600810.1_Missense_Mutation_p.P64L|ZNF493_ENST00000355504.4_Intron|ZNF493_ENST00000596302.1_Missense_Mutation_p.P84L|ZNF493_ENST00000339914.6_Missense_Mutation_p.P84L|ZNF493_ENST00000594390.1_Missense_Mutation_p.P83L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GTAGTCAAACCCCCAGGTAGG	0.418000													4	25					0	0	0.00024832	0	0
DGCR2	9993	broad.mit.edu	37	22	19055627	19055627	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:19055627G>A	ENST00000545799.1	-	3	514	c.314C>T	c.(313-315)cCc>cTc	p.P105L	DGCR2_ENST00000537045.1_Missense_Mutation_p.P64L|DGCR2_ENST00000263196.7_Missense_Mutation_p.P105L			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	105					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GAAGCGAACGGGCTGCGCCAC	0.642000													6	13					0	0	0.000274275	0	0
BRCA2	675	broad.mit.edu	37	13	32893249	32893249	+	Missense_Mutation	SNP	C	C	T	rs80359262		TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr13:32893249C>T	ENST00000544455.1	+	3	330	c.103C>T	c.(103-105)Ctt>Ttt	p.L35F	BRCA2_ENST00000380152.3_Missense_Mutation_p.L35F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	35	Interaction with PALB2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTTTGAAGAACTTTCTTCAGA	0.338000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			27	59					0	0	0.000279167	0	0
TGIF2	60436	broad.mit.edu	37	20	35207364	35207364	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:35207364C>T	ENST00000373874.2	+	2	386	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L	TGIF2_ENST00000373872.4_Silent_p.L63L|RP5-977B1.11_ENST00000561134.1_RNA|TGIF2-C20orf24_ENST00000558530.1_Silent_p.L63L	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	63						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CCTGTCAGTGCTGCAAGTAAG	0.572000													5	22					0	0	0.000157383	0	0
QSOX2	169714	broad.mit.edu	37	9	139113687	139113687	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:139113687G>A	ENST00000358701.5	-	6	813	c.776C>T	c.(775-777)tCg>tTg	p.S259L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	259					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAGGTAACACGAAGGGACTGA	0.537000													17	9					0	0	7.07596e-05	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887095	62887095	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:62887095G>A	ENST00000281156.4	-	2	492	c.214C>T	c.(214-216)Cca>Tca	p.P72S		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	72	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AGTACCTTTGGATACTGCTTG	0.289000													9	26					0	0	0.00010058	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904882	205904882	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:205904882C>T	ENST00000367135.3	-	2	180	c.67G>A	c.(67-69)Gag>Aag	p.E23K	SLC26A9_ENST00000367134.2_Missense_Mutation_p.E23K|SLC26A9_ENST00000340781.4_Missense_Mutation_p.E23K|RP4-681L3.2_ENST00000421166.1_RNA	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	23						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TTCTCAAACTCATCGTCGAAG	0.552000													15	53					0	0	0.000422831	0	0
DYSF	8291	broad.mit.edu	37	2	71742757	71742757	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:71742757G>A	ENST00000258104.3	+	7	945	c.668G>A	c.(667-669)aGg>aAg	p.R223K	DYSF_ENST00000409744.1_Missense_Mutation_p.R224K|DYSF_ENST00000394120.2_Missense_Mutation_p.R224K|DYSF_ENST00000409651.1_Missense_Mutation_p.R255K|DYSF_ENST00000409762.1_Missense_Mutation_p.R254K|DYSF_ENST00000409582.3_Missense_Mutation_p.R254K|DYSF_ENST00000429174.2_Missense_Mutation_p.R223K|DYSF_ENST00000409366.1_Missense_Mutation_p.R224K|DYSF_ENST00000413539.2_Missense_Mutation_p.R254K|DYSF_ENST00000410020.3_Missense_Mutation_p.R255K|DYSF_ENST00000410041.1_Missense_Mutation_p.R255K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	223	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTTCAGATCAGGGTCCAGGTG	0.592000													6	49					0	0	0.000157383	0	0
SYT12	91683	broad.mit.edu	37	11	66807332	66807332	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:66807332C>T	ENST00000393946.2	+	7	1441	c.279C>T	c.(277-279)agC>agT	p.S93S	SYT12_ENST00000527043.1_Silent_p.S93S|SYT12_ENST00000525457.1_Silent_p.S93S|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	93						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GACCACCCAGCCGCAAAGGCA	0.632000													18	31					0	0	0.000175454	0	0
KCTD5	54442	broad.mit.edu	37	16	2747994	2747994	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:2747994C>T	ENST00000301738.4	+	3	523	c.449C>T	c.(448-450)tCg>tTg	p.S150L	KCTD5_ENST00000564195.1_Intron	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	150					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						AGCAAAACATCGCAGGTGAGA	0.458000													7	11					0	0	8.12818e-05	0	0
RORB	6096	broad.mit.edu	37	9	77300508	77300508	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:77300508C>T	ENST00000376896.2	+	10	1966	c.1354C>T	c.(1354-1356)Cct>Tct	p.P452S	RORB_ENST00000396204.2_Missense_Mutation_p.P463S	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	463	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTCTTTAATCCTGACTGTGC	0.438000													22	16					0	0	0.000117367	0	0
MUC16	94025	broad.mit.edu	37	19	9049655	9049655	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:9049655G>A	ENST00000397910.4	-	5	32179	c.31976C>T	c.(31975-31977)tCg>tTg	p.S10659L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10661	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						ATCTGTCCCCGAAATAGTGAC	0.498000													17	31					0	0	0.000175454	0	0
TMEM44	93109	broad.mit.edu	37	3	194336417	194336417	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:194336417G>A	ENST00000392432.2	-	8	1139	c.934C>T	c.(934-936)Ctt>Ttt	p.L312F	TMEM44_ENST00000473092.1_Missense_Mutation_p.L265F|TMEM44_ENST00000347147.4_Missense_Mutation_p.L265F|TMEM44_ENST00000273580.7_Missense_Mutation_p.L265F|TMEM44_ENST00000381975.3_Missense_Mutation_p.L265F	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	312						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		ACACACGAAAGGAAAATAATC	0.522000													49	84					0	0	0.000147903	0	0
GLRA1	2741	broad.mit.edu	37	5	151239414	151239414	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:151239414G>A	ENST00000274576.4	-	4	700	c.408C>T	c.(406-408)ttC>ttT	p.F136F	GLRA1_ENST00000455880.2_Silent_p.F136F|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Silent_p.F53F	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	136					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATCTCATGGAAGTGGGCCC	0.522000													21	19					0	0	0.000132079	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363109	22363109	+	RNA	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:22363109C>T	ENST00000390438.2	+	0	368																											AAGGCATCAACGGTTTTGAGG	0.507000													19	13					0	0	7.07596e-05	0	0
PSG7	5676	broad.mit.edu	37	19	43439843	43439843	+	RNA	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:43439843C>T	ENST00000446844.3	-	0	232				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AACATCCTTCCCCTCGGAAAC	0.483000													38	89					0	0	0.000191422	0	0
ZNF596	169270	broad.mit.edu	37	8	195476	195476	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:195476T>C	ENST00000398612.1	+	6	1012	c.629T>C	c.(628-630)cTt>cCt	p.L210P	ZNF596_ENST00000320552.2_Missense_Mutation_p.L140P|ZNF596_ENST00000308811.4_Missense_Mutation_p.L210P	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		AATTCTAATCTTAGGCGACAT	0.423000													18	53					0	0	0.000132079	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949026	45949026	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:45949026G>A	ENST00000531526.1	+	11	1597	c.1486G>A	c.(1486-1488)Ggg>Agg	p.G496R	GYLTL1B_ENST00000389968.3_Missense_Mutation_p.G223R|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.G496R|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.G465R|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.G496R|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.G465R	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	496					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GTACCGTGAGGGGCCCCTATA	0.607000													22	30					0	0	0.000295444	0	0
ZNF679	168417	broad.mit.edu	37	7	63720720	63720720	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:63720720C>T	ENST00000421025.1	+	3	430	c.161C>T	c.(160-162)tCc>tTc	p.S54F	ZNF679_ENST00000255746.4_Missense_Mutation_p.S54F	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AACCTGGTCTCCCTGGGTGAG	0.368000													42	57					0	0	0.000147903	0	0
KAT6B	23522	broad.mit.edu	37	10	76784908	76784908	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:76784908C>T	ENST00000287239.4	+	17	4054	c.3565C>T	c.(3565-3567)Ctg>Ttg	p.L1189L	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Silent_p.L897L|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372724.1_Silent_p.L897L|KAT6B_ENST00000372711.1_Silent_p.L1006L|KAT6B_ENST00000372714.1_Silent_p.L897L	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1189					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GAAGCCAGTCCTGAGAAAAGC	0.478000													8	14					0	0	0.000274275	0	0
OR4M1	441670	broad.mit.edu	37	14	20248886	20248886	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:20248886C>T	ENST00000315957.4	+	1	486	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGCTACCATCATGAATCGAC	0.498000													27	20					0	0	0.00058488	0	0
FAM63B	54629	broad.mit.edu	37	15	59139614	59139614	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr15:59139614G>A	ENST00000559228.1	+	7	1569	c.1487G>A	c.(1486-1488)cGa>cAa	p.R496Q	FAM63B_ENST00000450403.2_Missense_Mutation_p.R496Q			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	496										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TTTCATCTTCGACCTCCTTCA	0.383000													13	32					0	0	0.00010058	0	0
BAGE2	85319	broad.mit.edu	37	21	11038784	11038784	+	RNA	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr21:11038784C>T	ENST00000470054.1	-	0	1419									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTGGTTTACCCATGCCAGTT	0.408000													16	223					0	0	7.07596e-05	0	0
PTPRD	5789	broad.mit.edu	37	9	8317942	8317942	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:8317942C>T	ENST00000381196.4	-	43	6214	c.5670_splice	c.e43-1	p.D1891_splice	PTPRD_ENST00000356435.5_Splice_Site_p.D1891_splice|PTPRD_ENST00000355233.5_Splice_Site_p.D1485_splice|PTPRD_ENST00000358503.5_Splice_Site_p.D1869_splice|PTPRD_ENST00000486161.1_Splice_Site_p.D1484_splice|PTPRD_ENST00000397606.3_Splice_Site_p.D1484_splice|PTPRD_ENST00000397617.3_Splice_Site_p.D1484_splice|PTPRD_ENST00000397611.3_Splice_Site_p.D1481_splice|PTPRD_ENST00000537002.1_Splice_Site_p.D1481_splice|PTPRD_ENST00000360074.4_Splice_Site_p.D1878_splice|PTPRD_ENST00000540109.1_Splice_Site_p.D1891_splice	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1891	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGATATTGATCCTGCAGGAGA	0.383000										TSP Lung(15;0.13)			9	9					0	0	3.86212e-05	0	0
HERC3	8916	broad.mit.edu	37	4	89579585	89579585	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:89579585C>T	ENST00000402738.1	+	10	1328	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	HERC3_ENST00000264345.3_Silent_p.I363I|HERC3_ENST00000543130.1_5'UTR	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	363					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AATATCATATCGTTAAGCAGA	0.338000													9	42					0	0	0.00010058	0	0
VWA2	340706	broad.mit.edu	37	10	116045904	116045904	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:116045904G>A	ENST00000603594.1	+	11	1525	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	VWA2_ENST00000392982.3_Missense_Mutation_p.D402N	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	402	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)		GGAGTACCAGGATGTGCCTGA	0.682000													11	16					0	0	0.00010058	0	0
MED12L	116931	broad.mit.edu	37	3	151105632	151105632	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:151105632C>A	ENST00000474524.1	+	35	5056	c.5018C>A	c.(5017-5019)cCg>cAg	p.P1673Q	MED12L_ENST00000273432.4_Missense_Mutation_p.P1533Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1673					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.P1673L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGTGTCCCCGTGGGACTTG	0.527000													4	33					0.00024832	0.00517627	0.00024832	1	0
SCN7A	6332	broad.mit.edu	37	2	167284358	167284358	+	Silent	SNP	T	T	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:167284358T>C	ENST00000409855.1	-	17	2919	c.2793A>G	c.(2791-2793)gtA>gtG	p.V931V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	931					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AATTGTTCTCTACAATCTTGC	0.468000													4	9					0	0	0.00024832	0	0
NLRP11	204801	broad.mit.edu	37	19	56321408	56321408	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:56321408C>T	ENST00000443188.1	-	5	1278	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	NLRP11_ENST00000360133.3_Missense_Mutation_p.E190K|NLRP11_ENST00000592953.1_Missense_Mutation_p.E91K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E190K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E190K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	190	NACHT.						ATP binding	p.E190K(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGGTTTATTTCGTGAGCAGTG	0.493000													9	19					0	0	3.86212e-05	0	0
SDK1	221935	broad.mit.edu	37	7	4201469	4201469	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:4201469C>T	ENST00000404826.2	+	32	4920	c.4781C>T	c.(4780-4782)tCt>tTt	p.S1594F	SDK1_ENST00000389531.3_Missense_Mutation_p.S1594F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1594	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCACGTCCTCTGTCCTGATA	0.562000													12	21					0	0	0.000422831	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025032	176025032	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:176025032G>A	ENST00000303991.4	-	2	1981	c.1804C>T	c.(1804-1806)Cca>Tca	p.P602S		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	602						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTCCCTCTGGGATAGCTTCT	0.572000													16	15					0	0	9.7654e-05	0	0
MYO3B	140469	broad.mit.edu	37	2	171375994	171375994	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:171375994C>T	ENST00000334231.6	+	30	3546	c.3546C>T	c.(3544-3546)tcC>tcT	p.S1182S	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Silent_p.S1173S|MYO3B_ENST00000409044.3_Silent_p.S1146S			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1173					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAGCAGAATCCAACAATGGCC	0.468000													11	18					0	0	0.00010058	0	0
JAK1	3716	broad.mit.edu	37	1	65344732	65344732	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:65344732G>A	ENST00000342505.4	-	4	553	c.305C>T	c.(304-306)tCc>tTc	p.S102F		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	102	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GAGCCGGAGGGACATCTTGTC	0.552000			Mis		ALL								7	12					0	0	8.12818e-05	0	0
IL7R	3575	broad.mit.edu	37	5	35873648	35873648	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:35873648G>A	ENST00000303115.3	+	5	733	c.604G>A	c.(604-606)Gag>Aag	p.E202K	IL7R_ENST00000343305.4_Missense_Mutation_p.E202K|IL7R_ENST00000506850.1_Missense_Mutation_p.E202K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	202	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.E202K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGCAATGTATGAGATTAAAGT	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						9	34					0	0	0.000274275	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64699325	64699325	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:64699325C>T	ENST00000164133.2	+	11	1723	c.1101C>T	c.(1099-1101)tcC>tcT	p.S367S		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	367					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GCTGTGTTTCCAGCCCCCATT	0.552000													15	22					0	0	0.000175454	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837781	93837781	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:93837781G>A	ENST00000315765.9	+	16	2778	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	924	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CGTTGATTATGAATTTGCTCT	0.363000													46	49					0	0	0.000147903	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730404	15730404	+	RNA	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:15730404G>A	ENST00000441682.2	+	0	461							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GTGGCCAGGGGAAGATTCTGC	0.552000													8	13					0	0	0.000157383	0	0
SLC25A46	91137	broad.mit.edu	37	5	110077790	110077790	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:110077790G>A	ENST00000355943.3	+	2	452	c.326_splice	c.e2+1	p.S109_splice	SLC25A46_ENST00000447245.2_Splice_Site_p.S109_splice|SLC25A46_ENST00000509442.2_Splice_Site_p.S18_splice|SLC25A46_ENST00000513807.1_5'UTR|SLC25A46_ENST00000504098.1_5'UTR	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	109					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GGACTTGCAAGGTAATGTTTT	0.244000													16	50					0	0	9.7654e-05	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137497	40137497	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:40137497C>T	ENST00000278198.2	-	2	2309	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	LRRC4C_ENST00000527150.1_Missense_Mutation_p.E116K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E116K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E116K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	116					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCCCAATTTCAATGGTTCTG	0.428000													6	23					0	0	0.000157383	0	0
ACAP2	23527	broad.mit.edu	37	3	195009893	195009893	+	Silent	SNP	A	A	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:195009893A>G	ENST00000326793.6	-	21	2361	c.2131T>C	c.(2131-2133)Ttg>Ctg	p.L711L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	711					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCTATGCTCAAAGGGTCTTTC	0.403000													22	44					0	0	0.000586117	0	0
AXIN1	8312	broad.mit.edu	37	16	343690	343690	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:343690G>A	ENST00000262320.3	-	8	2355	c.1984C>T	c.(1984-1986)Cat>Tat	p.H662Y	AXIN1_ENST00000354866.3_Missense_Mutation_p.H662Y	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	662	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GAGTTCTCATGGGGCTGTGGC	0.632000													29	24					0	0	0.000227799	0	0
COL4A6	1288	broad.mit.edu	37	X	107417781	107417781	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:107417781G>A	ENST00000334504.7	-	31	3260	c.3027C>T	c.(3025-3027)atC>atT	p.I1009I	COL4A6_ENST00000372216.4_Silent_p.I1010I|COL4A6_ENST00000545689.1_Silent_p.I1009I|COL4A6_ENST00000394872.2_Silent_p.I1010I|COL4A6_ENST00000538570.1_Silent_p.I1009I	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1010	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAACTCCTTTGATAATGCCTG	0.547000									Alport syndrome with Diffuse Leiomyomatosis				8	10					0	0	0.000442599	0	0
COL28A1	340267	broad.mit.edu	37	7	7421240	7421240	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:7421240C>T	ENST00000399429.3	-	28	2280	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	714					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGTCCTTGTTCCCCCTACATA	0.468000													45	95					0	0	0.000147903	0	0
ABHD15	116236	broad.mit.edu	37	17	27893340	27893340	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:27893340G>A	ENST00000307201.4	-	1	815	c.645C>T	c.(643-645)ctC>ctT	p.L215L	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000584522.1_3'UTR	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	215						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCGCCTCCTTGAGGTCGGACG	0.701000													5	10					0	0	3.59834e-05	0	0
FAM170A	340069	broad.mit.edu	37	5	118970376	118970376	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:118970376G>A	ENST00000515256.1	+	3	1105	c.933G>A	c.(931-933)agG>agA	p.R311R				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	311						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TTGGCCTGAGGAGATCCTGGA	0.537000													22	35					0	0	9.22233e-05	0	0
PCDH15	65217	broad.mit.edu	37	10	55913032	55913032	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:55913032C>T	ENST00000373965.2	-	15	2027	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	PCDH15_ENST00000373957.3_Missense_Mutation_p.E516K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E538K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.E538K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E516K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E543K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E538K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E538K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E538K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E545K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E538K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E538K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E149K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E501K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	538	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.E543K(2)|p.E538K(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTGACCCTTCGTCTGCGTCG	0.458000										HNSCC(58;0.16)			4	12					0	0	1.23904e-05	0	0
MORC2	22880	broad.mit.edu	37	22	31338215	31338215	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:31338215G>A	ENST00000215862.4	-	8	1647	c.284C>T	c.(283-285)cCt>cTt	p.P95L	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000397641.2_Missense_Mutation_p.P157L	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	157							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GTCTGTGACAGGTTCCCGGGT	0.502000													24	49					0	0	0.000147802	0	0
SLC40A1	30061	broad.mit.edu	37	2	190440039	190440039	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:190440039C>T	ENST00000261024.2	-	3	545	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	40					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GTGCCACATCCGATCTCCCTT	0.448000													7	32					0	0	8.12818e-05	0	0
OR5P3	120066	broad.mit.edu	37	11	7847104	7847104	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:7847104C>T	ENST00000328375.1	-	1	415	c.416G>A	c.(415-417)gGa>gAa	p.G139E	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATGCAGACTCCAGGGGACAT	0.532000													16	20					0	0	9.7654e-05	0	0
GLI3	2737	broad.mit.edu	37	7	42004782	42004782	+	Silent	SNP	G	G	A	rs145618226		TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:42004782G>A	ENST00000395925.3	-	15	3973	c.3889C>T	c.(3889-3891)Ctg>Ttg	p.L1297L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1297					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCTACCGGCAGGCCGAAATTC	0.637000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				9	17					0	0	0.000442599	0	0
TMEM130	222865	broad.mit.edu	37	7	98452871	98452871	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:98452871G>A	ENST00000450876.1	-	5	1858	c.543C>T	c.(541-543)ttC>ttT	p.F181F	TMEM130_ENST00000339375.4_Silent_p.F265F|TMEM130_ENST00000416379.2_Silent_p.F265F|TMEM130_ENST00000546258.1_Silent_p.F246F|TMEM130_ENST00000345589.4_Silent_p.F163F			Q8N3G9	TM130_HUMAN	transmembrane protein 130	265	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTCCCCAGGAAGTTCAAGG	0.572000													12	15					0	0	0.00010058	0	0
DNAH7	56171	broad.mit.edu	37	2	196729544	196729544	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:196729544C>T	ENST00000312428.6	-	41	6935	c.6835G>A	c.(6835-6837)Gag>Aag	p.E2279K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2279					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGGTATCCTCCCTCTTGGGA	0.378000													21	49					0	0	0.000375601	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938803	119938803	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:119938803C>T	ENST00000297350.4	-	4	1125	c.747G>A	c.(745-747)caG>caA	p.Q249Q		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	249	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GCTGGAAAGTCTGTTCTTGTG	0.398000													86	73					0	0	0.000147903	0	0
XIRP2	129446	broad.mit.edu	37	2	168107877	168107877	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:168107877C>T	ENST00000409195.1	+	9	10064	c.9975C>T	c.(9973-9975)ttC>ttT	p.F3325F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.F3103F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F3325F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3150					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						CTGAAAATTTCGTGAATGACC	0.448000													16	21					0	0	0.000422831	0	0
HOMER1	9456	broad.mit.edu	37	5	78672008	78672008	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:78672008G>A	ENST00000334082.6	-	9	2331	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	HOMER1_ENST00000535690.1_Missense_Mutation_p.R123W|HOMER1_ENST00000508576.1_3'UTR|HOMER1_ENST00000282260.6_Missense_Mutation_p.R167W	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	297					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TCTTTGTTCCGAATTTCTACT	0.368000													22	42					0	0	0.000586117	0	0
FBXO15	201456	broad.mit.edu	37	18	71749176	71749176	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:71749176C>T	ENST00000269500.5	-	9	1356	c.1021G>A	c.(1021-1023)Gat>Aat	p.D341N	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Missense_Mutation_p.D417N	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	341										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ATACAGCCATCAAAAATATCA	0.284000													18	30					0	0	0.000295444	0	0
HOXA3	3200	broad.mit.edu	37	7	27150085	27150085	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:27150085C>T	ENST00000396352.4	-	2	374	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	HOXA3_ENST00000317201.2_Missense_Mutation_p.G59R|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	59					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GGGTGGCCCCCGGCGCTGGAG	0.701000													4	10					0	0	0.00024832	0	0
SEPSECS	51091	broad.mit.edu	37	4	25125802	25125802	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:25125802G>A	ENST00000382103.2	-	11	1329	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	SEPSECS_ENST00000302922.3_Silent_p.F340F	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	419					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	TAAAGCCTCTGAAAGTATAGC	0.408000													7	30					0	0	0.000157383	0	0
LMTK3	114783	broad.mit.edu	37	19	49012191	49012191	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:49012191G>A	ENST00000600059.1	-	5	701	c.474C>T	c.(472-474)ccC>ccT	p.P158P	LMTK3_ENST00000270238.3_Silent_p.P187P					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCACCTGGGCGGGGGTGTAGT	0.637000													13	33					0	0	0.000308642	0	0
ZNF76	7629	broad.mit.edu	37	6	35258483	35258483	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:35258483C>T	ENST00000373953.3	+	7	881	c.615C>T	c.(613-615)gcC>gcT	p.A205A	ZNF76_ENST00000440666.2_Silent_p.A179A|ZNF76_ENST00000339411.5_Silent_p.A205A	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	205					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTGGAAAGGCCTTTGCCACAG	0.547000													11	32					0	0	0.000151284	0	0
ZNF451	26036	broad.mit.edu	37	6	57012296	57012296	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:57012296C>T	ENST00000370706.4	+	10	1657	c.1413C>T	c.(1411-1413)acC>acT	p.T471T	ZNF451_ENST00000491832.2_Silent_p.T471T|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000357489.3_Silent_p.T471T|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TAGTTAAAACCTGGTTCTGTG	0.383000													12	24					0	0	0.00010058	0	0
SLC15A2	6565	broad.mit.edu	37	3	121613396	121613396	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:121613396C>T	ENST00000489711.1	+	1	461	c.73C>T	c.(73-75)Cga>Tga	p.R25*	SLC15A2_ENST00000295605.2_Nonsense_Mutation_p.R25*	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	25					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GGTACCACCTCGACCACCTAG	0.502000													44	62					0	0	0.000147903	0	0
KIAA1328	57536	broad.mit.edu	37	18	34647250	34647250	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:34647250C>T	ENST00000591619.1	+	7	1748	c.962C>T	c.(961-963)cCt>cTt	p.P321L	KIAA1328_ENST00000586501.1_Missense_Mutation_p.P41L|KIAA1328_ENST00000435985.2_Missense_Mutation_p.P41L|KIAA1328_ENST00000280020.5_Missense_Mutation_p.P325L|KIAA1328_ENST00000586135.1_Missense_Mutation_p.P41L|KIAA1328_ENST00000543923.1_Missense_Mutation_p.P217L			Q86T90	K1328_HUMAN	KIAA1328	325										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AACATGACCCCTCAACATCCT	0.473000													11	26					0	0	0.000422831	0	0
STEAP2	261729	broad.mit.edu	37	7	89861715	89861715	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:89861715G>A	ENST00000287908.3	+	5	1643	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	STEAP2_ENST00000394621.2_Missense_Mutation_p.R417Q|STEAP2_ENST00000394629.2_Missense_Mutation_p.R417Q|STEAP2_ENST00000394622.2_Missense_Mutation_p.R417Q|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000394626.1_Missense_Mutation_p.R417Q	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	417					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GGATGGAAACGAGCTTTTGAG	0.368000													9	16					0	0	0.000274275	0	0
FAM65B	9750	broad.mit.edu	37	6	24874004	24874004	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:24874004G>A	ENST00000259698.4	-	3	300	c.125C>T	c.(124-126)tCc>tTc	p.S42F	FAM65B_ENST00000538035.1_Missense_Mutation_p.S71F|FAM65B_ENST00000540914.1_Missense_Mutation_p.S42F|FAM65B_ENST00000510784.2_Missense_Mutation_p.S76F|FAM65B_ENST00000378023.4_Missense_Mutation_p.S42F	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	42					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GAGAGCGGAGGAATTTTCAAT	0.408000													12	44					0	0	0.000151284	0	0
ATAD5	79915	broad.mit.edu	37	17	29162877	29162877	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:29162877C>G	ENST00000321990.4	+	2	2156	c.1778C>G	c.(1777-1779)tCa>tGa	p.S593*	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	593					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ACGCCCAAGTCAACTAGAAGA	0.383000													15	57					0	0	0.000566183	0	0
FFAR4	338557	broad.mit.edu	37	10	95335922	95335922	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:95335922G>A	ENST00000371483.4	+	2	698	c.642G>A	c.(640-642)ttG>ttA	p.L214L	FFAR4_ENST00000604414.1_Silent_p.L214L|FFAR4_ENST00000371481.4_Silent_p.L214L	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		TTGTTACTTTGAACTTCTTGG	0.433000													18	55					0	0	0.000132079	0	0
FCHO1	23149	broad.mit.edu	37	19	17881371	17881371	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:17881371G>A	ENST00000594202.1	+	8	753	c.474G>A	c.(472-474)caG>caA	p.Q158Q	FCHO1_ENST00000389133.4_Silent_p.Q158Q|FCHO1_ENST00000252771.7_Silent_p.Q158Q|FCHO1_ENST00000600676.1_Silent_p.Q158Q|FCHO1_ENST00000597512.1_Silent_p.Q165Q|FCHO1_ENST00000595033.1_Silent_p.Q108Q|FCHO1_ENST00000596951.1_Silent_p.Q158Q|FCHO1_ENST00000596536.1_Silent_p.Q158Q|FCHO1_ENST00000539407.1_Silent_p.Q158Q	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	158										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GTACCAGCCAGAAGGAGATGG	0.627000													12	13					0	0	0.000219431	0	0
DDX58	23586	broad.mit.edu	37	9	32500834	32500834	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:32500834G>A	ENST00000379883.2	-	2	367	c.210C>T	c.(208-210)ttC>ttT	p.F70F	DDX58_ENST00000379882.1_Intron|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000542096.1_5'UTR	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	70	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		AAAAGCCACGGAACCAGCCTT	0.443000													30	20					0	0	0.000227799	0	0
EPHB2	2048	broad.mit.edu	37	1	23222925	23222925	+	Silent	SNP	T	T	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:23222925T>C	ENST00000400191.3	+	9	1737	c.1719T>C	c.(1717-1719)gcT>gcC	p.A573A	EPHB2_ENST00000374632.3_Silent_p.A574A|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.A568A|EPHB2_ENST00000374630.3_Silent_p.A573A	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	573					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTGAGCGTGCTGACTCGGAGT	0.602000													7	16					0	0	0.000442599	0	0
RIMS1	22999	broad.mit.edu	37	6	72678710	72678710	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:72678710G>A	ENST00000264839.7	+	2	189	c.189G>A	c.(187-189)aaG>aaA	p.K63K	RIMS1_ENST00000491071.2_Silent_p.K63K|RIMS1_ENST00000518273.1_Silent_p.K63K|RIMS1_ENST00000522291.1_Silent_p.K63K|RIMS1_ENST00000348717.5_Silent_p.K63K|RIMS1_ENST00000521978.1_Silent_p.K63K|RIMS1_ENST00000520567.1_Silent_p.K63K|RIMS1_ENST00000517960.1_Silent_p.K63K			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	63	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACATGGCGAAGCCTGCTGCCT	0.448000													5	34					0	0	8.12818e-05	0	0
CDRT1	374286	broad.mit.edu	37	17	15518999	15518999	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:15518999G>A	ENST00000455584.2	-	8	1603	c.1560C>T	c.(1558-1560)gcC>gcT	p.A520A	CDRT1_ENST00000395906.3_Silent_p.A210A																							CATTTTCTGGGGCTTTGGACA	0.498000													7	9					0	0	8.12818e-05	0	0
PCLO	27445	broad.mit.edu	37	7	82584459	82584459	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:82584459C>T	ENST00000423517.2	-	5	6147	c.5810G>A	c.(5809-5811)cGa>cAa	p.R1937Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R1937Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1868					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTTCATCTCGTTCATTTGC	0.363000													36	42					0	0	0.000228196	0	0
PES1	23481	broad.mit.edu	37	22	30974944	30974944	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:30974944C>T	ENST00000402281.1	-	16	2137	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	PES1_ENST00000405677.1_Silent_p.K382K|PES1_ENST00000402284.3_Silent_p.K504K|PES1_ENST00000354694.6_Silent_p.K521K|PES1_ENST00000335214.6_Silent_p.K516K			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	521	BRCT.|Sufficient for interaction with MAP1B (By similarity).				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCAGCCGCTGCTTATCCTCCA	0.582000													8	21					0	0	0.000274275	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097045	69097045	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:69097045C>T	ENST00000332644.5	-	7	723	c.562G>A	c.(562-564)Gga>Aga	p.G188R		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	188	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GAGCTTTTTCCATTCACAATT	0.488000													9	36					0	0	0.000442599	0	0
DGKI	9162	broad.mit.edu	37	7	137271890	137271890	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:137271890G>A	ENST00000453654.1	-	13	1017	c.478C>T	c.(478-480)Cct>Tct	p.P160S	DGKI_ENST00000446122.1_Missense_Mutation_p.P460S|DGKI_ENST00000424189.2_Missense_Mutation_p.P460S|DGKI_ENST00000288490.5_Missense_Mutation_p.P460S			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	460				A -> P (in Ref. 3; AAF43006).	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GTCCCCAGAGGAAGGACCCCC	0.567000													7	9					0	0	8.12818e-05	0	0
AK9	221264	broad.mit.edu	37	6	109850220	109850220	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:109850220C>T	ENST00000424296.2	-	29	3703	c.3627G>A	c.(3625-3627)agG>agA	p.R1209R	AK9_ENST00000341338.6_Silent_p.R288R|AK9_ENST00000355283.1_Silent_p.R288R	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TTACCTCCCTCCTTTTTTTAT	0.378000													6	25					0	0	8.12818e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13769652	13769652	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:13769652C>T	ENST00000265104.4	-	57	9782	c.9678G>A	c.(9676-9678)gcG>gcA	p.A3226A	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3226	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTTTTCTTTCGCTTCCAGTT	0.433000									Kartagener syndrome				47	68					0	0	0.000147903	0	0
MDN1	23195	broad.mit.edu	37	6	90363971	90363971	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:90363971C>T	ENST00000369393.3	-	93	15688	c.15573G>A	c.(15571-15573)atG>atA	p.M5191I	MDN1_ENST00000428876.1_Missense_Mutation_p.M5191I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5191					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTCTGTGTCCATAAGGGTGT	0.532000													60	61					0	0	0.000147903	0	0
RNF213	57674	broad.mit.edu	37	17	78319813	78319813	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:78319813C>T	ENST00000582970.1	+	29	7821	c.7678C>T	c.(7678-7680)Cct>Tct	p.P2560S	RNF213_ENST00000508628.2_Missense_Mutation_p.P2609S|RNF213_ENST00000336301.6_Missense_Mutation_p.P633S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGCTCCATTCCTCTGAGGCA	0.562000													11	15					0	0	6.40141e-05	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734154	28734154	+	RNA	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:28734154C>T	ENST00000550043.1	+	0	559																											CCAAGGAGTTCCTCTTTAAAC	0.463000													14	6					0	0	0.000308642	0	0
THY1	7070	broad.mit.edu	37	11	119290151	119290151	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:119290151G>A	ENST00000284240.5	-	4	1492	c.453C>T	c.(451-453)tcC>tcT	p.S151S	THY1_ENST00000528522.1_Silent_p.S151S|THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000580275.1_Silent_p.S134S|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000578923.1_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	151					angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		CCTGGAGGAGGGAGAGGGAGA	0.587000													11	18					0	0	6.40141e-05	0	0
CASR	846	broad.mit.edu	37	3	121981094	121981094	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:121981094C>T	ENST00000498619.1	+	4	1650	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	CASR_ENST00000296154.5_Silent_p.V404V|CASR_ENST00000490131.1_Silent_p.V404V	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	404					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCAGCAGTGTCGAGACCCCTT	0.483000													5	19					0	0	8.12818e-05	0	0
C5orf28	64417	broad.mit.edu	37	5	43446579	43446579	+	Silent	SNP	A	A	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:43446579A>G	ENST00000500337.2	-	5	724	c.393T>C	c.(391-393)acT>acC	p.T131T	C5orf28_ENST00000397080.3_Silent_p.T131T|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000512085.1_Silent_p.T131T|C5orf28_ENST00000510130.1_Silent_p.T29T|C5orf28_ENST00000537319.1_5'UTR			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	131						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAAGGTGCATAGTAAATTTCA	0.448000													18	39					0	0	0.000175454	0	0
PTPRN	5798	broad.mit.edu	37	2	220164775	220164775	+	Silent	SNP	G	G	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:220164775G>T	ENST00000295718.2	-	9	1608	c.1368C>A	c.(1366-1368)ccC>ccA	p.P456P	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.P456P|PTPRN_ENST00000423636.2_Silent_p.P366P	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	456					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTGCCACCGTGGGCTGGCTCT	0.602000													17	26					1.37522e-17	2.92033e-16	9.7654e-05	1	0
TANC2	26115	broad.mit.edu	37	17	61498624	61498624	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:61498624G>A	ENST00000424789.2	+	25	5285	c.5281G>A	c.(5281-5283)Gaa>Aaa	p.E1761K	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.E1771K	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1761							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAACCCTAACGAAATCAAACC	0.507000													20	31					0	0	0.000132079	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72462080	72462080	+	Missense_Mutation	SNP	C	C	T	rs34022601	byFrequency	TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:72462080C>T	ENST00000373208.1	+	3	535	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R179C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	179			R -> C (in dbSNP:rs34022601).		collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGGCCTCATCCGCACAGACAG	0.607000													11	19					0	0	0.00010058	0	0
SACS	26278	broad.mit.edu	37	13	23915544	23915544	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr13:23915544G>A	ENST00000382298.3	-	10	3059	c.2471C>T	c.(2470-2472)tCg>tTg	p.S824L	SACS_ENST00000402364.1_Missense_Mutation_p.S74L|SACS_ENST00000382292.3_Missense_Mutation_p.S824L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	824				QTCVELIRLRIPSLVILDDES -> FLFDEDSNGKLKMVAV LITSC (in Ref. 3; CAE45964).	cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGACTAACGATGGAATCCT	0.383000													29	47					0	0	0.000339439	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559473	20559473	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:20559473C>T	ENST00000329697.6	-	8	1177	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	ACSM2B_ENST00000567001.1_Missense_Mutation_p.G337R|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G258R|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.G337R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	337					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GACTCCCCTCCAGCGAGGCAG	0.522000													23	36					0	0	9.22233e-05	0	0
DPYS	1807	broad.mit.edu	37	8	105456640	105456640	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:105456640C>T	ENST00000351513.2	-	4	761	c.629G>A	c.(628-630)gGg>gAg	p.G210E		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	210					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCTGTTATCCCCAGAGCCAA	0.498000													11	34					0	0	0.00010058	0	0
C1orf173	127254	broad.mit.edu	37	1	75039116	75039116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:75039116G>A	ENST00000326665.5	-	14	2496	c.2278C>T	c.(2278-2280)Cag>Tag	p.Q760*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	760	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACCAATTGCTGGGATTCCTTG	0.398000													7	33					0	0	0.000157383	0	0
MYLK	4638	broad.mit.edu	37	3	123452564	123452564	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:123452564C>T	ENST00000360772.3	-	11	1657	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	MYLK_ENST00000360304.3_Missense_Mutation_p.E427K|MYLK_ENST00000475616.1_Missense_Mutation_p.E427K|MYLK_ENST00000346322.5_Missense_Mutation_p.E427K|MYLK_ENST00000359169.1_Missense_Mutation_p.E427K			Q15746	MYLK_HUMAN	myosin light chain kinase	427	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTTTGATTTTCCTTGACCTCC	0.507000													12	58					0	0	0.000219431	0	0
ARSH	347527	broad.mit.edu	37	X	2933279	2933279	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:2933279C>T	ENST00000381130.2	+	4	609	c.609C>T	c.(607-609)ctC>ctT	p.L203L		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	203						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTGCTCTCCTCGCCTTTCTGT	0.478000													8	1					0	0	0.000157383	0	0
OXCT1	5019	broad.mit.edu	37	5	41842835	41842835	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:41842835C>T	ENST00000196371.5	-	6	773	c.613G>A	c.(613-615)Ggg>Agg	p.G205R	OXCT1_ENST00000509987.1_Missense_Mutation_p.G19R	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	205					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GCAAAATCCCCTGTAATTGCT	0.443000													44	78					0	0	0.000147903	0	0
CELSR3	1951	broad.mit.edu	37	3	48697976	48697976	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:48697976G>A	ENST00000544264.1	-	1	2372	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	CELSR3_ENST00000164024.4_Missense_Mutation_p.P698S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	698	Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATCACAAAAGGAGTATCAGGT	0.542000													9	13					0	0	0.000274275	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821039	35821039	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:35821039C>T	ENST00000399989.1	+	2	1005	c.726C>T	c.(724-726)atC>atT	p.I242I	MAGEB16_ENST00000399988.1_Silent_p.I242I|MAGEB16_ENST00000399985.1_Silent_p.I242I|MAGEB16_ENST00000399992.1_Silent_p.I274I|MAGEB16_ENST00000399987.1_Silent_p.I242I	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	242	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGCACTTCATCTTTGGAGAGC	0.488000													5	5					0	0	3.59834e-05	0	0
ALDH2	217	broad.mit.edu	37	12	112221087	112221087	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:112221087C>T	ENST00000546840.2	+	4	335	c.335C>T	c.(334-336)aCc>aTc	p.T112I	ALDH2_ENST00000416293.3_Intron|ALDH2_ENST00000261733.2_Silent_p.D115D																							TCGAGCGGGACCGGACCTACC	0.662000													5	23					0	0	1.23904e-05	0	0
MIR495	574453	broad.mit.edu	37	14	101500125	101500125	+	RNA	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:101500125C>T	ENST00000385010.1	+	0	34					NR_030175.1																						ATGTTATTTTCGCTTTATATG	0.522000													6	5					0	0	0.000157383	0	0
CCDC61	729440	broad.mit.edu	37	19	46509959	46509959	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:46509959C>T	ENST00000263284.2	+	5	545	c.545C>T	c.(544-546)tCc>tTc	p.S182F	CCDC61_ENST00000536603.1_Missense_Mutation_p.S125F|CCDC61_ENST00000595358.1_Missense_Mutation_p.S125F|CCDC61_ENST00000594087.1_Missense_Mutation_p.S125F					coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CTCATCTACTCCGTGGAGTTT	0.667000													23	23					0	0	0.00047179	0	0
IQCA1	79781	broad.mit.edu	37	2	237308114	237308114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:237308114C>T	ENST00000409907.3	-	9	1426	c.1152G>A	c.(1150-1152)tgG>tgA	p.W384*	IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000431676.2_Nonsense_Mutation_p.W343*|IQCA1_ENST00000309507.5_Nonsense_Mutation_p.W380*			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	384	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GTGACATTTTCCATTTTTCGT	0.458000													12	61					0	0	0.00010058	0	0
GH1	2688	broad.mit.edu	37	17	61995207	61995207	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:61995207G>A	ENST00000323322.5	-	4	411	c.369C>T	c.(367-369)ttC>ttT	p.F123F	GH1_ENST00000342364.4_Intron|GH1_ENST00000351388.4_Silent_p.F83F|GH1_ENST00000458650.2_Silent_p.F108F|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	123					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGCTGTTGGCGAAGACACTCC	0.607000													23	13					0	0	0.00047179	0	0
ERBB4	2066	broad.mit.edu	37	2	212495299	212495299	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:212495299C>T	ENST00000342788.4	-	17	2277	c.1967G>A	c.(1966-1968)gGa>gAa	p.G656E	ERBB4_ENST00000436443.1_Missense_Mutation_p.G656E|ERBB4_ENST00000402597.1_Missense_Mutation_p.G646E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	656					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACCAATTACTCCAGCTGCAAT	0.393000										TSP Lung(8;0.080)			7	39					0	0	0.000274275	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219629	134219629	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:134219629C>T	ENST00000305233.5	+	2	1684	c.1625C>T	c.(1624-1626)tCa>tTa	p.S542L	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	542	PWWP.							p.S542*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TTGTCTATTTCAAAACTCTCC	0.478000													9	25					0	0	0.000442599	0	0
TM6SF1	53346	broad.mit.edu	37	15	83791518	83791518	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr15:83791518G>A	ENST00000322019.9	+	6	765	c.491G>A	c.(490-492)gGa>gAa	p.G164E	TM6SF1_ENST00000379390.6_Intron|TM6SF1_ENST00000379386.4_Missense_Mutation_p.G167E|TM6SF1_ENST00000565774.1_Missense_Mutation_p.G164E			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	164						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GGGAAGTATGGAACACGAATT	0.353000													22	18					0	0	0.000586117	0	0
LGI2	55203	broad.mit.edu	37	4	25026478	25026478	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:25026478C>T	ENST00000382114.4	-	4	562	c.377G>A	c.(376-378)aGa>aAa	p.R126K		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	126						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AAAGGCATTTCTTGAAATGGT	0.368000													16	30					0	0	0.000132079	0	0
NDST2	8509	broad.mit.edu	37	10	75567585	75567585	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:75567585G>A	ENST00000299641.4	-	4	1163	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	NDST2_ENST00000309979.6_Missense_Mutation_p.P188S	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	188	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AAAAAAAGGGGAAAGCCCTTG	0.582000													6	11					0	0	3.59834e-05	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													8	54					0	0	0.000274275	0	0
OR1N1	138883	broad.mit.edu	37	9	125289385	125289385	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:125289385T>C	ENST00000304880.2	-	1	187	c.188A>G	c.(187-189)aAc>aGc	p.N63S		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AAAAGACAGGTTGGCCAAGAA	0.498000													15	12					0	0	0.000566183	0	0
KCNH6	81033	broad.mit.edu	37	17	61623084	61623084	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:61623084G>A	ENST00000583023.1	+	14	2817	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	KCNH6_ENST00000314672.5_Missense_Mutation_p.E900K|KCNH6_ENST00000581784.1_Missense_Mutation_p.E847K|KCNH6_ENST00000456941.2_Missense_Mutation_p.E847K	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	936					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTCAGAACAGGAACAGCCTGA	0.572000													4	22					0	0	1.23904e-05	0	0
USP48	84196	broad.mit.edu	37	1	22033010	22033010	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:22033010G>A	ENST00000308271.9	-	17	2809	c.2161C>T	c.(2161-2163)Cca>Tca	p.P721S	USP48_ENST00000400301.1_Missense_Mutation_p.P721S|USP48_ENST00000374732.3_Missense_Mutation_p.P259S|USP48_ENST00000529637.1_Missense_Mutation_p.P733S	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	721	DUSP 3.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AACAAATTTGGGAGAGAAGTC	0.378000													32	30					0	0	0.000409698	0	0
USP2	9099	broad.mit.edu	37	11	119229735	119229735	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:119229735G>A	ENST00000260187.2	-	6	1465	c.1172_splice	c.e6+1	p.P391_splice	USP2_ENST00000455332.2_Splice_Site_p.P148_splice|USP2_ENST00000525735.1_Splice_Site_p.P182_splice	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	391					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CTTACTTACGGAAGATGATCG	0.448000													15	18					0	0	0.000566183	0	0
LMOD2	442721	broad.mit.edu	37	7	123302492	123302492	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:123302492G>A	ENST00000458573.2	+	2	1009	c.852G>A	c.(850-852)ggG>ggA	p.G284G	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	284						cytoskeleton	actin binding|tropomyosin binding										CGGGAAAGGGGATCCTGGCCA	0.537000													41	15					0	0	0.000589545	0	0
STOML2	30968	broad.mit.edu	37	9	35100138	35100138	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:35100138G>A	ENST00000356493.5	-	10	1027	c.965C>T	c.(964-966)gCc>gTc	p.A322V	STOML2_ENST00000452248.2_Missense_Mutation_p.A277V	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	322						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGGCACTGGGGCTTTGGTGAG	0.542000													30	22					0	0	0.000491102	0	0
TPCN1	53373	broad.mit.edu	37	12	113724876	113724876	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:113724876C>T	ENST00000550785.1	+	20	1996	c.1827C>T	c.(1825-1827)gtC>gtT	p.V609V	TPCN1_ENST00000392569.4_Silent_p.V469V|TPCN1_ENST00000541517.1_Silent_p.V609V|TPCN1_ENST00000335509.6_Silent_p.V537V	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	537						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCATCGTGGTCCTGCGCCCCC	0.612000													8	24					0	0	0.000274275	0	0
MYOF	26509	broad.mit.edu	37	10	95116542	95116542	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:95116542G>A	ENST00000371501.4	-	30	3306	c.3184C>T	c.(3184-3186)Cac>Tac	p.H1062Y	MYOF_ENST00000359263.4_Missense_Mutation_p.H1062Y|MYOF_ENST00000358334.5_Missense_Mutation_p.H1049Y|MYOF_ENST00000371502.4_Missense_Mutation_p.H1062Y			Q9NZM1	MYOF_HUMAN	myoferlin	1062					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTTTCCAGTGAAATTTCCAG	0.443000													9	28					0	0	0.000442599	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951000	235951000	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:235951000C>T	ENST00000409212.1	+	4	2094	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	SH3BP4_ENST00000344528.4_Silent_p.F529F|SH3BP4_ENST00000392011.2_Silent_p.F529F			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	529					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.F529F(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGCACCAGTTCGTTTTGTCCA	0.592000													12	9					0	0	0.000219431	0	0
OR8K3	219473	broad.mit.edu	37	11	56086116	56086116	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:56086116C>T	ENST00000312711.1	+	1	334	c.334C>T	c.(334-336)Ctt>Ttt	p.L112F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGGTAGTGAACTTTTTATTCT	0.378000													30	52					0	0	0.000409698	0	0
TGFA	7039	broad.mit.edu	37	2	70680389	70680389	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:70680389G>A	ENST00000295400.6	-	5	683	c.436C>T	c.(436-438)Ctc>Ttc	p.L146F	TGFA_ENST00000450929.1_Missense_Mutation_p.L151F|TGFA_ENST00000418333.2_Missense_Mutation_p.L145F|TGFA_ENST00000445399.1_Missense_Mutation_p.L145F|TGFA_ENST00000444975.1_Missense_Mutation_p.L152F	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	146					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CCCTTCAGGAGGGCGCTGGGC	0.587000													13	30					0	0	0.000566183	0	0
OR5B12	390191	broad.mit.edu	37	11	58207358	58207358	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:58207358G>A	ENST00000302572.2	-	1	288	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F89L(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TATATAATATGAATTTGTCTC	0.453000													5	12					0	0	3.59834e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9085314	9085314	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:9085314C>T	ENST00000397910.4	-	1	6704	c.6501G>A	c.(6499-6501)ccG>ccA	p.P2167P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2167	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						TGCCTAAACTCGGGTTAGCAG	0.468000													12	20					0	0	6.40141e-05	0	0
TNRC6B	23112	broad.mit.edu	37	22	40681768	40681768	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:40681768C>T	ENST00000454349.2	+	12	3913	c.3702C>T	c.(3700-3702)tcC>tcT	p.S1234S	TNRC6B_ENST00000335727.8_Silent_p.S1124S|TNRC6B_ENST00000301923.9_Silent_p.S430S|TNRC6B_ENST00000402203.1_Silent_p.S430S|TNRC6B_ENST00000497559.1_3'UTR	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						AGTTTATTTCCCCCCAGGTAA	0.448000													44	62					0	0	0.000147903	0	0
SYT12	91683	broad.mit.edu	37	11	66807333	66807333	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:66807333C>T	ENST00000393946.2	+	7	1442	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	SYT12_ENST00000527043.1_Missense_Mutation_p.R94C|SYT12_ENST00000525457.1_Missense_Mutation_p.R94C|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	94						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						ACCACCCAGCCGCAAAGGCAG	0.632000													18	33					0	0	0.000175454	0	0
DIS3L2	129563	broad.mit.edu	37	2	233001212	233001212	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:233001212C>T	ENST00000325385.7	+	8	1009	c.733C>T	c.(733-735)Cga>Tga	p.R245*	DIS3L2_ENST00000360410.4_Silent_p.L264L|DIS3L2_ENST00000409307.1_Nonsense_Mutation_p.R245*|DIS3L2_ENST00000273009.6_Nonsense_Mutation_p.R245*	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	245							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AAAACATTCTCGAGCAGCAAC	0.433000													9	47					0	0	0.000442599	0	0
ST18	9705	broad.mit.edu	37	8	53073958	53073958	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:53073958C>T	ENST00000276480.7	-	14	2254	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	524						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R524Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGTGTTTTTCGTCCTTGCAC	0.438000													33	32					0	0	0.000132358	0	0
SLFN11	91607	broad.mit.edu	37	17	33679391	33679391	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:33679391G>A	ENST00000394566.1	-	7	2962	c.2690C>T	c.(2689-2691)cCg>cTg	p.P897L	SLFN11_ENST00000308377.4_Missense_Mutation_p.P897L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	897						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCACCCCACGGAAAAATATA	0.433000													13	45					0	0	0.000566183	0	0
ATP2A2	488	broad.mit.edu	37	12	110760812	110760812	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:110760812C>T	ENST00000308664.6	+	6	1153	c.479C>T	c.(478-480)cCt>cTt	p.P160L	ATP2A2_ENST00000550248.2_3'UTR|ATP2A2_ENST00000539276.2_Missense_Mutation_p.P160L|ATP2A2_ENST00000395494.2_Intron	NM_001681.3|NM_170665.3	NP_001672.1|NP_733765.1	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	160			P -> L (in DD).		ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GACAAAGTTCCTGCTGATATA	0.318000													27	43					0	0	0.000227799	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573489	140573489	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:140573489C>T	ENST00000239446.4	+	1	1548	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		455					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACCTCCTACACCCTG	0.617000													17	26					0	0	0.000175454	0	0
ZNF208	7757	broad.mit.edu	37	19	22157600	22157600	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:22157600G>A	ENST00000397126.4	-	4	384	c.236C>T	c.(235-237)tCt>tTt	p.S79F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Missense_Mutation_p.S79F	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCAAAATGAGAACATATAAC	0.299000													5	14					0	0	1.23904e-05	0	0
TFF1	7031	broad.mit.edu	37	21	43783454	43783454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr21:43783454G>A	ENST00000291527.2	-	2	246	c.148C>T	c.(148-150)Cag>Tag	p.Q50*		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	50	P-type.				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						TTTGCACACTGGGAGGGCGTG	0.532000													6	15					0	0	8.12818e-05	0	0
KRT39	390792	broad.mit.edu	37	17	39122700	39122700	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:39122700G>A	ENST00000355612.2	-	1	444	c.409C>T	c.(409-411)Cct>Tct	p.P137S	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	137	Linker 1.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CATAGAACAGGGAGCTCTTTG	0.428000													14	82					0	0	0.000219431	0	0
TBX20	57057	broad.mit.edu	37	7	35244193	35244193	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:35244193C>T	ENST00000408931.3	-	7	1418	c.890_splice	c.e7-1	p.E298_splice		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	298						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TCCACACTTTCCCTAGGTTAG	0.438000													7	9					0	0	0.000442599	0	0
KYNU	8942	broad.mit.edu	37	2	143676226	143676226	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:143676226G>A	ENST00000264170.4	+	3	476	c.218G>A	c.(217-219)gGa>gAa	p.G73E	KYNU_ENST00000375773.2_Missense_Mutation_p.G73E|KYNU_ENST00000409512.1_Missense_Mutation_p.G73E|KYNU_ENST00000410015.2_Missense_Mutation_p.G73E	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	73					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TATTTCTTGGGAAATTCTCTT	0.279000													18	20					0	0	0.000566183	0	0
IL1RL1	9173	broad.mit.edu	37	2	102955354	102955354	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:102955354G>A	ENST00000311734.2	+	3	458	c.119G>A	c.(118-120)gGa>gAa	p.G40E	IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000233954.1_Missense_Mutation_p.G40E|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000393393.3_Missense_Mutation_p.G40E|IL1RL1_ENST00000409584.1_Missense_Mutation_p.G40E			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	40	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTAGACAAGGAAAACCTAGT	0.383000													17	55					0	0	7.07596e-05	0	0
SLC36A3	285641	broad.mit.edu	37	5	150657223	150657223	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:150657223C>T	ENST00000335230.3	-	10	1556		c.e10-1		SLC36A3_ENST00000377713.3_Splice_Site	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3							integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGAGACACCTGCAATGAAA	0.532000													7	14					0	0	0.000442599	0	0
IQSEC2	23096	broad.mit.edu	37	X	53268417	53268417	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:53268417G>A	ENST00000396435.3	-	11	3275	c.3075C>T	c.(3073-3075)ttC>ttT	p.F1025F	IQSEC2_ENST00000375368.5_Silent_p.F1015F|IQSEC2_ENST00000375365.2_Silent_p.F820F	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1015	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCACGAGGGGGAAAGACTGAC	0.512000											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	5					0	0	0.00047179	0	0
SUZ12	23512	broad.mit.edu	37	17	30325968	30325968	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:30325968G>A	ENST00000322652.5	+	16	2395	c.2166G>A	c.(2164-2166)ttG>ttA	p.L722L	SUZ12_ENST00000580398.1_Silent_p.L699L	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	722					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AGAAAGCTTTGGAAACAGATA	0.363000			T	JAZF1	endometrial stromal tumours								6	22					0	0	0.000274275	0	0
SEZ6	124925	broad.mit.edu	37	17	27308689	27308689	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:27308689G>A	ENST00000317338.12	-	2	852	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	SEZ6_ENST00000442608.3_Missense_Mutation_p.P142S|SEZ6_ENST00000360295.9_Missense_Mutation_p.P142S|SEZ6_ENST00000335960.6_Missense_Mutation_p.P142S|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	142	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TCTGACTCCGGACTCCAGGGT	0.652000													4	9					0	0	0.00024832	0	0
LRIG3	121227	broad.mit.edu	37	12	59266385	59266385	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:59266385G>A	ENST00000320743.3	-	19	3615	c.3329C>T	c.(3328-3330)cCa>cTa	p.P1110L	LRIG3_ENST00000379141.4_Missense_Mutation_p.P1050L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1110						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGAAAATTTGGAGTCCTGTA	0.358000			T	ROS1	NSCLC								29	23					0	0	0.000117367	0	0
HEPN1	641654	broad.mit.edu	37	11	124789780	124789780	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:124789780C>T	ENST00000408930.5	+	1	635	c.134C>T	c.(133-135)tCt>tTt	p.S45F	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	45						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		GCCTCCTTCTCTTTCAGCTTT	0.502000													15	11					0	0	0.000308642	0	0
FAT4	79633	broad.mit.edu	37	4	126328195	126328195	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:126328195C>T	ENST00000394329.3	+	3	5481	c.5468C>T	c.(5467-5469)tCg>tTg	p.S1823L	FAT4_ENST00000335110.5_Missense_Mutation_p.S121L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1823	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCAGTCCTCGGATATGAGA	0.473000													9	39					0	0	0.000442599	0	0
XIST	7503	broad.mit.edu	37	X	73063782	73063782	+	RNA	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:73063782C>T	ENST00000429829.1	-	0	8806					NR_001564.2																						TGTTGATAGTCCACCAGAAGG	0.403000													11	3					0	0	3.86212e-05	0	0
TRAV26-1	28657	broad.mit.edu	37	14	22592173	22592173	+	RNA	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:22592173G>A	ENST00000390455.3	+	0	467																											AAGACAGAAAGTCCAGCACCT	0.498000													9	4					0	0	0.000274275	0	0
PRPF40B	25766	broad.mit.edu	37	12	50025232	50025232	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:50025232C>T	ENST00000261897.1	+	2	600	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	PRPF40B_ENST00000380281.1_Missense_Mutation_p.P23S|PRPF40B_ENST00000548825.2_Missense_Mutation_p.P45S			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	23	Pro-rich.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGGGCTACCCCCCATGAGTCA	0.592000													7	27					0	0	0.000157383	0	0
MCHR2	84539	broad.mit.edu	37	6	100395747	100395747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:100395747G>A	ENST00000281806.2	-	3	597	c.283C>T	c.(283-285)Cga>Tga	p.R95*	MCHR2_ENST00000445970.1_Nonsense_Mutation_p.R95*|MCHR2_ENST00000369212.1_Nonsense_Mutation_p.R95*	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	95						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R95*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCTCCCCCTCGGGCCCATTGG	0.488000													6	23					0	0	3.59834e-05	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712768	70712768	+	RNA	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:70712768C>T	ENST00000530196.1	-	0	1750					NR_003951.1																						AAAACGGTTTCCCTGAGAGTT	0.388000													24	62					0	0	0.00047179	0	0
LVRN	206338	broad.mit.edu	37	5	115319054	115319054	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:115319054C>T	ENST00000357872.4	+	2	890	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		256					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TGAGCCAGCTCTGAAGGCAAC	0.398000													20	14					0	0	0.000132079	0	0
CDR1	1038	broad.mit.edu	37	X	139865886	139865886	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:139865886C>T	ENST00000370532.2	-	1	837	c.646G>A	c.(646-648)Gga>Aga	p.G216R		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	216										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCAGGTCTTCCAGTCAATCCA	0.438000													21	11					0	0	0.000375601	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216483	20216483	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:20216483G>A	ENST00000331723.1	+	1	897	c.897G>A	c.(895-897)atG>atA	p.M299I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGACAGCTATGAAGAAGCTGA	0.388000													10	5					0	0	3.86212e-05	0	0
USP2	9099	broad.mit.edu	37	11	119229734	119229734	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:119229734G>A	ENST00000260187.2	-	6	1466	c.1172_splice	c.e6+1	p.P391_splice	USP2_ENST00000455332.2_Splice_Site_p.P148_splice|USP2_ENST00000525735.1_Splice_Site_p.P182_splice	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	391					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCTTACTTACGGAAGATGATC	0.453000													15	19					0	0	0.000566183	0	0
MDC1	9656	broad.mit.edu	37	6	30680224	30680224	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:30680224C>T	ENST00000376406.3	-	5	2142	c.1495G>A	c.(1495-1497)Gtg>Atg	p.V499M	MDC1_ENST00000376405.2_Missense_Mutation_p.V499M|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	499	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCTGCTTCCACACTGTCATCA	0.502000								Other conserved DNA damage response genes					24	36					0	0	0.000147802	0	0
AP2M1	1173	broad.mit.edu	37	3	183900604	183900604	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:183900604C>T	ENST00000382456.3	+	10	1429	c.1115C>T	c.(1114-1116)cCt>cTt	p.P372L	AP2M1_ENST00000411763.2_Missense_Mutation_p.P399L|AP2M1_ENST00000292807.5_Missense_Mutation_p.P374L|AP2M1_ENST00000439647.1_Missense_Mutation_p.P372L|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000461733.1_3'UTR	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	374	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGCTTCTGCCTACCAACGAC	0.552000													10	18					0	0	6.40141e-05	0	0
DRD2	1813	broad.mit.edu	37	11	113283578	113283578	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:113283578C>T	ENST00000362072.3	-	7	1182	c.838G>A	c.(838-840)Gag>Aag	p.E280K	DRD2_ENST00000542968.1_Missense_Mutation_p.E280K|DRD2_ENST00000346454.3_Missense_Mutation_p.E251K|DRD2_ENST00000355319.2_Missense_Mutation_p.E282K|DRD2_ENST00000538967.1_Missense_Mutation_p.E282K|DRD2_ENST00000544518.1_Missense_Mutation_p.E279K	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	280	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ATCTCCATCTCCAGCTCCTGG	0.672000													6	9					0	0	3.59834e-05	0	0
ZNF236	7776	broad.mit.edu	37	18	74639998	74639998	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:74639998G>A	ENST00000253159.8	+	25	4722	c.4524G>A	c.(4522-4524)caG>caA	p.Q1508Q	ZNF236_ENST00000320610.9_Silent_p.Q1510Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1508					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCCTGGCACAGGCCGCTGGGC	0.542000													14	25					0	0	0.000308642	0	0
SLC6A6	6533	broad.mit.edu	37	3	14485187	14485187	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:14485187G>A	ENST00000454876.2	+	3	374	c.45G>A	c.(43-45)aaG>aaA	p.K15K	SLC6A6_ENST00000416216.2_Silent_p.K15K|SLC6A6_ENST00000360861.3_Silent_p.K15K|SLC6A6_ENST00000484191.1_Intron			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	15					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						ATTTCCACAAGGACATCCTGA	0.562000													10	32					0	0	3.86212e-05	0	0
NPAS4	266743	broad.mit.edu	37	11	66192030	66192030	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:66192030C>T	ENST00000311034.2	+	7	1845	c.1669C>T	c.(1669-1671)Cct>Tct	p.P557S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	557					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GAGCCCCAACCCTACCAAGAC	0.582000													14	46					0	0	0.000151284	0	0
INHBA	3624	broad.mit.edu	37	7	41729763	41729763	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:41729763G>A	ENST00000242208.4	-	3	1012	c.766C>T	c.(766-768)Ctc>Ttc	p.L256F	INHBA_ENST00000442711.1_Missense_Mutation_p.L256F|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	256					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.V255_L256insR(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						tTGCCCAGGAGAACCAAGCTG	0.587000										TSP Lung(11;0.080)			9	17					0	0	0.000274275	0	0
AARD	441376	broad.mit.edu	37	8	117954886	117954886	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:117954886G>A	ENST00000378279.3	+	2	459	c.414G>A	c.(412-414)ctG>ctA	p.L138L	AARD_ENST00000523536.1_3'UTR	NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	138																	AGTATGAACTGGAAATTACAT	0.453000													13	57					0	0	0.000308642	0	0
F2RL2	2151	broad.mit.edu	37	5	75913780	75913780	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:75913780G>C	ENST00000296641.4	-	2	955	c.752C>G	c.(751-753)aCt>aGt	p.T251S	IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.T229S	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	251					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GGACTCGCAAGTGTTGTGAAC	0.413000													8	32					0	0	0.000157383	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68795740	68795740	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:68795740C>T	ENST00000508048.1	-	5	371	c.336G>A	c.(334-336)gtG>gtA	p.V112V	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000334830.7_Silent_p.V116V|TMPRSS11A_ENST00000396188.2_Silent_p.V113V			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	116	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CATCTACTTTCACACCATCTT	0.403000													5	43					0	0	8.12818e-05	0	0
OR4S1	256148	broad.mit.edu	37	11	48328285	48328285	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:48328285G>A	ENST00000319988.1	+	1	511	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGGCCCAATGAGATAGACAA	0.552000													17	26					0	0	0.000566183	0	0
HERC2	8924	broad.mit.edu	37	15	28422610	28422610	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr15:28422610G>A	ENST00000261609.7	-	60	9317	c.9209C>T	c.(9208-9210)tCg>tTg	p.S3070L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3070				S -> W (in Ref. 3; AAO27475).	DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCGCCCCACGAAAACACTTT	0.468000													20	26					0	0	0.000295444	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774082	140774082	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:140774082C>T	ENST00000398604.2	+	1	1702	c.1702C>T	c.(1702-1704)Ccc>Tcc	p.P568S	PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGCCCTCCCCACAGACGG	0.667000													14	41					0	0	0.000308642	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39382983	39382983	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:39382983C>T	ENST00000377721.3	+	1	84	c.77C>T	c.(76-78)cCc>cTc	p.P26L	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.P26L	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	26	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding	p.P26H(1)		large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGGAAGCCCACCACTGTG	0.642000													4	31					0	0	0.00024832	0	0
PRR16	51334	broad.mit.edu	37	5	120021677	120021677	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:120021677C>T	ENST00000379551.2	+	3	476	c.119C>T	c.(118-120)tCt>tTt	p.S40F	PRR16_ENST00000505123.1_5'UTR|PRR16_ENST00000446965.1_5'UTR|PRR16_ENST00000407149.2_Missense_Mutation_p.S63F	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	63										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACCCTGACCTCTGACCTACAG	0.438000													17	34					0	0	0.000566183	0	0
DSE	29940	broad.mit.edu	37	6	116752308	116752308	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:116752308C>T	ENST00000331677.3	+	5	1306	c.862C>T	c.(862-864)Ccg>Tcg	p.P288S	DSE_ENST00000359564.2_Missense_Mutation_p.P288S|DSE_ENST00000537543.1_Missense_Mutation_p.P307S|DSE_ENST00000452085.3_Missense_Mutation_p.P288S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	288					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CTTTGGCCATCCGTGGCTTAA	0.413000													13	26					0	0	0.00010058	0	0
BRD4	23476	broad.mit.edu	37	19	15376315	15376315	+	Silent	SNP	G	G	A	rs141035305	by1000genomes	TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:15376315G>A	ENST00000263377.2	-	5	920	c.699C>T	c.(697-699)atC>atT	p.I233I	BRD4_ENST00000371835.4_Silent_p.I233I|BRD4_ENST00000360016.5_Silent_p.I233I	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	233					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGTCTGGACGATGAGGTCCG	0.692000			T	C15orf55	lethal midline carcinoma of young people								15	25					0	0	0.000308642	0	0
NEBL	10529	broad.mit.edu	37	10	21141545	21141545	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:21141545C>T	ENST00000377122.4	-	10	1333	c.937G>A	c.(937-939)Gga>Aga	p.G313R	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	313					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGATACATTCCTTTGTTTTCC	0.398000													10	4					0	0	0.000219431	0	0
PLCZ1	89869	broad.mit.edu	37	12	18847964	18847964	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:18847964C>T	ENST00000447925.2	-	12	1604	c.1335G>A	c.(1333-1335)ggG>ggA	p.G445G	PLCZ1_ENST00000538330.1_Silent_p.G229G|PLCZ1_ENST00000435379.1_Silent_p.G252G|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000541695.1_Silent_p.G310G|PLCZ1_ENST00000539875.1_Silent_p.G254G|PLCZ1_ENST00000266505.7_Silent_p.G447G	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	447	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCAAAAATTTCCCATTTTGCA	0.348000													14	24					0	0	0.000219431	0	0
OR10G4	390264	broad.mit.edu	37	11	123887086	123887086	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:123887086G>A	ENST00000320891.4	+	1	805	c.805G>A	c.(805-807)Gga>Aga	p.G269R		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGCCATGGATGGAGTTGTGGC	0.493000													20	26					0	0	0.000175454	0	0
FBN3	84467	broad.mit.edu	37	19	8130862	8130862	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:8130862C>T	ENST00000600128.1	-	64	8785	c.8371G>A	c.(8371-8373)Ggg>Agg	p.G2791R	FBN3_ENST00000601739.1_Missense_Mutation_p.G2791R|FBN3_ENST00000270509.2_Missense_Mutation_p.G2791R			Q75N90	FBN3_HUMAN	fibrillin 3	2791						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTGGCTGCCCCTCTGGCTGG	0.687000													9	17					0	0	3.86212e-05	0	0
ATAD5	79915	broad.mit.edu	37	17	29162841	29162841	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:29162841C>G	ENST00000321990.4	+	2	2120	c.1742C>G	c.(1741-1743)tCt>tGt	p.S581C	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	581					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAAGCTGAATCTGAAGCCAGC	0.378000													12	55					0	0	6.40141e-05	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025033	176025033	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:176025033G>A	ENST00000303991.4	-	2	1980	c.1803C>T	c.(1801-1803)atC>atT	p.I601I		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	601						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCCTCTGGGATAGCTTCTG	0.567000													16	16					0	0	9.7654e-05	0	0
NCAPG2	54892	broad.mit.edu	37	7	158448069	158448069	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:158448069C>A	ENST00000409339.3	-	20	2580	c.2467G>T	c.(2467-2469)Ggt>Tgt	p.G823C	NCAPG2_ENST00000275830.10_Missense_Mutation_p.G615C|NCAPG2_ENST00000409423.1_Missense_Mutation_p.G823C|NCAPG2_ENST00000449727.2_Missense_Mutation_p.G823C|NCAPG2_ENST00000541468.1_Missense_Mutation_p.G324C|NCAPG2_ENST00000356309.3_Missense_Mutation_p.G823C			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	823					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CAGTGGAGACCAAAGGCTCGC	0.522000													8	112					0.000274275	0.00570234	0.000274275	1	0
MYO1G	64005	broad.mit.edu	37	7	45005409	45005409	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:45005409G>A	ENST00000258787.7	-	17	2344	c.2208C>T	c.(2206-2208)atC>atT	p.I736I		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	736	IQ.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGATGGTGTAGATAGCCCTCA	0.652000													10	18					0	0	6.40141e-05	0	0
CYB561D1	284613	broad.mit.edu	37	1	110038845	110038845	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:110038845C>T	ENST00000420578.2	+	3	694	c.654C>T	c.(652-654)tcC>tcT	p.S218S	CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000528785.1_Silent_p.S218S|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000369868.3_Silent_p.S240S|CYB561D1_ENST00000393709.3_Silent_p.S161S|CYB561D1_ENST00000527072.1_3'UTR			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	218	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		ACCAGATTTCCAGATCCTACT	0.527000													15	32					0	0	0.000308642	0	0
SPECC1L	23384	broad.mit.edu	37	22	24718497	24718497	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:24718497A>G	ENST00000314328.9	+	5	1834	c.1549A>G	c.(1549-1551)Agc>Ggc	p.S517G	SPECC1L_ENST00000437398.1_Missense_Mutation_p.S517G|SPECC1L_ENST00000416735.1_Intron|KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.S517G|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S517G	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	517					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GCAGCATTTAAGCAATACTTT	0.443000													18	35					0	0	0.000175454	0	0
ZNF716	441234	broad.mit.edu	37	7	57510016	57510016	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:57510016C>T	ENST00000420713.1	+	1	134	c.22C>T	c.(22-24)Cct>Tct	p.P8S		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ACCGGGACCCCCTGGAAGCCG	0.562000													9	11					0	0	6.40141e-05	0	0
FBXO31	79791	broad.mit.edu	37	16	87367562	87367562	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:87367562C>T	ENST00000311635.7	-	8	1339	c.1327G>A	c.(1327-1329)Ggg>Agg	p.G443R	RP11-178L8.4_ENST00000568879.1_Silent_p.R106R	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	443					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AACGGCTGCCCCTGCCCACAC	0.677000													6	5					0	0	3.59834e-05	0	0
CILP2	148113	broad.mit.edu	37	19	19655192	19655192	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:19655192G>A	ENST00000586018.1	+	8	1958	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	CILP2_ENST00000291495.4_Missense_Mutation_p.R613Q			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	613						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GTGGACCCCCGAGACCTCACC	0.697000													15	31					0	0	0.000422831	0	0
PTPRT	11122	broad.mit.edu	37	20	41408906	41408906	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:41408906G>A	ENST00000373198.3	-	4	755	c.520C>T	c.(520-522)Cct>Tct	p.P174S	PTPRT_ENST00000356100.2_Missense_Mutation_p.P174S|PTPRT_ENST00000373187.1_Missense_Mutation_p.P174S|PTPRT_ENST00000373184.1_Missense_Mutation_p.P174S|PTPRT_ENST00000373190.1_Missense_Mutation_p.P174S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P174S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P174S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	174	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGTAGCCAGGATGACCCTTC	0.522000													13	30					0	0	0.000151284	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140536860	140536860	+	Silent	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:140536860G>A	ENST00000539533.1	+	1	1284	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G																								CAGACTTGGGGACACCCAGGC	0.517000													8	18					0	0	0.000274275	0	0
ZNF610	162963	broad.mit.edu	37	19	52869199	52869199	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:52869199C>T	ENST00000601151.1	+	5	891	c.439C>T	c.(439-441)Cca>Tca	p.P147S	ZNF610_ENST00000321287.8_Missense_Mutation_p.P190S|ZNF610_ENST00000403906.3_Missense_Mutation_p.P190S|ZNF610_ENST00000327920.8_Missense_Mutation_p.P190S	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CCCATTACTCCCACAAGAAGA	0.333000													11	65					0	0	3.86212e-05	0	0
OTOL1	131149	broad.mit.edu	37	3	161221394	161221394	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:161221394C>T	ENST00000327928.4	+	4	1098	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	366	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAAAGATTCTCTATAATGACC	0.473000													10	6					0	0	0.000442599	0	0
EDNRA	1909	broad.mit.edu	37	4	148463717	148463717	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:148463717G>A	ENST00000324300.5	+	8	1746	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Missense_Mutation_p.D302N|EDNRA_ENST00000358556.4_Missense_Mutation_p.D302N|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000511804.1_Missense_Mutation_p.D186N	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	411					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GAAGAACCACGATCAAAACAA	0.522000													10	16					0	0	0.000442599	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751701	73751701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:73751701C>T	ENST00000342056.2	+	3	930	c.532C>T	c.(532-534)Cga>Tga	p.R178*	KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.R178*|KCNQ5_ENST00000370398.1_Nonsense_Mutation_p.R178*|KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.R178*|KCNQ5_ENST00000414165.2_Nonsense_Mutation_p.R178*|KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.R178*|KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.R178*|KCNQ5_ENST00000370392.1_Nonsense_Mutation_p.R178*	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	178					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GTTCATCATTCGAATCTGGTC	0.423000													61	58					0	0	0.000147903	0	0
ZXDC	79364	broad.mit.edu	37	3	126180782	126180782	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:126180782G>A	ENST00000389709.3	-	6	1776	c.1723C>T	c.(1723-1725)Ccc>Tcc	p.P575S	ZXDC_ENST00000336332.5_Missense_Mutation_p.P575S	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	575					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		AGGCTTGGGGGAATATCACTG	0.602000													10	13					0	0	0.000151284	0	0
FRMD8	83786	broad.mit.edu	37	11	65161522	65161522	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:65161522C>T	ENST00000317568.5	+	5	529	c.366C>T	c.(364-366)ttC>ttT	p.F122F	FRMD8_ENST00000416776.2_Silent_p.F88F|FRMD8_ENST00000355991.5_Silent_p.F66F	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	122	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						ATGAGCCTTTCCTGCAGTTCC	0.672000													5	9					0	0	1.23904e-05	0	0
UNC79	57578	broad.mit.edu	37	14	94120313	94120313	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:94120313C>T	ENST00000553484.1	+	39	6561	c.6407C>T	c.(6406-6408)tCg>tTg	p.S2136L	UNC79_ENST00000555664.1_Missense_Mutation_p.S2075L|UNC79_ENST00000393151.2_Missense_Mutation_p.S2114L|UNC79_ENST00000256339.4_Missense_Mutation_p.S1937L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2114						integral to membrane		p.S1937L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACCTTAGCCTCGTCTCTGATG	0.507000													7	27					0	0	0.000442599	0	0
LIFR	3977	broad.mit.edu	37	5	38530715	38530715	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:38530715G>A	ENST00000263409.4	-	2	197	c.35C>T	c.(34-36)tCc>tTc	p.S12F	LIFR_ENST00000453190.2_Missense_Mutation_p.S12F|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	12					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CACCATCCAGGATGGTCGTTT	0.388000			T	PLAG1	salivary adenoma								29	37					0	0	0.000491102	0	0
ZNF236	7776	broad.mit.edu	37	18	74639999	74639999	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:74639999G>A	ENST00000253159.8	+	25	4723	c.4525G>A	c.(4525-4527)Gcc>Acc	p.A1509T	ZNF236_ENST00000320610.9_Missense_Mutation_p.A1511T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1509					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCTGGCACAGGCCGCTGGGCC	0.542000													14	26					0	0	0.000308642	0	0
TTLL9	164395	broad.mit.edu	37	20	30496448	30496448	+	Silent	SNP	C	C	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:30496448C>T	ENST00000375938.4	+	5	514	c.261C>T	c.(259-261)ttC>ttT	p.F87F	TTLL9_ENST00000535842.1_Silent_p.F87F|TTLL9_ENST00000375921.2_Silent_p.F37F|TTLL9_ENST00000375934.4_Silent_p.F69F|TTLL9_ENST00000310998.4_Silent_p.F37F|TTLL9_ENST00000375922.4_Silent_p.F37F			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	87	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGGAGAACTTCGACCACACCT	0.592000													5	9					0	0	3.59834e-05	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149377834	149377839	+	RNA	DEL	TCTTTG	TCTTTG	-			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:149377834_149377839delTCTTTG	ENST00000415338.1	-	0	1061																											GTATCTCTTCTCTTTGTCTTTTTCTG	0.461													3	6	---	---	---	---					
EFHC1	114327	broad.mit.edu	37	6	52319006	52319006	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:52319006delC	ENST00000371068.5	+	5	940	c.837delC	c.(835-837)cafs	p.H279fs	EFHC1_ENST00000538167.1_Frame_Shift_Del_p.H260fs|EFHC1_ENST00000433625.2_Frame_Shift_Del_p.H188fs	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	279	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GAGAGGTCCACGAACGGAATG	0.433													27	30	---	---	---	---					
SIM1	6492	broad.mit.edu	37	6	100838735	100838735	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:100838735delT	ENST00000369208.3	-	12	2585	c.1803delA	c.(1801-1803)aafs	p.K601fs	SIM1_ENST00000262901.4_Frame_Shift_Del_p.K601fs			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	601	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ACAGGGAGTGTTTTTTCCCAG	0.483													7	27	---	---	---	---					
PPP1R35	221908	broad.mit.edu	37	7	100033871	100033871	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:100033871delC	ENST00000292330.2	-	1	317	c.127delG	c.(127-129)acfs	p.D43fs	RP11-758P17.2_ENST00000492523.1_RNA|RP11-758P17.3_ENST00000475250.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	CG047_HUMAN	protein phosphatase 1, regulatory subunit 35	43	Pro-rich.																AGGCTCAAGTCCAGGCCGGGC	0.801													2	4	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086381	20086382	+	RNA	INS	-	-	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:20086381_20086382insT	ENST00000548261.1	+	0	135																											GTCTTACAAGGTAAAAAAAATG	0.312													3	6	---	---	---	---					
COL20A1	57642	broad.mit.edu	37	20	61943784	61943784	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:61943784delG	ENST00000422202.1	+	14	1905	c.1837delG	c.(1837-1839)ggfs	p.G613fs	COL20A1_ENST00000435874.1_Frame_Shift_Del_p.G613fs|COL20A1_ENST00000326996.6_Frame_Shift_Del_p.G606fs|COL20A1_ENST00000358894.6_Frame_Shift_Del_p.G606fs			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	606	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGAGGCTCCTGGGAACGCCAC	0.672													2	4	---	---	---	---					
RBFOX2	23543	broad.mit.edu	37	22	36152169	36152169	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:36152169delA	ENST00000449924.2	-	10	1107	c.919delT	c.(919-921)acfs	p.Y307fs	RBFOX2_ENST00000262829.7_Frame_Shift_Del_p.Y285fs|RBFOX2_ENST00000416721.2_Frame_Shift_Del_p.Y303fs|RBFOX2_ENST00000414461.2_Intron|RBFOX2_ENST00000438146.2_Frame_Shift_Del_p.Y378fs|RBFOX2_ENST00000359369.4_Frame_Shift_Del_p.Y283fs|RBFOX2_ENST00000405409.2_Intron|RBFOX2_ENST00000397303.2_Frame_Shift_Del_p.Y284fs			O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	317	Ala-rich.				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						TCAGCACCGTAAAATCCGTCC	0.438													2	4	---	---	---	---